Full data view for gene NHLRC1

Information The variants shown are described using the NM_198586.2 transcript reference sequence.

82 entries on 1 page. Showing entries 1 - 82.
Legend  

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.32C>A r.(?) p.(Ala11Glu) Unknown - likely benign g.18122806G>T g.18122575G>T NHLRC1(NM_198586.2):c.32C>A (p.A11E) - NHLRC1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.146T>C r.(?) p.(Val49Ala) Unknown - VUS g.18122692A>G g.18122461A>G NHLRC1(NM_198586.2):c.146T>C (p.V49A) - NHLRC1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.205C>G r.(?) p.(Pro69Ala) Unknown - pathogenic g.18122633G>C g.18122402G>C NHLRC1(NM_198586.2):c.205C>G (p.P69A) - NHLRC1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.234C>T r.(?) p.(Cys78=) Unknown - likely benign g.18122604G>A g.18122373G>A NHLRC1(NM_198586.2):c.234C>T (p.C78=) - NHLRC1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.303G>T r.(?) p.(Pro101=) Unknown - likely benign g.18122535C>A g.18122304C>A NHLRC1(NM_198586.2):c.303G>T (p.P101=) - NHLRC1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.312T>C r.(?) p.(His104=) Unknown - benign g.18122526A>G g.18122295A>G NHLRC1(NM_198586.2):c.312T>C (p.H104=) - NHLRC1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Both (homozygous) - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ, arraySNP, PCR - - HD - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Both (homozygous) - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ, arraySNP, PCR - - HD - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - ?, JBS - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ, arraySNP, PCR - - HD - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - ? - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Both (homozygous) - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Both (homozygous) - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD, CF - PubMed: Bell 2011 - M - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - ABL - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - epilepsy - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Both (homozygous) - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Both (homozygous) - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Both (homozygous) - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Both (homozygous) - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 JPT/HANā€HapMap sample F - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Both (homozygous) - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Unknown - - - 0 - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - benign g.18122506G>A g.18122275G>A NHLRC1(NM_198586.2):c.332C>T (p.P111L) - NHLRC1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - benign g.18122506G>A g.18122275G>A NHLRC1(NM_198586.2):c.332C>T (p.P111L) - NHLRC1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.361G>A r.(?) p.(Gly121Ser) Unknown - pathogenic g.18122477C>T g.18122246C>T NHLRC1(NM_198586.2):c.361G>A (p.G121S) - NHLRC1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.386C>A r.(?) p.(Pro129His) Unknown - pathogenic g.18122452G>T g.18122221G>T NHLRC1(NM_198586.2):c.386C>A (p.P129H) - NHLRC1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.386C>A r.(?) p.(Pro129His) Unknown - pathogenic g.18122452G>T g.18122221G>T NHLRC1(NM_198586.2):c.386C>A (p.P129H) - NHLRC1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.391G>A r.(?) p.(Gly131Arg) Unknown - pathogenic g.18122447C>T g.18122216C>T NHLRC1(NM_198586.2):c.391G>A (p.G131R) - NHLRC1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.436G>A r.(?) p.(Asp146Asn) Unknown - pathogenic g.18122402C>T g.18122171C>T NHLRC1(NM_198586.2):c.436G>A (p.D146N) - NHLRC1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.436G>A r.(?) p.(Asp146Asn) Parent #1 - - g.18122402C>T g.18122171C>T - - NHLRC1_000004 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs769301934 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+/. - c.664G>T r.(?) p.(Glu222*) Parent #1 - - g.18122174C>A g.18121943C>A - - NHLRC1_000016 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs794726964 Germline - 1/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.887T>A r.(?) p.(Val296Glu) Unknown - VUS g.18121951A>T g.18121720A>T NHLRC1(NM_198586.2):c.887T>A (p.V296E) - NHLRC1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.926C>T r.(?) p.(Thr309Ile) Unknown - pathogenic g.18121912G>A g.18121681G>A NHLRC1(NM_198586.2):c.926C>T (p.T309I) - NHLRC1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.992del r.(?) p.(Gly331Glufs*3) Both (homozygous) ACMG pathogenic (recessive) g.18121848del g.18121617del - - NHLRC1_000017 - - - - Germline yes - - - - DNA SEQ-NG WES - epilepsy, myoclonic, of Lafora LFR3 - - M no Italy - 14y - - - 1 Pietro Palumbo
-?/. - c.*85T>A r.(=) p.(=) Unknown - likely benign g.18121565A>T g.18121334A>T NHLRC1(NM_198586.2):c.*85T>A - NHLRC1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*626C>T r.(=) p.(=) Parent #1 - - g.18121024G>A g.18120793G>A - - NHLRC1_000015 94 heterozygous; Clinindb (India) Faruq 2020, submtted - rs10949480 Germline - 94/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 94 Mohammed Faruq
-?/. - c.*626C>T r.(=) p.(=) Both (homozygous) - likely benign g.18121024G>A g.18120793G>A - - NHLRC1_000015 2 homozygous; Clinindb (India) Faruq 2020, submtted - rs10949480 Germline - 2/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
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