"Ambry Genetics"[submitter] AND "ZNF783"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3198364	NM_001195220.2(ZNF783):c.7G>A (p.Glu3Lys)	LOC129999553, ZNF783 (E3K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337280	NM_001195220.2(ZNF783):c.14C>A (p.Ala5Glu)	LOC129999553, ZNF783 (A5E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370572	NM_001195220.2(ZNF783):c.80A>G (p.Gln27Arg)	ZNF783 (Q27R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373582	NM_001195220.2(ZNF783):c.115A>G (p.Thr39Ala)	ZNF783 (T39A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622191	NM_001195220.2(ZNF783):c.132G>C (p.Trp44Cys)	ZNF783 (W44C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514946	NM_001195220.2(ZNF783):c.134C>T (p.Thr45Met)	ZNF783 (T45M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541567	NM_001195220.2(ZNF783):c.145G>A (p.Ala49Thr)	ZNF783 (A49T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285425	NM_001195220.2(ZNF783):c.145G>T (p.Ala49Ser)	ZNF783 (A49S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298093	NM_001195220.2(ZNF783):c.165G>C (p.Lys55Asn)	ZNF783 (K55N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508593	NM_001195220.2(ZNF783):c.188G>A (p.Arg63His)	ZNF783 (R63H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568743	NM_001195220.2(ZNF783):c.265G>A (p.Gly89Arg)	ZNF783 (G89R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375320	NM_001195220.2(ZNF783):c.314A>C (p.Glu105Ala)	ZNF783 (E105A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561436	NM_001195220.2(ZNF783):c.334C>T (p.Arg112Trp)	ZNF783 (R112W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198360	NM_001195220.2(ZNF783):c.335G>A (p.Arg112Gln)	ZNF783 (R112Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338182	NM_001195220.2(ZNF783):c.343A>G (p.Asn115Asp)	ZNF783 (N115D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515904	NM_001195220.2(ZNF783):c.359T>C (p.Leu120Pro)	ZNF783 (L120P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198361	NM_001195220.2(ZNF783):c.378G>T (p.Trp126Cys)	ZNF783 (W126C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518405	NM_001195220.2(ZNF783):c.385C>T (p.Arg129Trp)	ZNF783 (R129W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355904	NM_001195220.2(ZNF783):c.386G>A (p.Arg129Gln)	ZNF783 (R129Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372175	NM_001195220.2(ZNF783):c.395C>T (p.Pro132Leu)	ZNF783 (P132L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486191	NM_001195220.2(ZNF783):c.406G>T (p.Gly136Trp)	ZNF783 (G136W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198362	NM_001195220.2(ZNF783):c.448G>A (p.Val150Met)	ZNF783 (V150M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491174	NM_001195220.2(ZNF783):c.556A>G (p.Ile186Val)	ZNF783 (I186V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526803	NM_001195220.2(ZNF783):c.578C>G (p.Thr193Ser)	ZNF783 (T193S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588747	NM_001195220.2(ZNF783):c.580C>T (p.Arg194Trp)	ZNF783 (R194W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390515	NM_001195220.2(ZNF783):c.581G>A (p.Arg194Gln)	ZNF783 (R194Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198363	NM_001195220.2(ZNF783):c.613C>T (p.Arg205Trp)	ZNF783 (R205W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223716	NM_001195220.2(ZNF783):c.652C>A (p.Arg218Ser)	ZNF783 (R218S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347403	NM_001195220.2(ZNF783):c.718G>A (p.Ala240Thr)	ZNF783 (A240T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289246	NM_001195220.2(ZNF783):c.756G>T (p.Gln252His)	ZNF783 (Q252H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2329760	NM_001195220.2(ZNF783):c.758A>G (p.Gln253Arg)	ZNF783 (Q253R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390400	NM_001195220.2(ZNF783):c.778G>C (p.Val260Leu)	ZNF783 (V260L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198365	NM_001195220.2(ZNF783):c.844G>A (p.Glu282Lys)	ZNF783 (E282K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380140	NM_001195220.2(ZNF783):c.851C>T (p.Thr284Met)	ZNF783 (T284M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3198366	NM_001195220.2(ZNF783):c.908G>A (p.Arg303Gln)	ZNF783 (R303Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480320	NM_001195220.2(ZNF783):c.917G>A (p.Arg306Lys)	ZNF783 (R306K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198367	NM_001195220.2(ZNF783):c.941G>A (p.Arg314His)	ZNF783 (R314H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259788	NM_001195220.2(ZNF783):c.956G>A (p.Gly319Asp)	ZNF783 (G319D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252227	NM_001195220.2(ZNF783):c.962C>T (p.Pro321Leu)	ZNF783 (P321L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326800	NM_001195220.2(ZNF783):c.970C>T (p.Arg324Trp)	ZNF783 (R324W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618605	NM_001195220.2(ZNF783):c.1027C>T (p.Arg343Cys)	ZNF783 (R343C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356461	NM_001195220.2(ZNF783):c.1028G>A (p.Arg343His)	ZNF783 (R343H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198353	NM_001195220.2(ZNF783):c.1034G>A (p.Arg345Gln)	ZNF783 (R345Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198354	NM_001195220.2(ZNF783):c.1039C>T (p.Arg347Trp)	ZNF783 (R347W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198355	NM_001195220.2(ZNF783):c.1040G>A (p.Arg347Gln)	ZNF783 (R347Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288897	NM_001195220.2(ZNF783):c.1048C>T (p.Pro350Ser)	ZNF783 (P350S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198356	NM_001195220.2(ZNF783):c.1063G>A (p.Gly355Arg)	ZNF783 (G355R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303055	NM_001195220.2(ZNF783):c.1072T>C (p.Phe358Leu)	ZNF783 (F358L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198357	NM_001195220.2(ZNF783):c.1108A>C (p.Thr370Pro)	ZNF783 (T370P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198358	NM_001195220.2(ZNF783):c.1130A>G (p.Gln377Arg)	ZNF783 (Q377R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2333218	NM_001195220.2(ZNF783):c.1136C>T (p.Ala379Val)	ZNF783 (A379V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492828	NM_001195220.2(ZNF783):c.1217T>C (p.Ile406Thr)	ZNF783 (I406T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621105	NM_001195220.2(ZNF783):c.1249C>T (p.Arg417Cys)	ZNF783 (R417C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534799	NM_001195220.2(ZNF783):c.1303A>C (p.Met435Leu)	ZNF783 (M435L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534800	NM_001195220.2(ZNF783):c.1384G>A (p.Gly462Ser)	ZNF783 (G462S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2342084	NM_001195220.2(ZNF783):c.1415G>T (p.Gly472Val)	ZNF783 (G472V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341443	NM_001195220.2(ZNF783):c.1502G>A (p.Arg501Gln)	ZNF783 (R501Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288475	NM_001195220.2(ZNF783):c.1537A>G (p.Met513Val)	ZNF783 (M513V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198359	NM_001195220.2(ZNF783):c.1592G>T (p.Arg531Leu)	ZNF783 (R531L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233763	NM_001195220.2(ZNF783):c.1592G>A (p.Arg531His)	ZNF783 (R531H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302855	NM_001195220.2(ZNF783):c.1604T>A (p.Leu535Gln)	ZNF783 (L535Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226649	NM_001195220.2(ZNF783):c.1613C>T (p.Pro538Leu)	ZNF783 (P538L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249873	NM_001195220.2(ZNF783):c.1624C>G (p.Arg542Gly)	ZNF783 (R542G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487695	NM_001195220.2(ZNF783):c.1631A>G (p.Glu544Gly)	ZNF783 (E544G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 64