ClinVar for Gene (Select 10401) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306383	NM_006099.3(PIAS3):c.934C>T (p.Pro312Ser)	PIAS3 (P312S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306382	NM_006099.3(PIAS3):c.1217G>A (p.Cys406Tyr)	PIAS3 (C406Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306381	NM_006099.3(PIAS3):c.1442G>A (p.Ser481Asn)	LOC126805850, PIAS3 (S481N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306380	NM_006099.3(PIAS3):c.331C>T (p.Arg111Cys)	PIAS3 (R111C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306379	NM_006099.3(PIAS3):c.671G>T (p.Gly224Val)	PIAS3 (G224V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306378	NM_006099.3(PIAS3):c.200G>A (p.Arg67Gln)	PIAS3 (R67Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306377	NM_006099.3(PIAS3):c.1259C>T (p.Pro420Leu)	PIAS3 (P420L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306376	NM_006099.3(PIAS3):c.625C>T (p.Pro209Ser)	PIAS3 (P209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242277	GRCh37/hg19 1q21.1(chr1:145382834-145830864)x1	ANKRD34A, ANKRD35 +14 more	Copy number loss	not provided	GPathogenic
Select item 3242276	GRCh37/hg19 1q21.1(chr1:145382713-145831179)x3	ANKRD34A, ANKRD35 +14 more	Copy number gain	not provided	GUncertain significance
Select item 3212571	NM_006099.3(PIAS3):c.772A>G (p.Ile258Val)	PIAS3 (I258V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212570	NM_006099.3(PIAS3):c.734C>T (p.Thr245Ile)	PIAS3 (T245I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212569	NM_006099.3(PIAS3):c.1799G>C (p.Gly600Ala)	PIAS3 (G600A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212568	NM_006099.3(PIAS3):c.1774C>T (p.Arg592Cys)	PIAS3 (R592C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212567	NM_006099.3(PIAS3):c.1727C>A (p.Thr576Lys)	PIAS3 (T576K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212566	NM_006099.3(PIAS3):c.1718T>C (p.Leu573Pro)	PIAS3 (L573P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212565	NM_006099.3(PIAS3):c.1465C>T (p.His489Tyr)	LOC126805850, PIAS3 (H489Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212564	NM_006099.3(PIAS3):c.1355T>C (p.Ile452Thr)	LOC126805850, PIAS3 (I452T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212563	NM_006099.3(PIAS3):c.1333G>A (p.Val445Ile)	PIAS3 (V445I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212562	NM_006099.3(PIAS3):c.1222A>G (p.Met408Val)	PIAS3 (M408V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148893	GRCh37/hg19 1q21.1-21.2(chr1:144055163-148789835)x3	ACP6, ANKRD34A +35 more	Copy number gain	See cases	GPathogenic
Select item 3148875	GRCh37/hg19 1q21.1-21.2(chr1:144055163-149664300)x3	ACP6, ANKRD34A +39 more	Copy number gain	See cases	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062018	Single allele	ANKRD34A, ANKRD35 +14 more	Deletion	not provided	GPathogenic
Select item 3024561	GRCh37/hg19 1q21.1-21.2(chr1:145421717-148193211)	ACP6, ANKRD34A +23 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 2685824	GRCh37/hg19 1q21.1(chr1:145287320-145764679)x3	ANKRD34A, ANKRD35 +15 more	Copy number gain	not provided	GUncertain significance
Select item 2685621	GRCh37/hg19 1q21.1(chr1:145382124-145803834)x1	ANKRD34A, ANKRD35 +14 more	Copy number loss	not provided	GUncertain significance
Select item 2685610	GRCh37/hg19 1q21.1(chr1:145368365-145829474)x1	ANKRD34A, ANKRD35 +15 more	Copy number loss	not provided	GUncertain significance
Select item 2685599	GRCh37/hg19 1q21.1-21.2(chr1:145311525-147509544)x1	ACP6, ANKRD34A +25 more	Copy number loss	not provided	GPathogenic
Select item 2672392	GRCh37/hg19 1q21.1(chr1:144828541-145826929)x3	ANKRD34A, ANKRD35 +18 more	Copy number gain	not provided	GUncertain significance
Select item 2639113	NM_006099.3(PIAS3):c.1036C>T (p.Leu346=)	PIAS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639112	NM_006099.3(PIAS3):c.105C>T (p.His35=)	PIAS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617701	NM_006099.3(PIAS3):c.1625A>G (p.Tyr542Cys)	LOC126805850, PIAS3 (Y542C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600361	NM_006099.3(PIAS3):c.1243T>C (p.Ser415Pro)	PIAS3 (S415P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590100	NM_006099.3(PIAS3):c.83G>A (p.Arg28Gln)	PIAS3 (R28Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2580306	GRCh37/hg19 1q21.1(chr1:145365275-145826979)x3	ANKRD34A, ANKRD35 +15 more	Copy number gain	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 2579208	GRCh38/hg38 1q21.1(chr1:145822587-146064587)x1	ANKRD34A, ANKRD35 +47 more	Copy number loss	Radial aplasia-thrombocytopenia syndrome	GPathogenic
Select item 2574675	GRCh37/hg19 1q21.1(chr1:145382123-145792051)	ANKRD34A, ANKRD35 +14 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 2531864	NM_006099.3(PIAS3):c.737C>T (p.Pro246Leu)	PIAS3 (P246L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499625	GRCh38/hg38 1q21.1(chr1:145635432-146019857)	ANKRD34A, ANKRD35 +42 more	Copy number loss	See cases	GUncertain significance
Select item 2462756	NM_006099.3(PIAS3):c.1870A>G (p.Ile624Val)	PIAS3 (I624V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445217	Single allele	RBM8A, RNF115 +14 more	Deletion	See cases	GPathogenic
Select item 2407594	NM_006099.3(PIAS3):c.514A>G (p.Ile172Val)	PIAS3 (I172V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401330	NM_006099.3(PIAS3):c.544G>A (p.Ala182Thr)	PIAS3 (A182T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400111	NM_006099.3(PIAS3):c.1757C>T (p.Pro586Leu)	PIAS3 (P586L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399437	NM_006099.3(PIAS3):c.1796C>G (p.Pro599Arg)	PIAS3 (P599R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380928	NM_006099.3(PIAS3):c.1666C>G (p.Leu556Val)	PIAS3 (L556V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366857	NM_006099.3(PIAS3):c.700G>A (p.Glu234Lys)	PIAS3 (E234K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354831	NM_006099.3(PIAS3):c.668C>T (p.Pro223Leu)	PIAS3 (P223L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323442	NM_006099.3(PIAS3):c.773T>C (p.Ile258Thr)	PIAS3 (I258T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318853	NM_006099.3(PIAS3):c.1319A>T (p.Glu440Val)	PIAS3 (E440V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313371	NM_006099.3(PIAS3):c.1862G>A (p.Arg621Gln)	PIAS3 (R621Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308987	NM_006099.3(PIAS3):c.343A>G (p.Met115Val)	PIAS3 (M115V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282418	NM_006099.3(PIAS3):c.1727C>T (p.Thr576Met)	PIAS3 (T576M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2236595	NM_006099.3(PIAS3):c.61G>C (p.Val21Leu)	PIAS3 (V21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879126	GRCh37/hg19 1q21.1-21.2(chr1:145365287-147416212)x1	ACP6, ANKRD34A +25 more	Copy number loss	not provided	GPathogenic
Select item 1809273	GRCh37/hg19 1q21.1(chr1:144823070-146011861)x1	ANKRD34A, ANKRD35 +18 more	Copy number loss	not provided	GUncertain significance
Select item 1808743	GRCh37/hg19 1q21.1-21.2(chr1:145074728-148832359)x1	ACP6, ANKRD34A +32 more	Copy number loss	not provided	GPathogenic
Select item 1807758	GRCh37/hg19 1q21.1(chr1:145083851-145986573)x1	ANKRD34A, ANKRD35 +16 more	Copy number loss	not provided	GPathogenic
Select item 1711161	GRCh37/hg19 1q21.1(chr1:145387023-145764679)x3	ANKRD34A, ANKRD35 +14 more	Copy number gain	See cases	GPathogenic
Select item 1708199	GRCh37/hg19 1q21.1-21.2(chr1:145157447-148016122)x1	ACP6, ANKRD34A +26 more	Copy number loss	See cases	GPathogenic
Select item 1704315	GRCh37/hg19 1q21.1(chr1:144893419-145803834)x1	ANKRD34A, ANKRD35 +17 more	Copy number loss	Dysmorphic features	GUncertain significance
Select item 1459111	NC_000001.10:g.(?_145414782)_(145610584_?)del	ANKRD34A, ANKRD35 +10 more	Deletion	Radial aplasia-thrombocytopenia syndrome	GPathogenic
Select item 1341243	GRCh37/hg19 1q21.1(chr1:145372549-145829474)x1	ANKRD34A, ANKRD35 +14 more	Copy number loss	not provided	GUncertain significance
Select item 1341102	GRCh37/hg19 1q21.1(chr1:145369199-145886340)x1	RNF115, TXNIP +14 more	Copy number loss	not provided	GUncertain significance
Select item 1333003	GRCh37/hg19 1q21.1(chr1:145038814-145747463)	ANKRD34A, ANKRD35 +16 more	Copy number loss	Radial aplasia-thrombocytopenia syndrome	GPathogenic
Select item 1331349	NC_000001.10:g.145382933_145831892del	ANKRD34A, ANKRD35 +14 more	Deletion	not provided	GLikely pathogenic
Select item 1330212	GRCh37/hg19 1q21.1(chr1:145324298-146018577)x3	ANKRD34A, ANKRD35 +15 more	Copy number gain	Microcephaly +6 more	GUncertain significance
Select item 1172829	GRCh37/hg19 1q21.1(chr1:145382601-145616000)	ANKRD34A, ANKRD35 +11 more	Copy number loss	Cerebral palsy	Grisk factor
Select item 1064148	NC_000001.10:g.(?_145414782)_(145610584_?)dup	ANKRD35, HJV +10 more	Duplication	Radial aplasia-thrombocytopenia syndrome	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ANKRD45, BRINP3 +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 983176	GRCh37/hg19 1q21.1(chr1:145347631-145833118)x1	ANKRD34A, ANKRD35 +15 more	Copy number loss	See cases	GPathogenic
Select item 980948	GRCh37/hg19 1q21.1-21.2(chr1:144849457-147819815)x3	ACP6, ANKRD34A +27 more	Copy number gain	not provided	GPathogenic
Select item 980942	GRCh37/hg19 1q21.1-21.2(chr1:144887445-148801960)x1	ACP6, ANKRD34A +31 more	Copy number loss	not provided	GPathogenic
Select item 980941	GRCh37/hg19 1q21.1(chr1:145288338-146011861)x1	ANKRD34A, ANKRD35 +15 more	Copy number loss	not provided	GPathogenic
Select item 973088	GRCh37/hg19 1q21.1(chr1:145291030-145735385)x3	ANKRD34A, ANKRD35 +14 more	Copy number gain	not provided	Gnot provided
Select item 829799	NM_006099.3(PIAS3):c.499C>T (p.Gln167Ter)	PIAS3 (Q167*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 814123	GRCh37/hg19 1q21.1-21.2(chr1:145053968-148823133)x3	ACP6, ANKRD34A +32 more	Copy number gain	not provided	GPathogenic
Select item 814122	GRCh37/hg19 1q21.1-21.2(chr1:144884331-148665189)x1	ACP6, ANKRD34A +31 more	Copy number loss	not provided	GPathogenic
Select item 814121	GRCh37/hg19 1q21.1-21.2(chr1:144842544-147832190)x1	ACP6, ANKRD34A +27 more	Copy number loss	not provided	GPathogenic
Select item 814120	GRCh37/hg19 1q21.1-21.2(chr1:143940435-147823872)x3	ACP6, ANKRD34A +31 more	Copy number gain	not provided	GPathogenic
Select item 773151	NM_006099.3(PIAS3):c.1783A>C (p.Ser595Arg)	PIAS3 (S595R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 756016	NM_006099.3(PIAS3):c.1583-8C>T	LOC126805850, PIAS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 728990	NM_006099.3(PIAS3):c.552T>C (p.Cys184=)	PIAS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 726837	NM_006099.3(PIAS3):c.1335C>G (p.Val445=)	PIAS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 692221	NC_000001.11:g.145601946_148597425del	GPR89B, LOC129931326 +123 more	Deletion	Radial aplasia-thrombocytopenia syndrome	GLikely pathogenic
Select item 689327	GRCh37/hg19 1q21.1(chr1:145376197-145792148)x3	ANKRD34A, ANKRD35 +14 more	Copy number gain	not provided	GUncertain significance
Select item 689214	GRCh37/hg19 1q21.1(chr1:145369199-145770627)x3	ANKRD34A, ANKRD35 +14 more	Copy number gain	not provided	GUncertain significance
Select item 689177	GRCh37/hg19 1q21.1(chr1:145372549-145770627)x3	ANKRD34A, ANKRD35 +14 more	Copy number gain	not provided	GUncertain significance
Select item 689165	GRCh37/hg19 1q21.1(chr1:145480145-145810881)x3	ANKRD35, CD160 +10 more	Copy number gain	not provided	GUncertain significance
Select item 689004	GRCh37/hg19 1q21.1(chr1:145311524-145809279)x1	ANKRD34A, ANKRD35 +15 more	Copy number loss	not provided	GUncertain significance
Select item 688796	GRCh37/hg19 1q21.1(chr1:145368364-145809279)x3	ANKRD34A, ANKRD35 +15 more	Copy number gain	not provided	GUncertain significance
Select item 688523	GRCh37/hg19 1q21.1-21.2(chr1:143940435-147845170)x4	ACP6, ANKRD34A +31 more	Copy number gain	not provided	GPathogenic
Select item 688182	GRCh37/hg19 1q21.1(chr1:144950620-145764679)x3	ANKRD34A, ANKRD35 +17 more	Copy number gain	not provided	GUncertain significance
Select item 687952	GRCh37/hg19 1q21.1(chr1:145382123-145764679)x3	ANKRD34A, ANKRD35 +14 more	Copy number gain	not provided	GUncertain significance
Select item 687903	GRCh37/hg19 1q21.1(chr1:144884265-145764679)x1	ANKRD34A, ANKRD35 +17 more	Copy number loss	not provided	GUncertain significance
Select item 687888	GRCh37/hg19 1q21.1(chr1:145376197-145764679)x1	ANKRD34A, ANKRD35 +14 more	Copy number loss	not provided	GUncertain significance
Select item 687790	GRCh37/hg19 1q21.1(chr1:145382123-145792148)x3	ANKRD34A, ANKRD35 +14 more	Copy number gain	not provided	GUncertain significance
Select item 687620	GRCh37/hg19 1q21.1-21.2(chr1:144823069-148839976)x3	ACP6, ANKRD34A +33 more	Copy number gain	not provided	GPathogenic

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