ClinVar for Gene (Select 220929) - ClinVar

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Links from Gene

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3195767	NM_001143768.2(ZNF438):c.823A>G (p.Thr275Ala)	ZNF438 (T226A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3195766	NM_001143768.2(ZNF438):c.812A>G (p.Asn271Ser)	ZNF438 (N261S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3195764	NM_001143768.2(ZNF438):c.707T>C (p.Leu236Pro)	ZNF438 (L236P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195763	NM_001143768.2(ZNF438):c.331A>T (p.Met111Leu)	ZNF438 (M101L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3195762	NM_001143768.2(ZNF438):c.2472T>G (p.Ser824Arg)	ZNF438 (S814R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195761	NM_001143768.2(ZNF438):c.2367G>C (p.Glu789Asp)	ZNF438 (E740D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195760	NM_001143768.2(ZNF438):c.2311T>C (p.Trp771Arg)	ZNF438 (W771R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195759	NM_001143768.2(ZNF438):c.2273A>C (p.Gln758Pro)	ZNF438 (Q709P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195758	NM_001143768.2(ZNF438):c.2233G>A (p.Gly745Arg)	ZNF438 (G696R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195757	NM_001143768.2(ZNF438):c.2086C>A (p.His696Asn)	ZNF438 (H696N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195756	NM_001143768.2(ZNF438):c.1840A>T (p.Met614Leu)	ZNF438 (M565L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195755	NM_001143768.2(ZNF438):c.1796C>T (p.Ala599Val)	ZNF438 (A589V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195754	NM_001143768.2(ZNF438):c.173G>A (p.Arg58His)	ZNF438 (R48H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195753	NM_001143768.2(ZNF438):c.1613G>A (p.Arg538Gln)	ZNF438 (R528Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195752	NM_001143768.2(ZNF438):c.1606A>T (p.Ser536Cys)	ZNF438 (S526C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195750	NM_001143768.2(ZNF438):c.1226G>A (p.Arg409Lys)	ZNF438 (R409K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3195748	NM_001143768.2(ZNF438):c.1124T>C (p.Leu375Pro)	ZNF438 (L375P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640395	NM_001143768.2(ZNF438):c.2409C>T (p.Asp803=)	ZNF438	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640394	NM_001143768.2(ZNF438):c.2442C>T (p.Val814=)	ZNF438	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2604094	NM_001143768.2(ZNF438):c.200C>G (p.Ser67Cys)	ZNF438 (S18C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602457	NM_001143768.2(ZNF438):c.1524A>T (p.Arg508Ser)	ZNF438 (R459S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2553474	NM_001143768.2(ZNF438):c.2467T>G (p.Ser823Ala)	ZNF438 (S813A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549857	NM_001143768.2(ZNF438):c.1160G>A (p.Arg387Gln)	ZNF438 (R338Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538088	NM_001143768.2(ZNF438):c.2468C>G (p.Ser823Cys)	ZNF438 (S823C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531821	NM_001143768.2(ZNF438):c.587A>G (p.Asn196Ser)	ZNF438 (N147S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524234	NM_001143768.2(ZNF438):c.1561C>A (p.His521Asn)	ZNF438 (H511N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522902	NM_001143768.2(ZNF438):c.2164G>A (p.Ala722Thr)	ZNF438 (A712T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518459	NM_001143768.2(ZNF438):c.947G>A (p.Gly316Asp)	ZNF438 (G267D +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2515054	NM_001143768.2(ZNF438):c.2120G>A (p.Arg707Lys)	ZNF438 (R697K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494335	NM_001143768.2(ZNF438):c.2350A>G (p.Met784Val)	ZNF438 (M784V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492011	NM_001143768.2(ZNF438):c.1087C>G (p.Pro363Ala)	ZNF438 (P363A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480617	NM_001143768.2(ZNF438):c.1642G>C (p.Gly548Arg)	ZNF438 (G499R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473561	NM_001143768.2(ZNF438):c.1052T>G (p.Val351Gly)	ZNF438 (V351G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468018	NM_001143768.2(ZNF438):c.1538A>G (p.Asn513Ser)	ZNF438 (N503S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426436	NC_000010.10:g.(?_30602538)_(31816192_?)dup	LYZL2, MAP3K8 +3 more	Duplication	not provided	GUncertain significance
Select item 2410686	NM_001143768.2(ZNF438):c.973G>A (p.Asp325Asn)	ZNF438 (D276N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404179	NM_001143768.2(ZNF438):c.487C>G (p.Pro163Ala)	ZNF438 (P153A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397344	NM_001143768.2(ZNF438):c.2050C>G (p.Pro684Ala)	ZNF438 (P635A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383116	NM_001143768.2(ZNF438):c.671C>T (p.Thr224Ile)	ZNF438 (T224I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381163	NM_001143768.2(ZNF438):c.1381C>T (p.Leu461Phe)	ZNF438 (L412F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378618	NM_001143768.2(ZNF438):c.1159C>T (p.Arg387Trp)	ZNF438 (R387W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356183	NM_001143768.2(ZNF438):c.2360G>A (p.Arg787Gln)	ZNF438 (R777Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2345019	NM_001143768.2(ZNF438):c.1661T>C (p.Met554Thr)	ZNF438 (M544T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338568	NM_001143768.2(ZNF438):c.1162A>G (p.Lys388Glu)	ZNF438 (K339E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329615	NM_001143768.2(ZNF438):c.424C>T (p.Pro142Ser)	ZNF438 (P93S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2326677	NM_001143768.2(ZNF438):c.739A>G (p.Thr247Ala)	ZNF438 (T198A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326358	NM_001143768.2(ZNF438):c.74G>A (p.Arg25Lys)	ZNF438 (R25K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2300572	NM_001143768.2(ZNF438):c.1283G>C (p.Gly428Ala)	ZNF438 (G418A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289532	NM_001143768.2(ZNF438):c.79G>A (p.Gly27Ser)	ZNF438 (G17S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2284738	NM_001143768.2(ZNF438):c.212A>G (p.Lys71Arg)	ZNF438 (K61R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283193	NM_001143768.2(ZNF438):c.2288C>G (p.Pro763Arg)	ZNF438 (P763R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282502	NM_001143768.2(ZNF438):c.649C>T (p.Pro217Ser)	ZNF438 (P207S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279819	NM_001143768.2(ZNF438):c.307G>A (p.Ala103Thr)	ZNF438 (A103T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249774	NM_001143768.2(ZNF438):c.2236C>A (p.Pro746Thr)	ZNF438 (P736T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249522	NM_001143768.2(ZNF438):c.1883A>G (p.Lys628Arg)	ZNF438 (K579R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223195	NM_001143768.2(ZNF438):c.1685G>A (p.Arg562His)	ZNF438 (R562H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217686	NM_001143768.2(ZNF438):c.1417T>G (p.Ser473Ala)	ZNF438 (S463A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211137	NM_001143768.2(ZNF438):c.1604A>C (p.Tyr535Ser)	ZNF438 (Y525S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206890	NM_001143768.2(ZNF438):c.329G>C (p.Arg110Thr)	ZNF438 (R100T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206289	NM_001143768.2(ZNF438):c.2359C>T (p.Arg787Trp)	ZNF438 (R787W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1328108	GRCh37/hg19 10p11.23-11.22(chr10:30624523-33688350)x1	ARHGAP12, CCDC7 +9 more	Copy number loss	not provided	GPathogenic
Select item 815327	GRCh37/hg19 10p11.23-11.22(chr10:30138613-31334200)x3	MTPAP, MAP3K8 +3 more	Copy number gain	not provided	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	AGAP4, AGAP9 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic

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Links from Gene

Items: 72