MSANTD4[gene] - ClinVar

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Items: 48

	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 147379	GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1	LOC132089949, LOC132089950 +149 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 3211004	NM_032424.3(MSANTD4):c.1010G>A (p.Arg337Gln)	MSANTD4 (R337Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211068	NM_032424.3(MSANTD4):c.910C>T (p.Arg304Cys)	MSANTD4 (R304C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367263	NM_032424.3(MSANTD4):c.859A>G (p.Met287Val)	MSANTD4 (M287V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299308	NM_032424.3(MSANTD4):c.848G>A (p.Gly283Glu)	MSANTD4 (G283E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243577	NM_032424.3(MSANTD4):c.778G>C (p.Glu260Gln)	MSANTD4 (E260Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289266	NM_032424.3(MSANTD4):c.777T>G (p.Ile259Met)	MSANTD4 (I259M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601603	NM_032424.3(MSANTD4):c.746G>A (p.Arg249Gln)	MSANTD4 (R249Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233791	NM_032424.3(MSANTD4):c.724C>T (p.His242Tyr)	MSANTD4 (H242Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211044	NM_032424.3(MSANTD4):c.717G>C (p.Arg239Ser)	MSANTD4 (R239S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475686	NM_032424.3(MSANTD4):c.716G>A (p.Arg239Lys)	MSANTD4 (R239K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211035	NM_032424.3(MSANTD4):c.706G>A (p.Glu236Lys)	MSANTD4 (E236K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296204	NM_032424.3(MSANTD4):c.695G>A (p.Arg232His)	MSANTD4 (R232H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339686	NM_032424.3(MSANTD4):c.692A>G (p.Glu231Gly)	MSANTD4 (E231G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396416	NM_032424.3(MSANTD4):c.616A>G (p.Asn206Asp)	MSANTD4 (N206D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231523	NM_032424.3(MSANTD4):c.613G>A (p.Val205Ile)	MSANTD4 (V205I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296201	NM_032424.3(MSANTD4):c.600G>C (p.Glu200Asp)	MSANTD4 (E200D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336224	NM_032424.3(MSANTD4):c.574A>G (p.Thr192Ala)	MSANTD4 (T192A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211022	NM_032424.3(MSANTD4):c.499G>T (p.Val167Phe)	MSANTD4 (V167F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384820	NM_032424.3(MSANTD4):c.449C>T (p.Pro150Leu)	MSANTD4 (P150L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614429	NM_032424.3(MSANTD4):c.434A>G (p.Glu145Gly)	MSANTD4 (E145G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306121	NM_032424.3(MSANTD4):c.386C>T (p.Ala129Val)	MSANTD4 (A129V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218011	NM_032424.3(MSANTD4):c.383T>G (p.Val128Gly)	MSANTD4 (V128G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316681	NM_032424.3(MSANTD4):c.377A>C (p.Gln126Pro)	MSANTD4 (Q126P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211070	NM_032424.3(MSANTD4):c.94T>C (p.Phe32Leu)	MSANTD4 (F32L)	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: 48