28199[HGNC] - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic
Select item 148511	GRCh38/hg38 11q23.3(chr11:115647670-117581883)x3	APOA1, APOA1-AS +83 more	Copy number gain	See cases	GUncertain significance
Select item 59774	GRCh38/hg38 11q23.3(chr11:116436425-118046231)x3	LOC130006826, LOC130006827 +90 more	Copy number gain	See cases	GPathogenic
Select item 2374265	NM_032725.4(BUD13):c.1789C>T (p.Arg597Cys)	BUD13 (R463C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135609	NM_032725.4(BUD13):c.1728T>G (p.Phe576Leu)	BUD13 (F442L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135608	NM_032725.4(BUD13):c.1709C>T (p.Ala570Val)	BUD13 (A436V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476500	NM_032725.4(BUD13):c.1700G>C (p.Ser567Thr)	BUD13 (S433T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611487	NM_032725.4(BUD13):c.1699A>G (p.Ser567Gly)	BUD13 (S567G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262328	NM_032725.4(BUD13):c.1693C>T (p.Arg565Cys)	BUD13 (R565C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135607	NM_032725.4(BUD13):c.1678A>G (p.Lys560Glu)	BUD13 (K426E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319848	NM_032725.4(BUD13):c.1675A>G (p.Asn559Asp)	BUD13 (N425D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353520	NM_032725.4(BUD13):c.1543A>G (p.Met515Val)	BUD13 (M515V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2540170	NM_032725.4(BUD13):c.1535A>T (p.Glu512Val)	BUD13 (E378V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310018	NM_032725.4(BUD13):c.1523A>C (p.Gln508Pro)	BUD13 (Q508P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135606	NM_032725.4(BUD13):c.1514G>A (p.Arg505Gln)	BUD13 (R371Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243199	NM_032725.4(BUD13):c.1456A>G (p.Lys486Glu)	BUD13 (K352E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135605	NM_032725.4(BUD13):c.1442G>T (p.Arg481Met)	BUD13 (R481M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219129	NM_032725.4(BUD13):c.1405C>T (p.Arg469Cys)	BUD13 (R335C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262324	NM_032725.4(BUD13):c.1357G>C (p.Glu453Gln)	BUD13 (E319Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300614	NM_032725.4(BUD13):c.1310G>A (p.Arg437Gln)	BUD13 (R437Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233843	NM_032725.4(BUD13):c.1271C>G (p.Ser424Cys)	BUD13 (S290C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346632	NM_032725.4(BUD13):c.1236T>A (p.Ser412Arg)	BUD13 (S412R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773014	NM_032725.4(BUD13):c.1163C>G (p.Ser388Cys)	BUD13 (S388C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2555233	NM_032725.4(BUD13):c.1090A>G (p.Ser364Gly)	BUD13 (S230G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262321	NM_032725.4(BUD13):c.1043G>T (p.Cys348Phe)	BUD13 (C214F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323797	NM_032725.4(BUD13):c.1008T>G (p.Phe336Leu)	BUD13 (F336L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305956	NM_032725.4(BUD13):c.986A>G (p.Lys329Arg)	BUD13 (K329R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224017	NM_032725.4(BUD13):c.983G>A (p.Arg328Gln)	BUD13 (R328Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224392	NM_032725.4(BUD13):c.877A>G (p.Arg293Gly)	BUD13 (R293G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411168	NM_032725.4(BUD13):c.820T>G (p.Leu274Val)	BUD13 (L274V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395077	NM_032725.4(BUD13):c.803G>A (p.Arg268His)	BUD13 (R268H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2570470	NM_032725.4(BUD13):c.802C>T (p.Arg268Cys)	BUD13 (R268C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486382	NM_032725.4(BUD13):c.743C>A (p.Ser248Tyr)	BUD13 (S248Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276071	NM_032725.4(BUD13):c.695G>A (p.Arg232His)	BUD13 (R232H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2211712	NM_032725.4(BUD13):c.694C>T (p.Arg232Cys)	BUD13 (R232C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244512	NM_032725.4(BUD13):c.671A>G (p.Asp224Gly)	BUD13 (D224G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389612	NM_032725.4(BUD13):c.655C>T (p.Arg219Cys)	BUD13 (R219C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614803	NM_032725.4(BUD13):c.638C>T (p.Ala213Val)	BUD13 (A213V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2290538	NM_032725.4(BUD13):c.625A>T (p.Asn209Tyr)	BUD13 (N209Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479574	NM_032725.4(BUD13):c.602C>A (p.Ser201Tyr)	BUD13 (S201Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135615	NM_032725.4(BUD13):c.566C>T (p.Pro189Leu)	BUD13 (P189L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248742	NM_032725.4(BUD13):c.557A>G (p.Asp186Gly)	BUD13 (D186G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135614	NM_032725.4(BUD13):c.490C>T (p.Pro164Ser)	BUD13 (P164S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605244	NM_032725.4(BUD13):c.434A>C (p.His145Pro)	BUD13 (H145P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135613	NM_032725.4(BUD13):c.431G>A (p.Arg144His)	BUD13 (R144H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135612	NM_032725.4(BUD13):c.407C>T (p.Pro136Leu)	BUD13 (P136L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594059	NM_032725.4(BUD13):c.395G>A (p.Arg132His)	BUD13 (R132H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326160	NM_032725.4(BUD13):c.386G>C (p.Arg129Thr)	BUD13 (R129T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135611	NM_032725.4(BUD13):c.380C>T (p.Ser127Phe)	BUD13 (S127F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262325	NM_032725.4(BUD13):c.359G>A (p.Arg120His)	BUD13 (R120H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2391504	NM_032725.4(BUD13):c.346A>G (p.Asn116Asp)	BUD13 (N116D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262329	NM_032725.4(BUD13):c.299G>A (p.Ser100Asn)	BUD13 (S100N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262322	NM_032725.4(BUD13):c.293G>T (p.Arg98Leu)	BUD13 (R98L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410387	NM_032725.4(BUD13):c.293G>A (p.Arg98His)	BUD13 (R98H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277677	NM_032725.4(BUD13):c.292C>T (p.Arg98Cys)	BUD13 (R98C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135610	NM_032725.4(BUD13):c.280A>G (p.Met94Val)	BUD13 (M94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345141	NM_032725.4(BUD13):c.259C>T (p.Arg87Trp)	BUD13 (R87W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291320	NM_032725.4(BUD13):c.245A>G (p.Glu82Gly)	BUD13 (E82G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262326	NM_032725.4(BUD13):c.148C>T (p.Arg50Trp)	BUD13 (R50W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470390	NM_032725.4(BUD13):c.145A>G (p.Met49Val)	BUD13 (M49V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596163	NM_032725.4(BUD13):c.120G>T (p.Lys40Asn)	BUD13 (K40N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135604	NM_032725.4(BUD13):c.119A>C (p.Lys40Thr)	BUD13 (K40T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135603	NM_032725.4(BUD13):c.107A>G (p.Lys36Arg)	BUD13 (K36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337735	NM_032725.4(BUD13):c.95G>T (p.Arg32Leu)	BUD13 (R32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262327	NM_032725.4(BUD13):c.85G>A (p.Glu29Lys)	BUD13 (E29K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270196	NM_032725.4(BUD13):c.83C>G (p.Ser28Cys)	BUD13 (S28C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550739	NM_032725.4(BUD13):c.77G>A (p.Arg26Gln)	BUD13 (R26Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353349	NM_032725.4(BUD13):c.70G>T (p.Val24Phe)	BUD13 (V24F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685424	GRCh37/hg19 11q23.3(chr11:116575812-116684028)x1	APOA5, BUD13 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2684656	GRCh37/hg19 11q23.3(chr11:115182164-116759502)x3	APOA1, APOA4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 812956	Single allele	APLP2, LINC02873 +169 more	Deletion	Anemia +7 more	GLikely pathogenic
Select item 688050	GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	AASDHPPT, ACAT1 +80 more	Copy number loss	not provided	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	ABCG4, APOA1 +72 more	Copy number gain	See cases	GPathogenic

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Items: 84