ClinVar for Gene (Select 56961) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062389	GRCh37/hg19 19p13.3(chr19:3788725-4881494)x1	EBI3, EEF2 +30 more	Copy number loss	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2616832	NM_020209.4(SHD):c.322G>C (p.Asp108His)	SHD (D108H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552689	NM_020209.4(SHD):c.871C>T (p.Arg291Trp)	SHD (R291W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538926	NM_020209.4(SHD):c.1016C>A (p.Thr339Asn)	SHD (T339N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537661	NM_020209.4(SHD):c.361G>A (p.Asp121Asn)	SHD (D121N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535364	NM_020209.4(SHD):c.364G>A (p.Gly122Arg)	SHD (G122R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ABCA7, ABHD17A +151 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2412148	NM_020209.4(SHD):c.197C>T (p.Pro66Leu)	SHD (P66L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402833	NM_020209.4(SHD):c.749C>G (p.Ala250Gly)	SHD (A250G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400973	NM_020209.4(SHD):c.504C>G (p.Ser168Arg)	SHD (S168R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395811	NM_020209.4(SHD):c.1010C>T (p.Thr337Met)	SHD (T337M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376599	NM_020209.4(SHD):c.931G>A (p.Glu311Lys)	SHD (E311K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370637	NM_020209.4(SHD):c.356C>T (p.Pro119Leu)	SHD (P119L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355620	NM_020209.4(SHD):c.984T>A (p.His328Gln)	SHD (H328Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354106	NM_020209.4(SHD):c.421G>A (p.Val141Met)	SHD (V141M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349458	NM_020209.4(SHD):c.155G>T (p.Arg52Leu)	SHD (R52L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342213	NM_020209.4(SHD):c.979G>A (p.Glu327Lys)	SHD (E327K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333824	NM_020209.4(SHD):c.38G>A (p.Gly13Asp)	SHD (G13D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323222	NM_020209.4(SHD):c.605G>C (p.Ser202Thr)	SHD (S202T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294599	NM_020209.4(SHD):c.522T>A (p.Asp174Glu)	SHD (D174E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287755	NM_020209.4(SHD):c.878G>A (p.Arg293His)	SHD (R293H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257120	NM_020209.4(SHD):c.247G>T (p.Ala83Ser)	SHD (A83S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247498	NM_020209.4(SHD):c.995T>C (p.Leu332Pro)	SHD (L332P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244484	NM_020209.4(SHD):c.1019C>T (p.Pro340Leu)	SHD (P340L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237919	NM_020209.4(SHD):c.17G>T (p.Arg6Leu)	SHD (R6L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222691	NM_020209.4(SHD):c.229C>T (p.Arg77Trp)	SHD (R77W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221366	NM_020209.4(SHD):c.625C>T (p.Pro209Ser)	SHD (P209S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1340547	GRCh37/hg19 19p13.3(chr19:3501624-5357124)x1	ANKRD24, APBA3 +46 more	Copy number loss	not provided	GPathogenic
Select item 1340338	GRCh37/hg19 19p13.3(chr19:4182912-4633772)x3	ANKRD24, CHAF1A +13 more	Copy number gain	not provided	GUncertain significance
Select item 1047892	GRCh37/hg19 19p13.3(chr19:3976203-4345430)	STAP2, TMIGD2 +12 more	Copy number loss	Obesity +1 more	GPathogenic
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 625734	GRCh37/hg19 19p13.3(chr19:3076808-4796782)	ANKRD24, APBA3 +48 more	Copy number loss	not provided	GPathogenic
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 549647	Single allele	CREB3L3, SHD +28 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 155547	GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1	ANKRD24, ARRDC5 +150 more	Copy number loss	See cases	GLikely pathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 144751	GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3	ANKRD24, ARRDC5 +145 more	Copy number gain	See cases	GUncertain significance
Select item 60071	GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1	ZFR2, ANKRD24 +142 more	Copy number loss	See cases	GPathogenic
Select item 59083	GRCh38/hg38 19p13.3(chr19:4008560-4763159)x3	ANKRD24, CHAF1A +99 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	ABCA7, ABHD17A +687 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 52