ClinVar for Gene (Select 10628) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330389	NM_006472.6(TXNIP):c.878C>T (p.Pro293Leu)	TXNIP (P238L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330388	NM_006472.6(TXNIP):c.842G>A (p.Ser281Asn)	TXNIP (S281N +1 more)	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 3185201	NM_006472.6(TXNIP):c.832A>G (p.Ile278Val)	TXNIP (I223V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185200	NM_006472.6(TXNIP):c.808C>T (p.Leu270Phe)	TXNIP (L215F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185199	NM_006472.6(TXNIP):c.730T>C (p.Ser244Pro)	LOC129931346, TXNIP (S189P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185197	NM_006472.6(TXNIP):c.475C>T (p.Pro159Ser)	TXNIP (P159S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185196	NM_006472.6(TXNIP):c.394C>T (p.Pro132Ser)	TXNIP (P77S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185195	NM_006472.6(TXNIP):c.365A>G (p.Asp122Gly)	TXNIP (D67G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185194	NM_006472.6(TXNIP):c.220G>A (p.Asp74Asn)	TXNIP (D74N)	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 2612139	NM_006472.6(TXNIP):c.1085C>T (p.Pro362Leu)	TXNIP (P362L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609511	NM_006472.6(TXNIP):c.812G>A (p.Arg271Gln)	TXNIP (R271Q +1 more)	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 2548223	NM_006472.6(TXNIP):c.841A>G (p.Ser281Gly)	TXNIP (S226G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519845	NM_006472.6(TXNIP):c.505T>A (p.Ser169Thr)	TXNIP (S169T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509823	NM_006472.6(TXNIP):c.395C>G (p.Pro132Arg)	TXNIP (P77R +1 more)	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 2496577	NM_006472.6(TXNIP):c.529C>T (p.Arg177Trp)	TXNIP (R177W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487317	NM_006472.6(TXNIP):c.1127C>T (p.Pro376Leu)	TXNIP (P321L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445217	Single allele	RBM8A, RNF115 +14 more	Deletion	See cases	GPathogenic
Select item 2400129	NM_006472.6(TXNIP):c.652C>T (p.Arg218Cys)	TXNIP (R163C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391092	NM_006472.6(TXNIP):c.391C>T (p.Arg131Cys)	TXNIP (R76C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363444	NM_006472.6(TXNIP):c.89G>A (p.Arg30Gln)	TXNIP (R30Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335060	NM_006472.6(TXNIP):c.1144G>A (p.Asp382Asn)	TXNIP (D327N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325046	NM_006472.6(TXNIP):c.658A>T (p.Thr220Ser)	TXNIP (T165S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291088	NM_006472.6(TXNIP):c.399C>G (p.Ser133Arg)	TXNIP (S78R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286122	NM_006472.6(TXNIP):c.155C>G (p.Ala52Gly)	TXNIP (A52G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879126	GRCh37/hg19 1q21.1-21.2(chr1:145365287-147416212)x1	ANKRD35, BCL9 +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 1070874	NC_000001.10:g.(?_145414782)_(145509211_?)del	ANKRD34A, HJV +4 more	Deletion	not provided	GPathogenic
Select item 1064148	NC_000001.10:g.(?_145414782)_(145610584_?)dup	LIX1L, NUDT17 +10 more	Duplication	Radial aplasia-thrombocytopenia syndrome	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +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 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 777922	NM_006472.6(TXNIP):c.1078G>A (p.Asp360Asn)	TXNIP (D305N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775596	NM_006472.6(TXNIP):c.690G>T (p.Leu230=)	TXNIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 726271	NM_006472.6(TXNIP):c.1028G>A (p.Arg343Gln)	TXNIP (R288Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 726040	NM_006472.6(TXNIP):c.1008T>C (p.Asp336=)	TXNIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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
Select item 687583	GRCh37/hg19 1q21.1(chr1:145398236-145792148)x3	ANKRD34A, ANKRD35 +14 more	Copy number gain	not provided	GUncertain significance
Select item 687055	GRCh37/hg19 1q21.1(chr1:145225122-145770627)x3	ANKRD34A, ANKRD35 +16 more	Copy number gain	not provided	GUncertain significance
Select item 686843	GRCh37/hg19 1q21.1(chr1:145375589-145600717)x3	ANKRD34A, ANKRD35 +10 more	Copy number gain	not provided	GUncertain significance
Select item 686647	GRCh37/hg19 1q21.1(chr1:145311524-145769109)x3	ANKRD34A, ANKRD35 +15 more	Copy number gain	not provided	GUncertain significance
Select item 686423	GRCh37/hg19 1q21.1(chr1:145382123-145747910)x3	ANKRD34A, ANKRD35 +13 more	Copy number gain	not provided	GUncertain significance
Select item 686148	GRCh37/hg19 1q21.1(chr1:145375589-145600717)x3	ANKRD34A, ANKRD35 +10 more	Copy number gain	not provided	GUncertain significance
Select item 686126	GRCh37/hg19 1q21.1(chr1:145375589-145768023)x3	ANKRD34A, ANKRD35 +14 more	Copy number gain	not provided	GUncertain significance
Select item 686103	GRCh37/hg19 1q21.1(chr1:145382123-145899214)x3	ANKRD34A, ANKRD35 +14 more	Copy number gain	not provided	GUncertain significance
Select item 685637	GRCh37/hg19 1q21.1(chr1:144861071-145792148)x3	ANKRD34A, ANKRD35 +17 more	Copy number gain	not provided	GUncertain significance
Select item 685341	GRCh37/hg19 1q21.1(chr1:145311524-145809279)x1	ANKRD34A, ANKRD35 +15 more	Copy number loss	not provided	GUncertain significance
Select item 625541	GRCh37/hg19 1q21.1(chr1:145395604-145704146)	ANKRD34A, ANKRD35 +12 more	Copy number loss	Radial aplasia-thrombocytopenia syndrome	GLikely pathogenic
Select item 625537	GRCh37/hg19 1q21.1-21.2(chr1:145103956-147220326)	ACP6, ANKRD34A +23 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 625536	GRCh37/hg19 1q21.1-21.2(chr1:145015937-147416122)	ACP6, ANKRD34A +27 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 585236	GRCh37/hg19 1q21.1(chr1:145415156-145799615)x1	POLR3C, POLR3GL +14 more	Copy number loss	Radial aplasia-thrombocytopenia syndrome	Gnot provided
Select item 583737	NC_000001.10:g.(?_145414782)_(145474819_?)dup	ANKRD34A, HJV +2 more	Duplication	Hemochromatosis type 2A	GUncertain significance
Select item 583553	NC_000001.10:g.(?_145414782)_(145474819_?)del	HJV, POLR3GL +2 more	Deletion	Hemochromatosis type 2A	GPathogenic

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