ZNF57[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC116276498, LOC121627842 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	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 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 155019	GRCh38/hg38 19p13.3(chr19:2884401-3451078)x3	CELF5, GNA11 +50 more	Copy number gain	See cases	GUncertain significance
Select item 3196796	NM_173480.3(ZNF57):c.103G>A (p.Glu35Lys)	ZNF57 (E3K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196799	NM_173480.3(ZNF57):c.139A>T (p.Thr47Ser)	ZNF57 (T15S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293758	NM_173480.3(ZNF57):c.286C>T (p.His96Tyr)	ZNF57 (H64Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409668	NM_173480.3(ZNF57):c.377A>G (p.Asp126Gly)	ZNF57 (D126G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196800	NM_173480.3(ZNF57):c.396A>C (p.Lys132Asn)	ZNF57 (K100N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196801	NM_173480.3(ZNF57):c.397G>A (p.Val133Ile)	ZNF57 (V101I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2411634	NM_173480.3(ZNF57):c.452A>T (p.His151Leu)	ZNF57 (H119L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372707	NM_173480.3(ZNF57):c.474C>A (p.His158Gln)	ZNF57 (H158Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296076	NM_173480.3(ZNF57):c.475G>C (p.Val159Leu)	ZNF57 (V159L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607271	NM_173480.3(ZNF57):c.509G>A (p.Gly170Asp)	ZNF57 (G170D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196802	NM_173480.3(ZNF57):c.614T>C (p.Phe205Ser)	ZNF57 (F205S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349015	NM_173480.3(ZNF57):c.643G>A (p.Val215Ile)	ZNF57 (V183I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196803	NM_173480.3(ZNF57):c.650C>T (p.Thr217Ile)	ZNF57 (T217I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623183	NM_173480.3(ZNF57):c.695C>G (p.Ala232Gly)	ZNF57 (A200G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469797	NM_173480.3(ZNF57):c.695C>T (p.Ala232Val)	ZNF57 (A200V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196804	NM_173480.3(ZNF57):c.712A>G (p.Ser238Gly)	ZNF57 (S238G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346719	NM_173480.3(ZNF57):c.794C>G (p.Ser265Trp)	ZNF57 (S265W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217979	NM_173480.3(ZNF57):c.813G>T (p.Met271Ile)	ZNF57 (M239I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266146	NM_173480.3(ZNF57):c.875C>T (p.Pro292Leu)	ZNF57 (P260L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370795	NM_173480.3(ZNF57):c.908C>T (p.Thr303Met)	ZNF57 (T271M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606838	NM_173480.3(ZNF57):c.936G>C (p.Gln312His)	ZNF57 (Q280H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196805	NM_173480.3(ZNF57):c.941G>A (p.Gly314Glu)	ZNF57 (G282E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623565	NM_173480.3(ZNF57):c.963A>C (p.Glu321Asp)	ZNF57 (E289D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196806	NM_173480.3(ZNF57):c.994G>A (p.Gly332Arg)	ZNF57 (G300R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196797	NM_173480.3(ZNF57):c.1087C>T (p.Pro363Ser)	ZNF57 (P331S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208429	NM_173480.3(ZNF57):c.1114G>A (p.Ala372Thr)	ZNF57 (A372T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249694	NM_173480.3(ZNF57):c.1121C>G (p.Thr374Ser)	ZNF57 (T374S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288791	NM_173480.3(ZNF57):c.1132A>C (p.Thr378Pro)	ZNF57 (T346P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240692	NM_173480.3(ZNF57):c.1145A>G (p.His382Arg)	ZNF57 (H350R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588414	NM_173480.3(ZNF57):c.1160C>T (p.Thr387Met)	ZNF57 (T355M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359647	NM_173480.3(ZNF57):c.1238C>T (p.Thr413Met)	ZNF57 (T413M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347363	NM_173480.3(ZNF57):c.1268A>C (p.Lys423Thr)	ZNF57 (K391T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258169	NM_173480.3(ZNF57):c.1305T>G (p.Phe435Leu)	ZNF57 (F403L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244293	NM_173480.3(ZNF57):c.1355A>G (p.His452Arg)	ZNF57 (H452R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648979	NM_173480.3(ZNF57):c.1368C>T (p.Ala456=)	ZNF57	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3196798	NM_173480.3(ZNF57):c.1370T>C (p.Phe457Ser)	ZNF57 (F457S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292399	NM_173480.3(ZNF57):c.1397A>T (p.His466Leu)	ZNF57 (H434L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372410	NM_173480.3(ZNF57):c.1528G>A (p.Gly510Arg)	ZNF57 (G510R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508266	NM_173480.3(ZNF57):c.1559G>A (p.Arg520Gln)	ZNF57 (R488Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486067	NM_173480.3(ZNF57):c.1567C>A (p.Leu523Met)	ZNF57 (L491M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263546	NM_173480.3(ZNF57):c.1598A>C (p.Glu533Ala)	ZNF57 (E501A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 47