ClinVar for Gene (Select 10718) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685384	GRCh37/hg19 10q23.1(chr10:84052682-84220300)x1	NRG3	Copy number loss	not provided	GUncertain significance
Select item 2684610	GRCh37/hg19 10q23.1(chr10:84171337-84996714)x3	NRG3	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2616495	NM_001010848.4(NRG3):c.152A>T (p.Glu51Val)	NRG3 (E51V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2594305	NM_001010848.4(NRG3):c.1492C>T (p.Pro498Ser)	NRG3 (P497S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2580310	GRCh37/hg19 10q22.3-23.2(chr10:81611360-89264122)x3	ADIRF, ADIRF-AS1 +33 more	Copy number gain	See cases	GPathogenic
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 2554844	NM_001010848.4(NRG3):c.175G>A (p.Val59Met)	NRG3 (V59M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2545305	NM_001010848.4(NRG3):c.922G>A (p.Glu308Lys)	NRG3 (E87K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535207	NM_001010848.4(NRG3):c.701A>T (p.Tyr234Phe)	NRG3 (Y234F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2524432	NM_001010848.4(NRG3):c.1540G>A (p.Glu514Lys)	NRG3 (E293K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2517238	NM_001010848.4(NRG3):c.634G>C (p.Val212Leu)	NRG3 (V212L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2486097	NM_001010848.4(NRG3):c.839C>T (p.Ser280Phe)	NRG3 (S280F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2482426	NM_001010848.4(NRG3):c.829A>G (p.Thr277Ala)	NRG3 (T56A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457465	NM_001010848.4(NRG3):c.1496G>A (p.Arg499Gln)	NRG3 (R498Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410870	NM_001010848.4(NRG3):c.284A>G (p.Lys95Arg)	NRG3 (K95R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2405048	NM_001010848.4(NRG3):c.718C>G (p.Pro240Ala)	NRG3 (P240A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2393244	NM_001010848.4(NRG3):c.553C>G (p.Arg185Gly)	NRG3 (R185G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2379055	NM_001010848.4(NRG3):c.311A>G (p.Asp104Gly)	NRG3 (D104G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2359733	NM_001010848.4(NRG3):c.688G>T (p.Ala230Ser)	NRG3 (A230S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2334373	NM_001010848.4(NRG3):c.1112T>C (p.Ile371Thr)	NRG3 (I150T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324419	NM_001010848.4(NRG3):c.641G>A (p.Gly214Glu)	NRG3 (G214E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2309258	NM_001010848.4(NRG3):c.551C>T (p.Ala184Val)	NRG3 (A184V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2308184	NM_001010848.4(NRG3):c.905G>C (p.Gly302Ala)	NRG3 (G113A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294250	NM_001010848.4(NRG3):c.1745T>C (p.Leu582Ser)	NRG3 (L385S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257332	NM_001010848.4(NRG3):c.691A>G (p.Thr231Ala)	NRG3 (T231A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2254696	NM_001010848.4(NRG3):c.661A>G (p.Met221Val)	NRG3 (M221V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2241407	NM_001010848.4(NRG3):c.73A>T (p.Thr25Ser)	NRG3 (T25S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2241082	NM_001010848.4(NRG3):c.525C>G (p.Ile175Met)	NRG3 (I175M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2217102	NM_001010848.4(NRG3):c.1963G>A (p.Val655Ile)	NRG3 (V655I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2214414	NM_001010848.4(NRG3):c.392C>G (p.Thr131Ser)	NRG3 (T131S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2214144	NM_001010848.4(NRG3):c.323T>G (p.Met108Arg)	NRG3 (M108R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1807623	GRCh37/hg19 10q23.1-23.32(chr10:82595472-93542416)x1	ACTA2, ADIRF +56 more	Copy number loss	not provided	GPathogenic
Select item 1708188	GRCh37/hg19 10q23.1-23.31(chr10:83533660-91913077)x1	ACTA2, ADIRF +50 more	Copy number loss	See cases	GPathogenic
Select item 1703626	GRCh37/hg19 10q22.3-23.2(chr10:81630468-88980961)	ADIRF, ADIRF-AS1 +32 more	Copy number loss	Chromosome 10q23 deletion syndrome	GPathogenic
Select item 1341182	GRCh37/hg19 10q23.1(chr10:84224173-84996714)x3	NRG3	Copy number gain	not provided	GUncertain significance
Select item 1340574	GRCh37/hg19 10q23.1(chr10:83955621-84084069)x1	NRG3	Copy number loss	not provided	GLikely benign
Select item 1340476	GRCh37/hg19 10q23.1(chr10:84101169-84147598)x1	NRG3	Copy number loss	not provided	GUncertain significance
Select item 1340431	GRCh37/hg19 10q23.1(chr10:83500374-83809170)x3	NRG3	Copy number gain	not provided	GLikely benign
Select item 1340005	GRCh37/hg19 10q22.3-23.1(chr10:81622295-83932730)x1	ANXA11, DYDC1 +9 more	Copy number loss	not provided	GUncertain significance
Select item 981172	Single allele	BMPR1A, CCSER2 +33 more	Deletion	not provided	GPathogenic
Select item 979278	GRCh37/hg19 10q23.1(chr10:82802340-85645599)x1	NRG3	Copy number loss	not provided	GUncertain significance
Select item 979276	GRCh37/hg19 10q23.1(chr10:83872353-83993705)x1	NRG3	Copy number loss	not provided	GUncertain significance
Select item 979275	GRCh37/hg19 10q22.3-23.2(chr10:81457752-89253430)x1	DYDC1, DYDC2 +34 more	Copy number loss	not provided	GPathogenic
Select item 979274	GRCh37/hg19 10q22.3-23.2(chr10:81617260-89146780)x1	ADIRF, ADIRF-AS1 +33 more	Copy number loss	not provided	GPathogenic
Select item 815364	GRCh37/hg19 10q23.1(chr10:84213250-84415688)x3	NRG3	Copy number gain	not provided	GUncertain significance
Select item 815362	GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1	ADIRF, ADIRF-AS1 +32 more	Copy number loss	not provided	GPathogenic
Select item 770207	NM_001010848.4(NRG3):c.702C>T (p.Tyr234=)	NRG3	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 760705	NM_001010848.4(NRG3):c.1149C>T (p.Phe383=)	NRG3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 737323	NM_001010848.4(NRG3):c.2007C>G (p.Pro669=)	NRG3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 731048	NM_001010848.4(NRG3):c.1414A>C (p.Ser472Arg)	NRG3 (S283R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 720000	NM_001010848.4(NRG3):c.1019C>T (p.Ser340Leu)	NRG3 (S119L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 717977	NM_001010848.4(NRG3):c.1488G>A (p.Pro496=)	NRG3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 717976	NM_001010848.4(NRG3):c.1171C>G (p.Gln391Glu)	NRG3 (Q170E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 716399	NM_001010848.4(NRG3):c.297C>T (p.Pro99=)	NRG3	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 691408	NM_001010848.4(NRG3):c.1986C>T (p.Ser662=)	NRG3	Single nucleotide variant (synonymous variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 691407	NM_001010848.4(NRG3):c.1770A>G (p.Pro590=)	NRG3	Single nucleotide variant (synonymous variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 691406	NM_001010848.4(NRG3):c.823+1856C>G	NRG3 (T20R)	Single nucleotide variant (missense variant +2 more)	Aganglionic megacolon	GUncertain significance
Select item 687484	GRCh37/hg19 10q23.1(chr10:83840541-85657735)x3	NRG3	Copy number gain	not provided	GUncertain significance
Select item 685280	GRCh37/hg19 10q23.1(chr10:83438978-83696170)x3	NRG3	Copy number gain	not provided	GUncertain significance
Select item 685029	GRCh37/hg19 10q23.1(chr10:83070210-84091078)x1	NRG3	Copy number loss	not provided	GUncertain significance
Select item 625557	GRCh37/hg19 10q22.3-23.2(chr10:81697811-88768847)	ADIRF, ADIRF-AS1 +29 more	Copy number loss	not provided	GPathogenic
Select item 599415	NM_001010848.4(NRG3):c.1951G>A (p.Glu651Lys)	NRG3 (E651K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 563795	GRCh37/hg19 10q23.1-23.32(chr10:83379241-93219169)x1	ACTA2, ADIRF +55 more	Copy number loss	not provided	GPathogenic
Select item 563793	GRCh37/hg19 10q22.3-23.2(chr10:81644079-88973306)x3	LINC01520, LOC101929662 +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 563786	GRCh37/hg19 10q22.3-23.1(chr10:79808669-84008729)x3	MAT1A, DYDC1 +17 more	Copy number gain	not provided	GUncertain significance
Select item 563773	GRCh37/hg19 10q23.1(chr10:82489622-84101126)x3	NRG3	Copy number gain	not provided	GUncertain significance
Select item 563753	GRCh37/hg19 10q23.1(chr10:83239071-83844327)x3	NRG3	Copy number gain	not provided	GUncertain significance
Select item 547136	GRCh37/hg19 10q23.1(chr10:84462140-85366702)x3	NRG3	Copy number gain	not provided	GLikely benign
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442930	GRCh37/hg19 10q23.1(chr10:83476233-86036350)x1	C10orf99, CDHR1 +5 more	Copy number loss	See cases	GUncertain significance
Select item 442213	GRCh37/hg19 10q23.1-23.2(chr10:82013260-89166455)x1	ADIRF, ADIRF-AS1 +29 more	Copy number loss	See cases	GPathogenic
Select item 442036	GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1	ADIRF, ADIRF-AS1 +32 more	Copy number loss	See cases	GPathogenic

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