"Ambry Genetics"[submitter] AND "ZNF250"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335251	NM_001109689.4(ZNF250):c.1597G>A (p.Gly533Arg)	ZNF250 (G533R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237555	NM_001109689.4(ZNF250):c.1471G>A (p.Val491Met)	ZNF250 (V470M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257175	NM_001109689.4(ZNF250):c.1429A>G (p.Thr477Ala)	ZNF250 (T461A +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3194668	NM_001109689.4(ZNF250):c.1264G>A (p.Glu422Lys)	ZNF250 (E401K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224076	NM_001109689.4(ZNF250):c.1240G>A (p.Glu414Lys)	ZNF250 (E393K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617458	NM_001109689.4(ZNF250):c.1116C>G (p.Ser372Arg)	ZNF250 (S377R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335250	NM_001109689.4(ZNF250):c.1107G>C (p.Lys369Asn)	ZNF250 (K374N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194666	NM_001109689.4(ZNF250):c.1096G>A (p.Glu366Lys)	ZNF250 (E350K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566247	NM_001109689.4(ZNF250):c.1024A>G (p.Thr342Ala)	ZNF250 (T347A +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3194670	NM_001109689.4(ZNF250):c.856G>A (p.Ala286Thr)	ZNF250 (A270T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373080	NM_001109689.4(ZNF250):c.835G>A (p.Glu279Lys)	ZNF250 (E284K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475446	NM_001109689.4(ZNF250):c.785G>T (p.Ser262Ile)	ZNF250 (S241I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361836	NM_001109689.4(ZNF250):c.565A>T (p.Ser189Cys)	ZNF250 (S173C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335252	NM_001109689.4(ZNF250):c.545C>T (p.Thr182Ile)	ZNF250 (T161I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389134	NM_001109689.4(ZNF250):c.509G>A (p.Arg170His)	ZNF250 (R170H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368198	NM_001109689.4(ZNF250):c.508C>G (p.Arg170Gly)	ZNF250 (R154G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618938	NM_001109689.4(ZNF250):c.459T>A (p.Asn153Lys)	ZNF250 (N132K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454884	NM_001109689.4(ZNF250):c.404C>T (p.Ser135Leu)	ZNF250 (S119L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194669	NM_001109689.4(ZNF250):c.389C>T (p.Pro130Leu)	ZNF250 (P114L +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2251175	NM_001109689.4(ZNF250):c.307A>G (p.Thr103Ala)	ZNF250 (T108A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405801	NM_001109689.4(ZNF250):c.278A>G (p.Tyr93Cys)	ZNF250 (Y98C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602880	NM_001109689.4(ZNF250):c.262G>A (p.Gly88Ser)	ZNF250 (G93S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312135	NM_001109689.4(ZNF250):c.43-6T>G	ZNF250 (F18V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301476	NM_001109689.4(ZNF250):c.11C>G (p.Ala4Gly)	ZNF250 (A4G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 24