ClinVar for Gene (Select 143879) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3287466	NM_198439.3(KBTBD3):c.1053A>C (p.Lys351Asn)	KBTBD3 (K351N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287465	NM_198439.3(KBTBD3):c.1285C>T (p.Pro429Ser)	KBTBD3 (P429S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287464	NM_198439.3(KBTBD3):c.1246C>T (p.Arg416Trp)	KBTBD3 (R337W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112968	NM_198439.3(KBTBD3):c.996G>T (p.Leu332Phe)	KBTBD3 (L253F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112967	NM_198439.3(KBTBD3):c.673C>T (p.His225Tyr)	KBTBD3 (H146Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112966	NM_198439.3(KBTBD3):c.547T>G (p.Leu183Val)	KBTBD3 (L183V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112964	NM_198439.3(KBTBD3):c.370A>G (p.Met124Val)	KBTBD3 (M124V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112963	NM_198439.3(KBTBD3):c.356A>G (p.Asp119Gly)	KBTBD3 (D40G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112962	NM_198439.3(KBTBD3):c.287C>T (p.Thr96Ile)	KBTBD3 (T96I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112961	NM_198439.3(KBTBD3):c.1372G>A (p.Val458Ile)	KBTBD3 (V379I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112960	NM_198439.3(KBTBD3):c.1268A>G (p.Asp423Gly)	KBTBD3 (D344G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2642347	NM_198439.3(KBTBD3):c.-12-7A>G	KBTBD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2547033	NM_198439.3(KBTBD3):c.524A>G (p.His175Arg)	KBTBD3 (H96R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545565	NM_198439.3(KBTBD3):c.487A>G (p.Ser163Gly)	KBTBD3 (S163G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530572	NM_198439.3(KBTBD3):c.1510G>A (p.Ala504Thr)	KBTBD3 (A425T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529559	NM_198439.3(KBTBD3):c.536A>T (p.His179Leu)	KBTBD3 (H179L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492312	NM_198439.3(KBTBD3):c.35A>G (p.Asn12Ser)	KBTBD3 (N12S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477688	NM_198439.3(KBTBD3):c.1646T>A (p.Ile549Asn)	KBTBD3 (I470N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405064	NM_198439.3(KBTBD3):c.574G>C (p.Glu192Gln)	KBTBD3 (E113Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394415	NM_198439.3(KBTBD3):c.1035C>G (p.Phe345Leu)	KBTBD3 (F345L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390907	NM_198439.3(KBTBD3):c.1266A>T (p.Leu422Phe)	KBTBD3 (L343F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371582	NM_198439.3(KBTBD3):c.1282A>C (p.Asn428His)	KBTBD3 (N349H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349858	NM_198439.3(KBTBD3):c.1439A>G (p.Asn480Ser)	KBTBD3 (N480S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341055	NM_198439.3(KBTBD3):c.1037T>C (p.Leu346Ser)	KBTBD3 (L267S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338507	NM_198439.3(KBTBD3):c.506T>G (p.Leu169Trp)	KBTBD3 (L90W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336636	NM_198439.3(KBTBD3):c.988A>T (p.Ile330Phe)	KBTBD3 (I330F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334643	NM_198439.3(KBTBD3):c.14T>G (p.Met5Arg)	KBTBD3 (M5R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323927	NM_198439.3(KBTBD3):c.823A>G (p.Ile275Val)	KBTBD3 (I196V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315954	NM_198439.3(KBTBD3):c.1275A>C (p.Glu425Asp)	KBTBD3 (E346D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290818	NM_198439.3(KBTBD3):c.247G>A (p.Val83Ile)	KBTBD3 (V4I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277490	NM_198439.3(KBTBD3):c.946A>G (p.Ile316Val)	KBTBD3 (I237V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253022	NM_198439.3(KBTBD3):c.1088C>T (p.Ala363Val)	KBTBD3 (A363V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247189	NM_198439.3(KBTBD3):c.1727G>A (p.Arg576Lys)	KBTBD3 (R576K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243456	NM_198439.3(KBTBD3):c.1076G>A (p.Arg359Gln)	KBTBD3 (R359Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226484	NM_198439.3(KBTBD3):c.191C>T (p.Pro64Leu)	KBTBD3 (P64L)	Single nucleotide variant (missense variant +1 more)	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 147379	GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1	LOC132089949, LOC132089950 +149 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

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Germline classification

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Links from Gene

Items: 59