ClinVar for Gene (Select 200035) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3301386	NM_001012758.3(NUDT17):c.65G>C (p.Ser22Thr)	LOC129931331, NUDT17 (S22T)	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 3202791	NM_001012758.3(NUDT17):c.967A>G (p.Asn323Asp)	NUDT17 (N323D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202790	NM_001012758.3(NUDT17):c.953A>G (p.Asp318Gly)	NUDT17 (D318G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202789	NM_001012758.3(NUDT17):c.812T>C (p.Met271Thr)	NUDT17 (M271T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3202788	NM_001012758.3(NUDT17):c.797G>A (p.Arg266Gln)	NUDT17 (R266Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202787	NM_001012758.3(NUDT17):c.685A>G (p.Thr229Ala)	NUDT17 (T229A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202786	NM_001012758.3(NUDT17):c.4G>A (p.Ala2Thr)	LOC129931331, NUDT17 (A2T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202785	NM_001012758.3(NUDT17):c.338G>C (p.Arg113Pro)	LOC129931332, NUDT17 (R113P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202784	NM_001012758.3(NUDT17):c.23T>G (p.Leu8Arg)	LOC129931331, NUDT17 (L8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202783	NM_001012758.3(NUDT17):c.197C>A (p.Pro66His)	NUDT17 (P66H)	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 2622057	NM_001012758.3(NUDT17):c.734C>T (p.Ala245Val)	NUDT17 (A245V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606246	NM_001012758.3(NUDT17):c.242C>T (p.Pro81Leu)	LOC129931332, NUDT17 (P81L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601412	NM_001012758.3(NUDT17):c.629C>T (p.Ala210Val)	NUDT17 (A210V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599265	NM_001012758.3(NUDT17):c.350T>G (p.Val117Gly)	LOC129931332, NUDT17 (V117G)	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 2530971	NM_001012758.3(NUDT17):c.770T>C (p.Leu257Pro)	NUDT17 (L257P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526870	NM_001012758.3(NUDT17):c.100G>C (p.Gly34Arg)	LOC129931331, NUDT17 (G34R)	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 2495180	NM_001012758.3(NUDT17):c.103A>C (p.Thr35Pro)	LOC129931331, NUDT17 (T35P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2445217	Single allele	RBM8A, RNF115 +14 more	Deletion	See cases	GPathogenic
Select item 2408137	NM_001012758.3(NUDT17):c.272T>C (p.Val91Ala)	LOC129931332, NUDT17 (V91A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374552	NM_001012758.3(NUDT17):c.778C>T (p.His260Tyr)	NUDT17 (H260Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257309	NM_001012758.3(NUDT17):c.64A>T (p.Ser22Cys)	LOC129931331, NUDT17 (S22C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243737	NM_001012758.3(NUDT17):c.760G>A (p.Ala254Thr)	NUDT17 (A254T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226797	NM_001012758.3(NUDT17):c.5C>G (p.Ala2Gly)	LOC129931331, NUDT17 (A2G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212052	NM_001012758.3(NUDT17):c.697G>A (p.Gly233Arg)	NUDT17 (G233R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2208050	NM_001012758.3(NUDT17):c.788C>A (p.Thr263Asn)	NUDT17 (T263N)	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	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 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
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 635924	Single allele	ANKRD34A, ANKRD35 +14 more	Duplication	Growth abnormality	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 565156	GRCh37/hg19 1q21.1(chr1:145398177-145809279)x1	ANKRD34A, ANKRD35 +14 more	Copy number loss	not provided	GUncertain significance
Select item 565155	GRCh37/hg19 1q21.1(chr1:145387023-145928000)x1	ANKRD34A, ANKRD35 +14 more	Copy number loss	not provided	GUncertain significance
Select item 565154	GRCh37/hg19 1q21.1(chr1:145376224-145770626)x3	ANKRD34A, ANKRD35 +14 more	Copy number gain	not provided	GLikely benign
Select item 565153	GRCh37/hg19 1q21.1-21.2(chr1:145376052-147819815)x3	ACP6, ANKRD34A +24 more	Copy number gain	not provided	GPathogenic

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