3155[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 527

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 296839	NM_001008216.2(GALE):c.-77+311C>T	GALE, HMGCL +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GLikely benign
Select item 296841	NM_000191.3(HMGCL):c.*486G>A	GALE, HMGCL	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 296842	NM_000191.3(HMGCL):c.*414G>A	HMGCL	Single nucleotide variant (3 prime UTR variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 877012	NM_000191.3(HMGCL):c.*388G>A	HMGCL	Single nucleotide variant (3 prime UTR variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 877013	NM_000191.3(HMGCL):c.*366G>A	HMGCL	Single nucleotide variant (3 prime UTR variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 877014	NM_000191.3(HMGCL):c.*338G>C	HMGCL	Single nucleotide variant (3 prime UTR variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 296843	NM_000191.3(HMGCL):c.*290T>C	HMGCL	Single nucleotide variant (3 prime UTR variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 296844	NM_000191.3(HMGCL):c.*289G>T	HMGCL	Single nucleotide variant (3 prime UTR variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 296845	NM_000191.3(HMGCL):c.*194C>G	HMGCL	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 296846	NM_000191.3(HMGCL):c.*104G>A	HMGCL	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 1145239	NM_000191.3(HMGCL):c.977G>A (p.Ter326=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 558287	NM_000191.3(HMGCL):c.977G>C (p.Ter326Ser)	HMGCL	Single nucleotide variant (stop lost)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 555633	NM_000191.3(HMGCL):c.976T>C (p.Ter326Arg)	HMGCL	Single nucleotide variant (stop lost)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1575691	NM_000191.3(HMGCL):c.969T>C (p.Cys323=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2868137	NM_000191.3(HMGCL):c.966C>G (p.Thr322=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2013718	NM_000191.3(HMGCL):c.962C>A (p.Ala321Asp)	HMGCL (A250D +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1913790	NM_000191.3(HMGCL):c.960G>A (p.Gln320=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 552440	NM_000191.3(HMGCL):c.958C>T (p.Gln320Ter)	HMGCL (Q320* +1 more)	Single nucleotide variant (nonsense)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 991792	NM_000191.3(HMGCL):c.950A>G (p.Lys317Arg)	HMGCL (K246R +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase +2 more	GUncertain significance
Select item 568971	NM_000191.3(HMGCL):c.945C>G (p.Ser315Arg)	HMGCL (S315R +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 2103532	NM_000191.3(HMGCL):c.942T>A (p.Thr314=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 874228	NM_000191.3(HMGCL):c.933C>G (p.Asn311Lys)	HMGCL (N240K +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 529457	NM_000191.3(HMGCL):c.933C>T (p.Asn311=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2334020	NM_000191.3(HMGCL):c.931A>G (p.Asn311Asp)	HMGCL (N311D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1160154	NM_000191.3(HMGCL):c.921T>C (p.Cys307=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2075643	NM_000191.3(HMGCL):c.920G>A (p.Cys307Tyr)	HMGCL (C307Y +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1139473	NM_000191.3(HMGCL):c.918C>T (p.Ile306=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2054866	NM_000191.3(HMGCL):c.915T>C (p.Phe305=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 31084	NM_000191.3(HMGCL):c.914_915del (p.Phe305fs)	HMGCL (F305fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2023993	NM_000191.3(HMGCL):c.909A>G (p.Gly303=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 1375793	NM_000191.3(HMGCL):c.899T>C (p.Leu300Pro)	HMGCL (L300P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1125395	NM_000191.3(HMGCL):c.897T>A (p.Leu299=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2884379	NM_000191.3(HMGCL):c.894G>A (p.Lys298=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2170646	NM_000191.3(HMGCL):c.888C>T (p.Leu296=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 1132880	NM_000191.3(HMGCL):c.882G>A (p.Val294=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2132723	NM_000191.3(HMGCL):c.878G>C (p.Gly293Ala)	HMGCL (G293A +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1102043	NM_000191.3(HMGCL):c.877-7C>T	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2836623	NM_000191.3(HMGCL):c.877-11G>T	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 3018064	NM_000191.3(HMGCL):c.877-17dup	HMGCL	Duplication (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 1584044	NM_000191.3(HMGCL):c.877-16A>G	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2805241	NM_000191.3(HMGCL):c.877-17T>C	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 1177625	NM_000191.3(HMGCL):c.877-72T>C	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase +1 more	GBenign
Select item 1197454	NM_000191.3(HMGCL):c.877-319T>C	HMGCL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194526	NM_000191.3(HMGCL):c.876+274CAAAA[2]	HMGCL	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1223853	NM_000191.3(HMGCL):c.876+78G>T	HMGCL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2096036	NM_000191.3(HMGCL):c.874_876+31del	HMGCL	Deletion (splice donor variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic
Select item 1512591	NM_000191.3(HMGCL):c.876+20G>A	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2905393	NM_000191.3(HMGCL):c.876+19del	HMGCL	Deletion (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2817167	NM_000191.3(HMGCL):c.876+18del	HMGCL	Deletion (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GBenign
Select item 1540139	NM_000191.3(HMGCL):c.876+18C>T	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GBenign
Select item 3022492	NM_000191.3(HMGCL):c.876+17C>G	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2140471	NM_000191.3(HMGCL):c.876+14C>A	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 1951732	NM_000191.3(HMGCL):c.876+9A>G	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 1103583	NM_000191.3(HMGCL):c.876+5_876+8dup	HMGCL	Duplication (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2984572	NM_000191.3(HMGCL):c.876+7C>A	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 930617	NM_000191.3(HMGCL):c.876+1G>C	HMGCL	Single nucleotide variant (splice donor variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic
Select item 2085670	NM_000191.3(HMGCL):c.876G>T (p.Thr292=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 2827065	NM_000191.3(HMGCL):c.874dup (p.Thr292fs)	HMGCL (T292fs +1 more)	Duplication (frameshift variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic
Select item 1480535	NM_000191.3(HMGCL):c.875C>T (p.Thr292Met)	HMGCL (T292M +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 2725735	NM_000191.3(HMGCL):c.866G>A (p.Gly289Asp)	HMGCL (G218D +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 2676034	NM_000191.3(HMGCL):c.866del (p.Gly289fs)	HMGCL (G218fs +1 more)	Deletion (frameshift variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic/Likely pathogenic
Select item 552798	NM_000191.3(HMGCL):c.863T>A (p.Leu288Ter)	HMGCL (L288* +1 more)	Single nucleotide variant (nonsense)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely pathogenic
Select item 2764282	NM_000191.3(HMGCL):c.862T>C (p.Leu288=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2556074	NM_000191.3(HMGCL):c.860G>A (p.Gly287Asp)	HMGCL (G287D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 765802	NM_000191.3(HMGCL):c.858G>A (p.Glu286=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 632104	NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer)	HMGCL	Deletion (nonsense)	HMGCL-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2003642	NM_000191.3(HMGCL):c.849C>T (p.Tyr283=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 1124940	NM_000191.3(HMGCL):c.846C>T (p.Val282=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 1099057	NM_000191.3(HMGCL):c.843G>A (p.Leu281=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 1659226	NM_000191.3(HMGCL):c.841C>T (p.Leu281=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 1425028	NM_000191.3(HMGCL):c.841C>G (p.Leu281Val)	HMGCL (L281V +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 2798149	NM_000191.3(HMGCL):c.840C>T (p.Asp280=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 11958	NM_000191.3(HMGCL):c.835G>A (p.Glu279Lys)	HMGCL (E279K +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic
Select item 296847	NM_000191.3(HMGCL):c.828G>A (p.Leu276=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GConflicting classifications of pathogenicity
Select item 1116681	NM_000191.3(HMGCL):c.826T>C (p.Leu276=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 1621341	NM_000191.3(HMGCL):c.825C>T (p.Asn275=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 556736	NM_000191.3(HMGCL):c.825C>G (p.Asn275Lys)	HMGCL (N275K +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GConflicting classifications of pathogenicity
Select item 2165048	NM_000191.3(HMGCL):c.824A>G (p.Asn275Ser)	HMGCL (N204S +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1402741	NM_000191.3(HMGCL):c.820G>A (p.Gly274Arg)	HMGCL (G274R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1123283	NM_000191.3(HMGCL):c.816A>T (p.Ala272=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 1061122	NM_000191.3(HMGCL):c.814G>T (p.Ala272Ser)	HMGCL (A201S +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 2154923	NM_000191.3(HMGCL):c.811G>A (p.Gly271Arg)	HMGCL (G200R +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 2154799	NM_000191.3(HMGCL):c.806C>T (p.Ala269Val)	HMGCL (A269V +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1380049	NM_000191.3(HMGCL):c.805G>A (p.Ala269Thr)	HMGCL (A269T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 763312	NM_000191.3(HMGCL):c.804C>T (p.Tyr268=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 552412	NM_000191.3(HMGCL):c.804C>A (p.Tyr268Ter)	HMGCL (Y268* +1 more)	Single nucleotide variant (nonsense)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely pathogenic
Select item 2122383	NM_000191.3(HMGCL):c.801C>T (p.Pro267=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 1407539	NM_000191.3(HMGCL):c.800C>G (p.Pro267Arg)	HMGCL (P196R +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 644429	NM_000191.3(HMGCL):c.800C>A (p.Pro267His)	HMGCL (P267H +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1489777	NM_000191.3(HMGCL):c.799C>T (p.Pro267Ser)	HMGCL (P267S +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 552714	NM_000191.3(HMGCL):c.796T>C (p.Cys266Arg)	HMGCL (C266R +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1199287	NM_000191.3(HMGCL):c.795C>G (p.Gly265=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GConflicting classifications of pathogenicity
Select item 1145841	NM_000191.3(HMGCL):c.795C>T (p.Gly265=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 1909103	NM_000191.3(HMGCL):c.793G>A (p.Gly265Ser)	HMGCL (G265S +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 874229	NM_000191.3(HMGCL):c.787C>A (p.Leu263Ile)	HMGCL (L192I +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1609608	NM_000191.3(HMGCL):c.774T>C (p.Ser258=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 1529335	NM_000191.3(HMGCL):c.771C>T (p.Asp257=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 1324535	NM_000191.3(HMGCL):c.769del (p.Asp257fs)	HMGCL (D186fs +1 more)	Deletion (frameshift variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic
Select item 851587	NM_000191.3(HMGCL):c.766G>A (p.Val256Met)	HMGCL (V185M +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance

<< First< Prev

Page of 6