ClinVar for Gene (Select 148254) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258654	NM_152791.5(ZNF555):c.616G>C (p.Gly206Arg)	ZNF555 (G206R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258653	NM_152791.5(ZNF555):c.916C>T (p.His306Tyr)	ZNF555 (H305Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258652	NM_152791.5(ZNF555):c.26T>C (p.Val9Ala)	ZNF555 (V9A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258650	NM_152791.5(ZNF555):c.1586C>T (p.Thr529Met)	ZNF555 (T529M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248515	NC_000019.9:g.(?_2430909)_(4171966_?)del	APBA3, ATCAY +42 more	Deletion	RASopathy	GUncertain significance
Select item 3248492	NC_000019.9:g.(?_2430909)_(3121177_?)dup	DIRAS1, GADD45B +13 more	Duplication	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 3196671	NM_152791.5(ZNF555):c.902G>A (p.Arg301Lys)	ZNF555 (R300K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196670	NM_152791.5(ZNF555):c.899G>A (p.Arg300Gln)	ZNF555 (R300Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196669	NM_152791.5(ZNF555):c.386A>G (p.His129Arg)	ZNF555 (H129R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196668	NM_152791.5(ZNF555):c.349A>G (p.Asn117Asp)	ZNF555 (N116D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196667	NM_152791.5(ZNF555):c.218C>T (p.Thr73Met)	ZNF555 (T73M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196665	NM_152791.5(ZNF555):c.1622G>A (p.Cys541Tyr)	ZNF555 (C541Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196664	NM_152791.5(ZNF555):c.146T>G (p.Phe49Cys)	ZNF555 (F49C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196663	NM_152791.5(ZNF555):c.1151G>A (p.Arg384Gln)	ZNF555 (R384Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2589093	NM_152791.5(ZNF555):c.283G>T (p.Asp95Tyr)	ZNF555 (D95Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537129	NM_152791.5(ZNF555):c.887C>G (p.Ser296Cys)	ZNF555 (S295C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515307	NM_152791.5(ZNF555):c.1871T>C (p.Met624Thr)	ZNF555 (M623T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510333	NM_152791.5(ZNF555):c.1664T>C (p.Met555Thr)	ZNF555 (M554T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509152	NM_152791.5(ZNF555):c.1637A>G (p.Lys546Arg)	ZNF555 (K545R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490748	NM_152791.5(ZNF555):c.941G>A (p.Cys314Tyr)	ZNF555 (C313Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484987	NM_152791.5(ZNF555):c.28G>C (p.Ala10Pro)	ZNF555 (A10P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469409	NM_152791.5(ZNF555):c.1179G>C (p.Glu393Asp)	ZNF555 (E393D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463908	NM_152791.5(ZNF555):c.1496T>C (p.Met499Thr)	ZNF555 (M499T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	ABHD17A, ADAMTSL5 +80 more	Duplication	not provided	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 2407815	NM_152791.5(ZNF555):c.445G>A (p.Gly149Arg)	ZNF555 (G149R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398966	NM_152791.5(ZNF555):c.467G>A (p.Arg156His)	ZNF555 (R155H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2383697	NM_152791.5(ZNF555):c.1235G>A (p.Arg412Gln)	ZNF555 (R411Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359655	NM_152791.5(ZNF555):c.1469A>G (p.Tyr490Cys)	ZNF555 (Y489C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318796	NM_152791.5(ZNF555):c.1168C>G (p.His390Asp)	ZNF555 (H389D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313680	NM_152791.5(ZNF555):c.1241A>G (p.His414Arg)	ZNF555 (H413R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309233	NM_152791.5(ZNF555):c.400A>G (p.Lys134Glu)	ZNF555 (K133E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303794	NM_152791.5(ZNF555):c.248T>C (p.Val83Ala)	ZNF555 (V83A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293257	NM_152791.5(ZNF555):c.1510G>A (p.Ala504Thr)	ZNF555 (A503T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285424	NM_152791.5(ZNF555):c.698G>A (p.Cys233Tyr)	ZNF555 (C232Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281086	NM_152791.5(ZNF555):c.109T>C (p.Phe37Leu)	ZNF555 (F37L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258533	NM_152791.5(ZNF555):c.1418T>C (p.Met473Thr)	ZNF555 (M473T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217488	NM_152791.5(ZNF555):c.1420C>A (p.His474Asn)	ZNF555 (H473N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 929386	GRCh37/hg19 19p13.3(chr19:2273150-2897133)x3	DIRAS1, GADD45B +15 more	Copy number gain	See cases	GUncertain significance
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ADAMTSL5, PLEKHJ1 +106 more	Copy number gain	not provided	GPathogenic
Select item 688246	GRCh37/hg19 19p13.3(chr19:2389731-2925532)x1	DIRAS1, GADD45B +10 more	Copy number loss	not provided	GUncertain significance
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 635917	NC_000019.9:g.1406030_3597207dup	AP3D1, SPPL2B +64 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 635915	Single allele	ATCAY, CACTIN +50 more	Deletion	Internal malformations	GUncertain significance
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	MIER2, MIR1909 +100 more	Copy number gain	Global developmental delay +2 more	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 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 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 57