"Ambry Genetics"[submitter] AND "ZNF253"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3194683	NM_021047.3(ZNF253):c.76C>T (p.Arg26Trp)	ZNF253 (R26W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489678	NM_021047.3(ZNF253):c.184C>A (p.Pro62Thr)	ZNF253 (P62T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2407317	NM_021047.3(ZNF253):c.194T>C (p.Met65Thr)	ZNF253 (M1T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2333617	NM_021047.3(ZNF253):c.212T>C (p.Ile71Thr)	ZNF253 (I71T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380949	NM_021047.3(ZNF253):c.281T>C (p.Phe94Ser)	ZNF253 (F30S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621915	NM_021047.3(ZNF253):c.290G>T (p.Gly97Val)	ZNF253 (G21V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404565	NM_021047.3(ZNF253):c.302G>C (p.Arg101Thr)	ZNF253 (R37T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194680	NM_021047.3(ZNF253):c.370G>A (p.Val124Met)	ZNF253 (V60M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194681	NM_021047.3(ZNF253):c.419A>C (p.Gln140Pro)	ZNF253 (Q140P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532684	NM_021047.3(ZNF253):c.431T>G (p.Phe144Cys)	ZNF253 (F68C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194682	NM_021047.3(ZNF253):c.491C>T (p.Thr164Ile)	ZNF253 (T164I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2412505	NM_021047.3(ZNF253):c.526A>C (p.Ile176Leu)	ZNF253 (I112L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222108	NM_021047.3(ZNF253):c.547C>T (p.Arg183Trp)	ZNF253 (R183W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365906	NM_021047.3(ZNF253):c.565A>G (p.Thr189Ala)	ZNF253 (T125A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406556	NM_021047.3(ZNF253):c.653A>C (p.His218Pro)	ZNF253 (H154P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216366	NM_021047.3(ZNF253):c.839G>C (p.Gly280Ala)	ZNF253 (G216A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404068	NM_021047.3(ZNF253):c.853A>C (p.Lys285Gln)	ZNF253 (K209Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337144	NM_021047.3(ZNF253):c.894C>G (p.His298Gln)	ZNF253 (H234Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494227	NM_021047.3(ZNF253):c.986T>C (p.Ile329Thr)	ZNF253 (I329T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532079	NM_021047.3(ZNF253):c.1157A>G (p.His386Arg)	ZNF253 (H310R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357489	NM_021047.3(ZNF253):c.1347G>C (p.Glu449Asp)	ZNF253 (E373D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194679	NM_021047.3(ZNF253):c.1471G>A (p.Val491Ile)	ZNF253 (V427I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 22