AASDHPPT[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 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 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	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 2405412	NM_015423.3(AASDHPPT):c.34C>T (p.Pro12Ser)	AASDHPPT, LOC130006679 (P12S)	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 2351183	NM_015423.3(AASDHPPT):c.140G>A (p.Arg47His)	AASDHPPT, LOC130006679 (R47H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2383347	NM_015423.3(AASDHPPT):c.214G>A (p.Ala72Thr)	AASDHPPT (A72T)	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 2317169	NM_015423.3(AASDHPPT):c.247C>T (p.Arg83Cys)	AASDHPPT (R83C)	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 2245766	NM_015423.3(AASDHPPT):c.301C>A (p.Pro101Thr)	AASDHPPT (P101T)	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 2461955	NM_015423.3(AASDHPPT):c.308C>T (p.Pro103Leu)	AASDHPPT (P103L)	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 3141953	NM_015423.3(AASDHPPT):c.383T>C (p.Ile128Thr)	AASDHPPT (I128T)	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 2339354	NM_015423.3(AASDHPPT):c.559A>C (p.Ile187Leu)	AASDHPPT (I187L)	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 2363384	NM_015423.3(AASDHPPT):c.680A>C (p.Glu227Ala)	AASDHPPT (E227A)	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 2264755	NM_015423.3(AASDHPPT):c.811A>G (p.Ile271Val)	AASDHPPT (I271V)	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 3142244	NM_015423.3(AASDHPPT):c.844G>A (p.Val282Ile)	AASDHPPT (V282I)	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 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
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

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Items: 45