Full data view for gene HGF

Information The variants shown are described using the NM_000601.4 transcript reference sequence.

115 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.5_44del r.(?) p.(Trp2SerfsTer36) Unknown - VUS g.81399249_81399288del g.81769933_81769972del HGF(NM_000601.6):c.5_44del (p.W2Sfs*36) - HGF_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6G>T r.(?) p.(Trp2Cys) Unknown - VUS g.81399282C>A g.81769966C>A HGF(NM_000601.5):c.6G>T (p.W2C) - HGF_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.137C>T r.(?) p.(Ala46Val) Unknown - likely benign g.81392140G>A g.81762824G>A HGF(NM_000601.4):c.137C>T (p.(Ala46Val)), HGF(NM_000601.5):c.137C>T (p.A46V), HGF(NM_000601.6):c.137C>T (p.A46V) - HGF_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.137C>T r.(?) p.(Ala46Val) Unknown - VUS g.81392140G>A g.81762824G>A HGF(NM_000601.4):c.137C>T (p.(Ala46Val)), HGF(NM_000601.5):c.137C>T (p.A46V), HGF(NM_000601.6):c.137C>T (p.A46V) - HGF_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.137C>T r.(?) p.(Ala46Val) Unknown - likely benign g.81392140G>A - HGF(NM_000601.4):c.137C>T (p.(Ala46Val)), HGF(NM_000601.5):c.137C>T (p.A46V), HGF(NM_000601.6):c.137C>T (p.A46V) - HGF_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.333A>G r.(?) p.(Glu111=) Unknown - benign g.81388042T>C g.81758726T>C HGF(NM_000601.6):c.333A>G (p.E111=) - HGF_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.368-11T>C r.(=) p.(=) Unknown - likely benign g.81386630A>G g.81757314A>G HGF(NM_000601.6):c.368-11T>C - HGF_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) ACMG likely pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988del - HGF_000027 - PubMed: Mei 2021 - - Germline yes - - - - DNA SEQ, PCR, SEQ-NG blood - deafness PK-DB-OKA-01PatIV24 PubMed: Mei 2021 6-generation family, 22 affected (8F, 14M), unaffected heterozygous carrier parents; family seggregates different pathogenic variant in 5 males F yes Pakistan Okara - - - - 17 LOVD
+?/. - c.482+1986_482+1988del r.? p.? Parent #1 ACMG likely pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986-1988del - HGF_000027 - PubMed: Mei 2021 - - Germline - - - - - DNA SEQ, PCR, SEQ-NG blood - deafness PK-DB-OKA-01PatIII10/IV5/6 PubMed: Mei 2021 5 males seggregating POU3F4 variant M yes Pakistan Okara - - - - 5 LOVD
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB PKDF002 PubMed: Schultz 2009 4-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives F;M - Pakistan - - - - - 5 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB PKDF084 PubMed: Schultz 2009 6-generation family, 6 affected (3F, 3M), unaffected heterozygous carrier parents/relatives F;M - Pakistan - - - - - 6 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB PKDF121 PubMed: Schultz 2009 9-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 5 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB PKDF157 PubMed: Schultz 2009 6-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 5 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB PKDF204 PubMed: Schultz 2009 7-generation family, 20 affected (6F, 14M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 20 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB PKDF239 PubMed: Schultz 2009 5-generation family, 6 affected (3F, 3M), unaffected heterozygous carrier parents/relatives - yes Pakistan - - - - - 6 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB PKDF351 PubMed: Schultz 2009 7-generation family, 4 affected (4F), unaffected heterozygous carrier parents/relatives - yes Pakistan - - - - - 4 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB PKDF352 PubMed: Schultz 2009 6-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 4 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB PKDF402 PubMed: Schultz 2009 4-generation family, 5 affected (F, 4M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 5 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB PKDF711 PubMed: Schultz 2009 7-generation family, 6 affected (2F, 4M), unaffected heterozygous carrier parents/relatives F;M - Pakistan - - - - - 6 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB PKDF841 PubMed: Schultz 2009 5-generation family, 6 affected (2F, 4M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 6 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB PKDF847 PubMed: Schultz 2009 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 3 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB PKDF879 PubMed: Schultz 2009 5-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 4 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB PKDF1113 PubMed: Schultz 2009 4-generation family, 13 affected (4F, 9M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 13 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB PKSR36 PubMed: Schultz 2009 4-generation family, 2 affected brothers (2M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - 2 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB PKSR53 PubMed: Schultz 2009 5-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 3 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB PKSR2 PubMed: Schultz 2009 4-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 5 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB IDM13 PubMed: Schultz 2009 5-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives F;M yes India - - - - - 4 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB Kla2 PubMed: Schultz 2009 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes India - - - - - 3 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB DEM4011 PubMed: Schultz 2009 family - - Pakistan - - - - - 1 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB DEM4017A PubMed: Schultz 2009 6-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 3 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB DEM4018 PubMed: Schultz 2009 6-generation family, 7 affected (2F, 5M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 7 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB DEM4048 PubMed: Schultz 2009 6-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 3 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB DEM4050 PubMed: Schultz 2009 2-generation family, 4 affected sibs (F, 3M), unaffected heterozygous carrier parents/relatives F;M - Pakistan - - - - - 4 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB DEM4058 PubMed: Schultz 2009 5-generation family, 6 affected (3F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 6 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB DEM4071 PubMed: Schultz 2009 7-generation family, 13 affected (8F, 5M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 13 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB DEM4142 PubMed: Schultz 2009 4-generation family, 6 affected (3F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 6 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB DEM4174 PubMed: Schultz 2009 5-generation family, 6 affected (F, 5M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 6 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB DEM4199 PubMed: Schultz 2009 5-generation family, 6 affected (2F, 4M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 6 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB DEM4201 PubMed: Schultz 2009 4-generation family, 5 affected (F, 4M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 5 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB DEM4212 PubMed: Schultz 2009 5-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 4 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB DEM4320 PubMed: Schultz 2009 4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - 2 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB DEM4332 PubMed: Schultz 2009 4-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 2 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB DEM4333A PubMed: Schultz 2009 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - 1 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB DEM4333B PubMed: Schultz 2009 4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - 2 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB DEM4434 PubMed: Schultz 2009 6-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 4 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB DEM4443 PubMed: Schultz 2009 4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 4 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB DEM4467 PubMed: Schultz 2009 4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 4 Johan den Dunnen
+/. 4i c.482+1986_482+1988del r.? p.? Parent #1 - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 - PubMed: Schultz 2009 - - Germline - 2/858 control chromosomes Pakistan - - - DNA SEQ - - Healthy/Control controls PubMed: Schultz 2009 analysis 429 controls - - Pakistan - - - - - 2 Johan den Dunnen
+/. - c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_88delTGA - HGF_000027 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4494 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_88delTGA - HGF_000027 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4521 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_88delTGA - HGF_000027 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4522 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_88delTGA - HGF_000027 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4562 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_88delTGA - HGF_000027 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4564 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_88delTGA - HGF_000027 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4586 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_88delTGA - HGF_000027 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4622 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_88delTGA - HGF_000027 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4628 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_88delTGA - HGF_000027 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4642 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_88delTGA - HGF_000027 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4665 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_88delTGA - HGF_000027 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4701 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_88delTGA - HGF_000027 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4865 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_88delTGA - HGF_000027 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4861 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_88delTGA - HGF_000027 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4880 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_88delTGA - HGF_000027 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4925 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_88delTGA - HGF_000027 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4943 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_88delTGA - HGF_000027 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF970a PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_88delTGA - HGF_000027 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1017 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_88delTGA - HGF_000027 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1331 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_88delTGA - HGF_000027 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1579 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_88delTGA - HGF_000027 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1604 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_88delTGA - HGF_000027 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1637 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_88delTGA - HGF_000027 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1668 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_88delTGA - HGF_000027 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1754 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_88delTGA - HGF_000027 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1787 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.482+1986_482+1988del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_88delTGA - HGF_000027 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1791 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.482+1986_482+1988del r.spl p.? Both (homozygous) - pathogenic (recessive) g.81384522_81384524del g.81755206_81755208del 482+1986_1988delTGA - HGF_000027 - PubMed: Schultz 2009, PubMed: Naz 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL HLAI-18 PubMed: Schultz 2009, PubMed: Naz 2017 family, 2 affected - - Pakistan Punjab - - - - 2 Johan den Dunnen
+/. 4i c.482+1991_482+2000del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384519_81384528del g.81755203_81755212del 482+1991_2000delGATGATGAAA - HGF_000031 not in 1688 control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB DEM4472 PubMed: Schultz 2009 6-generation family, 5 affected (F, 4M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 5 Johan den Dunnen
+/. 4i c.482+1991_482+2000del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384519_81384528del g.81755203_81755212del 482+1991_2000delGATGATGAAA - HGF_000031 not in 1688 control chromosomes; variant suggested to dysregulate HGF expression PubMed: Schultz 2009 - - Germline yes - - - - DNA SEQ - - DFNB PKDF601 PubMed: Schultz 2009 5-generation family, 5 affected (1F, 4M), unaffected heterozygous carrier parents/relatives - yes Pakistan - - - - - 5 Johan den Dunnen
+/. - c.482+1991_482+2000del r.? p.? Both (homozygous) - pathogenic (recessive) g.81384519_81384528del g.81755203_81755212del 482 +1991_2000delGATGATGAAA - HGF_000031 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1775 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/+ 5 c.495G>A r.(=) p.(=) Parent #1 - pathogenic g.81381566C>T g.81752250C>T - - HGF_000025 - MORL Deafness Variation Database, PubMed: Schultz 2009, PubMed: Shearer 1993 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Schultz 2009, PubMed: Shearer 1993 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 5 c.495G>A r.483_497del p.Phe162_Ser166del Both (homozygous) - pathogenic (recessive) g.81381566C>T g.81752250C>T S165S, NM_001010932:c.483-3G>A - HGF_000025 not in 1040 control chromosomes; causes shift in balance altrnatively spliced transcripts PubMed: Schultz 2009 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DFNB PKDF210 PubMed: Schultz 2009 5-generation family, 3 affected (1F, 4M), unaffected heterozygous carrier parents/relatives2 - yes Pakistan - - - - - 3 Johan den Dunnen
?/. - c.497G>A r.(?) p.(Ser166Asn) Unknown - VUS g.81381564C>T g.81752248C>T HGF(NM_000601.5):c.497G>A (p.S166N) - HGF_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 6 c.659G>A r.(?) p.(Arg220Gln) Parent #1 - VUS g.81374403C>T g.81745087C>T - - HGF_000024 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.682T>G r.(?) p.(Ser228Ala) Unknown - likely benign g.81374380A>C g.81745064A>C HGF(NM_000601.6):c.682T>G (p.S228A) - HGF_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 6 c.682T>G r.(?) p.(Ser228Ala) Parent #1 - VUS g.81374380A>C g.81745064A>C - - HGF_000006 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.700C>T r.(?) p.(Arg234Cys) Unknown - VUS g.81374362G>A g.81745046G>A HGF(NM_000601.6):c.700C>T (p.R234C) - HGF_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.711T>C r.(?) p.(His237=) Unknown - benign g.81374351A>G g.81745035A>G HGF(NM_000601.6):c.711T>C (p.H237=) - HGF_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.829C>T r.(?) p.(His277Tyr) Unknown - VUS g.81372705G>A - HGF(NM_000601.4):c.829C>T (p.(His277Tyr)) - HGF_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.864C>A r.(?) p.(Cys288*) Parent #1 - pathogenic g.81372670G>T g.81743354G>T - - HGF_000023 - MORL Deafness Variation Database, PubMed: Finegold 2008 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Finegold 2008 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/? 7i c.865+413dup r.(=) p.(=) Parent #1 - VUS g.81372256dup g.81742940dup - - HGF_000022 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.885C>T r.(?) p.(Asp295=) Unknown - likely benign g.81359076G>A g.81729760G>A HGF(NM_000601.5):c.885C>T (p.D295=), HGF(NM_000601.6):c.885C>T (p.D295=) - HGF_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.885C>T r.(?) p.(Asp295=) Unknown - likely benign g.81359076G>A - HGF(NM_000601.5):c.885C>T (p.D295=), HGF(NM_000601.6):c.885C>T (p.D295=) - HGF_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.910G>A r.(?) p.(Glu304Lys) Unknown - benign g.81359051C>T g.81729735C>T HGF(NM_000601.6):c.910G>A (p.E304K) - HGF_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.910G>A r.(?) p.(Glu304Lys) Parent #1 - likely benign g.81359051C>T g.81729735C>T - - HGF_000005 59 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs5745687 Germline - 59/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 59 Mohammed Faruq
?/? 8 c.983G>T r.(?) p.(Arg328Leu) Parent #1 - VUS g.81358978C>A g.81729662C>A - - HGF_000021 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.1008G>A r.(?) p.(Glu336=) Unknown - benign g.81358953C>T g.81729637C>T HGF(NM_000601.5):c.1008G>A (p.E336=), HGF(NM_000601.6):c.1008G>A (p.E336=) - HGF_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1008G>A r.(?) p.(Glu336=) Unknown - likely benign g.81358953C>T g.81729637C>T HGF(NM_000601.5):c.1008G>A (p.E336=), HGF(NM_000601.6):c.1008G>A (p.E336=) - HGF_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 8 c.1008G>A r.(=) p.(=) Parent #1 - benign g.81358953C>T g.81729637C>T - - HGF_000004 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.1041-116A>T r.(?) p.(=) Both (homozygous) - benign g.81355449T>A g.81726133T>A - - HGF_000029 shared haplotype PubMed: Schultz 2009 - rs2286194 Germline - - - - - DNA SEQ - - DFNB PKSR36 PubMed: Schultz 2009 4-generation family, 2 affected brothers (2M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - 2 Johan den Dunnen
-?/-? 8i c.1041-12T>C r.(=) p.(=) Parent #1 - likely benign g.81355345A>G g.81726029A>G - - HGF_000020 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.1272-4A>G r.spl? p.? Unknown - benign g.81346685T>C g.81717369T>C HGF(NM_000601.6):c.1272-4A>G - HGF_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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