ClinVar for Gene (Select 7596) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3195885	NM_003425.4(ZNF45):c.718A>G (p.Arg240Gly)	ZNF45, ZNF45-AS1 (R240G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195884	NM_003425.4(ZNF45):c.608G>A (p.Arg203Gln)	ZNF45, ZNF45-AS1 (R203Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195883	NM_003425.4(ZNF45):c.488C>G (p.Pro163Arg)	ZNF45, ZNF45-AS1 (P163R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195882	NM_003425.4(ZNF45):c.314C>T (p.Ser105Phe)	ZNF45, ZNF45-AS1 (S105F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195881	NM_003425.4(ZNF45):c.225T>G (p.Asp75Glu)	ZNF45, ZNF45-AS1 (D75E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195880	NM_003425.4(ZNF45):c.1906G>A (p.Gly636Arg)	ZNF45, ZNF45-AS1 (G636R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195879	NM_003425.4(ZNF45):c.1700G>A (p.Arg567Gln)	ZNF45, ZNF45-AS1 (R567Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195878	NM_003425.4(ZNF45):c.1337G>A (p.Cys446Tyr)	ZNF45, ZNF45-AS1 (C446Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195877	NM_003425.4(ZNF45):c.1279C>T (p.Arg427Cys)	ZNF45, ZNF45-AS1 (R427C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195876	NM_003425.4(ZNF45):c.101G>A (p.Arg34Gln)	ZNF45, ZNF45-AS1 (R34Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614024	NM_003425.4(ZNF45):c.457C>G (p.Gln153Glu)	ZNF45, ZNF45-AS1 (Q153E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600233	NM_003425.4(ZNF45):c.1754G>A (p.Arg585Gln)	ZNF45, ZNF45-AS1 (R585Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593301	NM_003425.4(ZNF45):c.985G>C (p.Glu329Gln)	ZNF45, ZNF45-AS1 (E329Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589836	NM_003425.4(ZNF45):c.89G>A (p.Arg30Lys)	ZNF45, ZNF45-AS1 (R30K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550947	NM_003425.4(ZNF45):c.838G>C (p.Glu280Gln)	ZNF45, ZNF45-AS1 (E280Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549916	NM_003425.4(ZNF45):c.1855A>G (p.Lys619Glu)	ZNF45, ZNF45-AS1 (K619E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533642	NM_003425.4(ZNF45):c.881A>T (p.His294Leu)	ZNF45, ZNF45-AS1 (H294L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526274	NM_003425.4(ZNF45):c.824C>T (p.Pro275Leu)	ZNF45, ZNF45-AS1 (P275L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519590	NM_003425.4(ZNF45):c.604C>T (p.Arg202Cys)	ZNF45, ZNF45-AS1 (R202C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519483	NM_003425.4(ZNF45):c.535C>T (p.Leu179Phe)	ZNF45, ZNF45-AS1 (L179F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519443	NM_003425.4(ZNF45):c.826T>C (p.Tyr276His)	ZNF45, ZNF45-AS1 (Y276H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517338	NM_003425.4(ZNF45):c.662C>G (p.Thr221Arg)	ZNF45, ZNF45-AS1 (T221R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492397	NM_003425.4(ZNF45):c.629A>T (p.His210Leu)	ZNF45, ZNF45-AS1 (H210L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491860	NM_003425.4(ZNF45):c.157C>A (p.Pro53Thr)	ZNF45, ZNF45-AS1 (P53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485825	NM_003425.4(ZNF45):c.772G>A (p.Gly258Arg)	ZNF45, ZNF45-AS1 (G258R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2469020	NM_003425.4(ZNF45):c.1241A>T (p.Lys414Ile)	ZNF45, ZNF45-AS1 (K414I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457508	NM_003425.4(ZNF45):c.478G>C (p.Gly160Arg)	ZNF45, ZNF45-AS1 (G160R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425936	NC_000019.9:g.(?_44011002)_(45213778_?)dup	ZNF229, ZNF230 +37 more	Duplication	Ethylmalonic encephalopathy	GUncertain significance
Select item 2396301	NM_003425.4(ZNF45):c.1931A>C (p.Glu644Ala)	ZNF45, ZNF45-AS1 (E644A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394085	NM_003425.4(ZNF45):c.502C>T (p.His168Tyr)	ZNF45, ZNF45-AS1 (H168Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392821	NM_003425.4(ZNF45):c.599C>T (p.Ala200Val)	ZNF45, ZNF45-AS1 (A200V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378573	NM_003425.4(ZNF45):c.559G>A (p.Ala187Thr)	ZNF45, ZNF45-AS1 (A187T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371990	NM_003425.4(ZNF45):c.5C>T (p.Thr2Met)	ZNF45, ZNF45-AS1 (T2M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357163	NM_003425.4(ZNF45):c.1339G>A (p.Glu447Lys)	ZNF45, ZNF45-AS1 (E447K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342605	NM_003425.4(ZNF45):c.1684G>A (p.Gly562Arg)	ZNF45, ZNF45-AS1 (G562R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321865	NM_003425.4(ZNF45):c.637G>A (p.Val213Ile)	ZNF45, ZNF45-AS1 (V213I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307959	NM_003425.4(ZNF45):c.424G>T (p.Asp142Tyr)	ZNF45, ZNF45-AS1 (D142Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307791	NM_003425.4(ZNF45):c.1081A>G (p.Lys361Glu)	ZNF45, ZNF45-AS1 (K361E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289243	NM_003425.4(ZNF45):c.491A>G (p.Tyr164Cys)	ZNF45, ZNF45-AS1 (Y164C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277112	NM_003425.4(ZNF45):c.1554T>A (p.His518Gln)	ZNF45, ZNF45-AS1 (H518Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275506	NM_003425.4(ZNF45):c.1723C>T (p.Arg575Cys)	ZNF45, ZNF45-AS1 (R575C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270724	NM_003425.4(ZNF45):c.2004C>G (p.Asp668Glu)	ZNF45, ZNF45-AS1 (D668E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250489	NM_003425.4(ZNF45):c.1195C>T (p.Arg399Trp)	ZNF45, ZNF45-AS1 (R399W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246786	NM_003425.4(ZNF45):c.1976A>G (p.Gln659Arg)	ZNF45, ZNF45-AS1 (Q659R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
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 442437	GRCh37/hg19 19q13.31-13.32(chr19:44300416-45639540)x1	APOC1, APOC2 +39 more	Copy number loss	See cases	GUncertain significance
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	ERCC2, PPP5C +121 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 51