ClinVar for Gene (Select 60496) - ClinVar

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

Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3142244	NM_015423.3(AASDHPPT):c.844G>A (p.Val282Ile)	AASDHPPT (V282I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141953	NM_015423.3(AASDHPPT):c.383T>C (p.Ile128Thr)	AASDHPPT (I128T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2607578	NM_015423.3(AASDHPPT):c.214G>T (p.Ala72Ser)	AASDHPPT (A72S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596438	NM_015423.3(AASDHPPT):c.305A>G (p.Tyr102Cys)	AASDHPPT (Y102C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593169	NM_015423.3(AASDHPPT):c.745G>A (p.Asp249Asn)	AASDHPPT (D249N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590629	NM_015423.3(AASDHPPT):c.35C>T (p.Pro12Leu)	AASDHPPT, LOC130006679 (P12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559529	NM_015423.3(AASDHPPT):c.572T>C (p.Leu191Pro)	AASDHPPT (L191P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461955	NM_015423.3(AASDHPPT):c.308C>T (p.Pro103Leu)	AASDHPPT (P103L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460141	NM_015423.3(AASDHPPT):c.286A>G (p.Lys96Glu)	AASDHPPT (K96E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405412	NM_015423.3(AASDHPPT):c.34C>T (p.Pro12Ser)	AASDHPPT, LOC130006679 (P12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389767	NM_015423.3(AASDHPPT):c.559A>G (p.Ile187Val)	AASDHPPT (I187V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383347	NM_015423.3(AASDHPPT):c.214G>A (p.Ala72Thr)	AASDHPPT (A72T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363384	NM_015423.3(AASDHPPT):c.680A>C (p.Glu227Ala)	AASDHPPT (E227A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351183	NM_015423.3(AASDHPPT):c.140G>A (p.Arg47His)	AASDHPPT, LOC130006679 (R47H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339354	NM_015423.3(AASDHPPT):c.559A>C (p.Ile187Leu)	AASDHPPT (I187L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317169	NM_015423.3(AASDHPPT):c.247C>T (p.Arg83Cys)	AASDHPPT (R83C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301322	NM_015423.3(AASDHPPT):c.907A>G (p.Ile303Val)	AASDHPPT (I303V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295124	NM_015423.3(AASDHPPT):c.235T>G (p.Trp79Gly)	AASDHPPT (W79G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264755	NM_015423.3(AASDHPPT):c.811A>G (p.Ile271Val)	AASDHPPT (I271V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254005	NM_015423.3(AASDHPPT):c.371T>C (p.Leu124Pro)	AASDHPPT (L124P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245766	NM_015423.3(AASDHPPT):c.301C>A (p.Pro101Thr)	AASDHPPT (P101T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233458	NM_015423.3(AASDHPPT):c.811A>C (p.Ile271Leu)	AASDHPPT (I271L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807688	GRCh37/hg19 11q22.1-22.3(chr11:101371503-109306519)x1	ACAT1, ALKBH8 +47 more	Copy number loss	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 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	FDXACB1, FUT4 +94 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
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 815469	GRCh37/hg19 11q22.3(chr11:105875295-106313332)x4	KBTBD3, MSANTD4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 815468	GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1	AASDHPPT, ACAT1 +68 more	Copy number loss	not provided	GPathogenic
Select item 815464	GRCh37/hg19 11q22.3(chr11:103983847-106914369)x3	AASDHPPT, CARD16 +11 more	Copy number gain	not provided	GUncertain significance
Select item 815463	GRCh37/hg19 11q22.3(chr11:103980525-106914369)x1	AASDHPPT, CARD16 +11 more	Copy number loss	not provided	GUncertain significance
Select item 815462	GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	AASDHPPT, ACAT1 +76 more	Copy number loss	not provided	GPathogenic
Select item 688827	GRCh37/hg19 11q22.3(chr11:105875296-106210917)x1	AASDHPPT, KBTBD3 +1 more	Copy number loss	not provided	GUncertain significance
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 563877	GRCh37/hg19 11q22.2-22.3(chr11:102578709-107230611)x1	AASDHPPT, CARD16 +22 more	Copy number loss	not provided	GLikely pathogenic
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 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +95 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 59773	GRCh38/hg38 11q22.3(chr11:104142626-107019997)x3	AASDHPPT, CARD16 +40 more	Copy number gain	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 45