ClinVar for Gene (Select 27246) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314688	NM_014455.4(RNF115):c.46G>A (p.Ala16Thr)	RNF115 (A16T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314687	NM_014455.4(RNF115):c.569C>T (p.Thr190Ile)	RNF115 (T190I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314685	NM_014455.4(RNF115):c.671T>C (p.Met224Thr)	RNF115 (M224T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3314684	NM_014455.4(RNF115):c.904T>C (p.Trp302Arg)	RNF115 (W302R)	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 3154969	NM_014455.4(RNF115):c.85G>A (p.Val29Ile)	RNF115 (V29I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154967	NM_014455.4(RNF115):c.770C>T (p.Pro257Leu)	RNF115 (P257L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154966	NM_014455.4(RNF115):c.496T>G (p.Ser166Ala)	RNF115 (S166A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154965	NM_014455.4(RNF115):c.371G>T (p.Gly124Val)	RNF115 (G124V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154964	NM_014455.4(RNF115):c.187A>T (p.Ile63Leu)	RNF115 (I63L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154963	NM_014455.4(RNF115):c.109A>C (p.Ile37Leu)	RNF115 (I37L)	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 2685632	GRCh37/hg19 1q21.1(chr1:145622531-145927662)x1	CD160, GPR89A +2 more	Copy number loss	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 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 2578607	GRCh37/hg19 1q21.1(chr1:145646115-145826929)x3	CD160, GPR89A +2 more	Copy number gain	not provided	GUncertain significance
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 2569980	NM_014455.4(RNF115):c.505G>A (p.Gly169Arg)	RNF115 (G169R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568631	NM_014455.4(RNF115):c.401G>A (p.Arg134His)	RNF115 (R134H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552115	NM_014455.4(RNF115):c.895C>T (p.His299Tyr)	RNF115 (H299Y)	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 2477013	NM_014455.4(RNF115):c.80G>A (p.Gly27Asp)	RNF115 (G27D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445217	Single allele	RBM8A, RNF115 +14 more	Deletion	See cases	GPathogenic
Select item 2373251	NM_014455.4(RNF115):c.826G>A (p.Asp276Asn)	RNF115 (D276N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361107	NM_014455.4(RNF115):c.518C>T (p.Ser173Phe)	RNF115 (S173F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331630	NM_014455.4(RNF115):c.673G>C (p.Gly225Arg)	RNF115 (G225R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321545	NM_014455.4(RNF115):c.421A>G (p.Ile141Val)	RNF115 (I141V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318939	NM_014455.4(RNF115):c.671T>A (p.Met224Lys)	RNF115 (M224K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287995	NM_014455.4(RNF115):c.733C>G (p.Pro245Ala)	RNF115 (P245A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255647	NM_014455.4(RNF115):c.418G>A (p.Ala140Thr)	RNF115 (A140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209767	NM_014455.4(RNF115):c.290A>G (p.Asp97Gly)	RNF115 (D97G)	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 1809053	GRCh37/hg19 1q21.1(chr1:145622531-145888926)x1	CD160, GPR89A +2 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 1808499	GRCh37/hg19 1q21.1(chr1:145621908-145808309)x1	PDZK1, RNF115 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1808275	GRCh37/hg19 1q21.1(chr1:145617349-145888926)x1	CD160, GPR89A +2 more	Copy number loss	not provided	GUncertain significance
Select item 1808021	GRCh37/hg19 1q21.1(chr1:145608099-145888926)x1	CD160, GPR89A +3 more	Copy number loss	not provided	GUncertain significance
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 1694557	GRCh37/hg19 1q21.1(chr1:145648016-145826929)x3	CD160, GPR89A +2 more	Copy number gain	not provided	GUncertain significance
Select item 1468531	NC_000001.10:g.(?_145646115)_(145688220_?)del	RNF115	Deletion	not provided	GUncertain significance
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 1340307	GRCh37/hg19 1q21.1(chr1:145625129-145888926)x1	GPR89A, PDZK1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1339918	GRCh37/hg19 1q21.1(chr1:145625692-145770627)x3	CD160, GPR89A +2 more	Copy number gain	not provided	Gnot provided
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 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 814124	GRCh37/hg19 1q21.1(chr1:145625128-145958362)x1	RNF115, CD160 +2 more	Copy number loss	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 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 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 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

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