"Ambry Genetics"[submitter] AND "ZSCAN5A"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2241351	NM_001322064.3(ZSCAN5A):c.1481C>T (p.Thr494Ile)	ZSCAN5A (T494I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268394	NM_001322064.3(ZSCAN5A):c.1436G>A (p.Arg479Gln)	ZSCAN5A (R349Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2246609	NM_001322064.3(ZSCAN5A):c.1349C>G (p.Thr450Ser)	ZSCAN5A (T333S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3199463	NM_001322064.3(ZSCAN5A):c.1246G>A (p.Val416Ile)	ZSCAN5A (V286I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240270	NM_001322064.3(ZSCAN5A):c.1175G>A (p.Arg392His)	ZSCAN5A (R262H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334579	NM_001322064.3(ZSCAN5A):c.1141G>A (p.Glu381Lys)	ZSCAN5A (E251K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217161	NM_001322064.3(ZSCAN5A):c.1045G>A (p.Glu349Lys)	ZSCAN5A (E219K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516062	NM_001322064.3(ZSCAN5A):c.1034C>T (p.Pro345Leu)	ZSCAN5A (P228L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307239	NM_001322064.3(ZSCAN5A):c.1015G>A (p.Ala339Thr)	ZSCAN5A (A339T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398066	NM_001322064.3(ZSCAN5A):c.974C>T (p.Pro325Leu)	ZSCAN5A (P195L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199471	NM_001322064.3(ZSCAN5A):c.958G>A (p.Gly320Ser)	ZSCAN5A (G190S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309676	NM_001322064.3(ZSCAN5A):c.932A>G (p.Glu311Gly)	ZSCAN5A (E181G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248344	NM_001322064.3(ZSCAN5A):c.928G>A (p.Glu310Lys)	ZSCAN5A (E193K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396275	NM_001322064.3(ZSCAN5A):c.890C>T (p.Pro297Leu)	ZSCAN5A (P297L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396274	NM_001322064.3(ZSCAN5A):c.886A>G (p.Ser296Gly)	ZSCAN5A (S179G +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2291002	NM_001322064.3(ZSCAN5A):c.871G>A (p.Ala291Thr)	ZSCAN5A (A161T +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2569137	NM_001322064.3(ZSCAN5A):c.856G>A (p.Gly286Arg)	ZSCAN5A (G169R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591337	NM_001322064.3(ZSCAN5A):c.823T>C (p.Cys275Arg)	ZSCAN5A (C145R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260100	NM_001322064.3(ZSCAN5A):c.782T>G (p.Ile261Arg)	ZSCAN5A (I260R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260099	NM_001322064.3(ZSCAN5A):c.773C>T (p.Pro258Leu)	ZSCAN5A (P257L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199469	NM_001322064.3(ZSCAN5A):c.737C>T (p.Pro246Leu)	ZSCAN5A (P116L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593201	NM_001322064.3(ZSCAN5A):c.650C>T (p.Pro217Leu)	ZSCAN5A (P100L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199468	NM_001322064.3(ZSCAN5A):c.644T>C (p.Leu215Pro)	ZSCAN5A (L215P +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2490279	NM_001322064.3(ZSCAN5A):c.641C>T (p.Ser214Phe)	ZSCAN5A (S97F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199467	NM_001322064.3(ZSCAN5A):c.639G>C (p.Lys213Asn)	ZSCAN5A (K213N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392801	NM_001322064.3(ZSCAN5A):c.628G>C (p.Gly210Arg)	ZSCAN5A (G210R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514109	NM_001322064.3(ZSCAN5A):c.622G>A (p.Val208Ile)	ZSCAN5A (V78I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518791	NM_001322064.3(ZSCAN5A):c.518G>T (p.Arg173Leu)	ZSCAN5A (R43L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400007	NM_001322064.3(ZSCAN5A):c.482T>C (p.Val161Ala)	ZSCAN5A (V161A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351147	NM_001322064.3(ZSCAN5A):c.469G>T (p.Asp157Tyr)	ZSCAN5A (D40Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239429	NM_001322064.3(ZSCAN5A):c.458G>A (p.Ser153Asn)	ZSCAN5A (S153N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334965	NM_001322064.3(ZSCAN5A):c.439A>G (p.Met147Val)	ZSCAN5A (M30V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385626	NM_001322064.3(ZSCAN5A):c.436G>C (p.Glu146Gln)	ZSCAN5A (E16Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260101	NM_001322064.3(ZSCAN5A):c.430G>A (p.Asp144Asn)	ZSCAN5A (D14N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260097	NM_001322064.3(ZSCAN5A):c.371G>C (p.Arg124Thr)	ZSCAN5A (R124T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322383	NM_001322064.3(ZSCAN5A):c.371G>T (p.Arg124Ile)	ZSCAN5A (R124I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260096	NM_001322064.3(ZSCAN5A):c.286A>G (p.Met96Val)	ZSCAN5A (M96V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509238	NM_001322064.3(ZSCAN5A):c.271C>G (p.Gln91Glu)	ZSCAN5A (Q91E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199464	NM_001322064.3(ZSCAN5A):c.167C>T (p.Ser56Leu)	ZSCAN5A (S56L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263484	NM_001322064.3(ZSCAN5A):c.118C>T (p.Pro40Ser)	ZSCAN5A (P40S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364208	NM_001322064.3(ZSCAN5A):c.113T>G (p.Val38Gly)	ZSCAN5A (V38G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260098	NM_001322064.3(ZSCAN5A):c.109G>C (p.Asp37His)	ZSCAN5A (D37H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199470	NM_001322064.3(ZSCAN5A):c.85T>G (p.Ser29Ala)	ZSCAN5A (S29A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400280	NM_001322064.3(ZSCAN5A):c.51A>C (p.Arg17Ser)	ZSCAN5A (R17S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199465	NM_001322064.3(ZSCAN5A):c.31C>G (p.Leu11Val)	ZSCAN5A (L11V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 45