"Ambry Genetics"[submitter] AND "ZSCAN18"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2399227	NM_001145543.2(ZSCAN18):c.1489G>A (p.Val497Met)	ZSCAN18 (V361M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612688	NM_001145543.2(ZSCAN18):c.1486A>G (p.Ser496Gly)	ZSCAN18 (S552G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260036	NM_001145543.2(ZSCAN18):c.1478C>T (p.Pro493Leu)	ZSCAN18 (P357L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199333	NM_001145543.2(ZSCAN18):c.1456G>T (p.Ala486Ser)	ZSCAN18 (A542S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252230	NM_001145543.2(ZSCAN18):c.1409C>A (p.Ala470Glu)	ZSCAN18 (A334E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252229	NM_001145543.2(ZSCAN18):c.1408G>A (p.Ala470Thr)	ZSCAN18 (A334T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288398	NM_001145543.2(ZSCAN18):c.1396G>A (p.Glu466Lys)	ZSCAN18 (E522K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597841	NM_001145543.2(ZSCAN18):c.1393A>G (p.Lys465Glu)	ZSCAN18 (K329E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250257	NM_001145543.2(ZSCAN18):c.1334G>A (p.Gly445Asp)	ZSCAN18 (G309D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336457	NM_001145543.2(ZSCAN18):c.1324G>A (p.Ala442Thr)	ZSCAN18 (A442T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306942	NM_001145543.2(ZSCAN18):c.1298G>A (p.Ser433Asn)	ZSCAN18 (S297N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260033	NM_001145543.2(ZSCAN18):c.1294C>T (p.His432Tyr)	ZSCAN18 (H432Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215608	NM_001145543.2(ZSCAN18):c.1250A>T (p.Glu417Val)	ZSCAN18 (E281V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199332	NM_001145543.2(ZSCAN18):c.1241C>T (p.Ala414Val)	ZSCAN18 (A414V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199331	NM_001145543.2(ZSCAN18):c.1209C>A (p.Asp403Glu)	ZSCAN18 (D459E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199330	NM_001145543.2(ZSCAN18):c.1204G>C (p.Ala402Pro)	ZSCAN18 (A266P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204770	NM_001145543.2(ZSCAN18):c.1165G>A (p.Gly389Ser)	ZSCAN18 (G253S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2381590	NM_001145543.2(ZSCAN18):c.1157C>G (p.Ser386Cys)	ZSCAN18 (S250C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199329	NM_001145543.2(ZSCAN18):c.1124A>T (p.Glu375Val)	ZSCAN18 (E375V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588428	NM_001145543.2(ZSCAN18):c.1096A>C (p.Lys366Gln)	ZSCAN18 (K422Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261560	NM_001145543.2(ZSCAN18):c.1083C>G (p.Asp361Glu)	ZSCAN18 (D417E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260034	NM_001145543.2(ZSCAN18):c.1032C>A (p.Asp344Glu)	ZSCAN18 (D208E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480944	NM_001145543.2(ZSCAN18):c.994G>T (p.Ala332Ser)	ZSCAN18 (A196S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199328	NM_001145543.2(ZSCAN18):c.956C>T (p.Ser319Leu)	ZSCAN18 (S183L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354731	NM_001145543.2(ZSCAN18):c.950C>G (p.Pro317Arg)	ZSCAN18 (P317R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199327	NM_001145543.2(ZSCAN18):c.948T>A (p.Asp316Glu)	ZSCAN18 (D316E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349356	NM_001145543.2(ZSCAN18):c.882G>C (p.Glu294Asp)	ZSCAN18 (E294D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349355	NM_001145543.2(ZSCAN18):c.881A>C (p.Glu294Ala)	ZSCAN18 (E158A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335223	NM_001145543.2(ZSCAN18):c.824G>A (p.Gly275Glu)	ZSCAN18 (G331E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515251	NM_001145543.2(ZSCAN18):c.800G>A (p.Arg267Gln)	ZSCAN18 (R132Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2356041	NM_001145543.2(ZSCAN18):c.662A>T (p.Glu221Val)	ZSCAN18 (E221V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199337	NM_001145543.2(ZSCAN18):c.566C>T (p.Pro189Leu)	ZSCAN18 (P189L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2461296	NM_001145543.2(ZSCAN18):c.536C>T (p.Pro179Leu)	ZSCAN18 (P235L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199336	NM_001145543.2(ZSCAN18):c.509G>A (p.Ser170Asn)	ZSCAN18 (S35N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260035	NM_001145543.2(ZSCAN18):c.471G>A (p.Met157Ile)	ZSCAN18 (M213I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199335	NM_001145543.2(ZSCAN18):c.353A>G (p.Lys118Arg)	ZSCAN18 (K118R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199334	NM_001145543.2(ZSCAN18):c.184G>A (p.Gly62Arg)	ZSCAN18 (G118R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328650	NM_001145543.2(ZSCAN18):c.146G>A (p.Arg49His)	ZSCAN18 (R105H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253271	NM_001145543.2(ZSCAN18):c.50C>T (p.Pro17Leu)	ZSCAN18 (P73L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341688	NM_001145543.2(ZSCAN18):c.39C>G (p.Ser13Arg)	ZSCAN18 (S13R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392680	NM_001145543.2(ZSCAN18):c.-11G>A	ZSCAN18 (R53H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 41