Unique variants in gene NHLRC1

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

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.32C>A r.(?) p.(Ala11Glu) - 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 - - - - - VKGL-NL_Utrecht
?/. 1 - c.146T>C r.(?) p.(Val49Ala) - 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 - - - - - VKGL-NL_Utrecht
+/. 1 - c.205C>G r.(?) p.(Pro69Ala) - 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 - - - - - VKGL-NL_Utrecht
-?/. 1 - c.234C>T r.(?) p.(Cys78=) - 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 - - - - - VKGL-NL_Utrecht
-?/. 1 - c.303G>T r.(?) p.(Pro101=) - 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 - - - - - VKGL-NL_Utrecht
-/. 1 - c.312T>C r.(?) p.(His104=) - 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 - - - - - VKGL-NL_Utrecht
-/., ?/. 63 - c.332C>T r.(?) p.(Pro111Leu) - 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, Unknown, Germline - - - - - VKGL-NL_Utrecht, VKGL-NL_Groningen, Johan den Dunnen, Gerard C.P. Schaafsma
+/. 1 - c.361G>A r.(?) p.(Gly121Ser) - 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 - - - - - VKGL-NL_Groningen
+/. 2 - c.386C>A r.(?) p.(Pro129His) - 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 - - - - - VKGL-NL_Utrecht, VKGL-NL_Groningen
+/. 1 - c.391G>A r.(?) p.(Gly131Arg) - 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 - - - - - VKGL-NL_Utrecht
+/. 2 - c.436G>A r.(?) p.(Asp146Asn) - pathogenic g.18122402C>T g.18122171C>T NHLRC1(NM_198586.2):c.436G>A (p.D146N) - NHLRC1_000004 VKGL data sharing initiative Nederland, 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs769301934 CLASSIFICATION record, Germline - 1/2795 individuals - - - VKGL-NL_Utrecht, Mohammed Faruq
+/. 1 - c.664G>T r.(?) p.(Glu222*) - - g.18122174C>A g.18121943C>A - - NHLRC1_000016 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs794726964 Germline - 1/2794 individuals - - - Mohammed Faruq
?/. 1 - c.887T>A r.(?) p.(Val296Glu) - 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 - - - - - VKGL-NL_Utrecht
+/. 1 - c.926C>T r.(?) p.(Thr309Ile) - 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 - - - - - VKGL-NL_Utrecht
+/. 1 1 c.992del r.(?) p.(Gly331Glufs*3) ACMG pathogenic (recessive) g.18121848del g.18121617del - - NHLRC1_000017 - - - - Germline yes - - - - Pietro Palumbo
-?/. 1 - c.*85T>A r.(=) p.(=) - likely benign g.18121565A>T g.18121334A>T NHLRC1(NM_198586.2):c.*85T>A - NHLRC1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 2 - c.*626C>T r.(=) p.(=) - likely benign g.18121024G>A g.18120793G>A - - NHLRC1_000015 94 heterozygous; Clinindb (India), 2 homozygous; Clinindb (India) Faruq 2020, submtted - rs10949480 Germline - 94/2795 individuals, 2/2795 individuals - - - Mohammed Faruq
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