Full data view for gene HGF

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

68 entries on 1 page. Showing entries 1 - 68.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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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     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 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
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