ClinVar for Gene (Select 10699) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3055925	NM_006587.4(CORIN):c.379C>T (p.Leu127Phe)	CORIN (L127F)	Single nucleotide variant (missense variant +1 more)	CORIN-related condition	GLikely benign
Select item 3053067	NM_006587.4(CORIN):c.2068+182C>T	CORIN	Single nucleotide variant (synonymous variant +1 more)	CORIN-related condition	GLikely benign
Select item 3043193	NM_006587.4(CORIN):c.738A>G (p.Gln246=)	CORIN	Single nucleotide variant (synonymous variant)	CORIN-related condition	GLikely benign
Select item 3039845	NM_006587.4(CORIN):c.2813-4del	CORIN	Deletion (intron variant)	CORIN-related condition	GLikely benign
Select item 3034102	NM_006587.4(CORIN):c.618-4_618-3dup	CORIN	Duplication (intron variant)	CORIN-related condition	GLikely benign
Select item 3033280	NM_006587.4(CORIN):c.2365+3G>A	CORIN	Single nucleotide variant (intron variant)	CORIN-related condition	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685964	GRCh37/hg19 4p12(chr4:47375627-47618689)x3	ATP10D, COMMD8 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2654748	NM_006587.4(CORIN):c.304A>G (p.Ile102Val)	CORIN (I102V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2620066	NM_006587.4(CORIN):c.2557G>A (p.Val853Ile)	CORIN (V853I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616987	NM_006587.4(CORIN):c.2956G>T (p.Gly986Cys)	CORIN (G882C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604058	NM_006587.4(CORIN):c.2578A>T (p.Ile860Phe)	CORIN (I860F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599781	NM_006587.4(CORIN):c.2966T>A (p.Leu989His)	CORIN (L989H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597086	NM_006587.4(CORIN):c.2927G>A (p.Gly976Asp)	CORIN (G872D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2587989	NM_006587.4(CORIN):c.2480T>C (p.Ile827Thr)	CORIN (I723T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2569228	NM_006587.4(CORIN):c.2186A>C (p.Gln729Pro)	CORIN (Q625P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556013	NM_006587.4(CORIN):c.1853A>G (p.Glu618Gly)	CORIN (E514G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542937	NM_006587.4(CORIN):c.1051G>T (p.Gly351Trp)	CORIN (G351W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542592	NM_006587.4(CORIN):c.1098C>A (p.His366Gln)	CORIN (H366Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537594	NM_006587.4(CORIN):c.2489G>C (p.Cys830Ser)	CORIN (C830S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534649	NM_006587.4(CORIN):c.1147G>T (p.Gly383Cys)	CORIN (G279C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524367	NM_006587.4(CORIN):c.2096C>T (p.Ser699Phe)	CORIN (S699F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517440	NM_006587.4(CORIN):c.410G>T (p.Ser137Ile)	CORIN (S137I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517146	NM_006587.4(CORIN):c.835A>G (p.Ser279Gly)	CORIN (S279G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512608	NM_006587.4(CORIN):c.428C>A (p.Thr143Asn)	CORIN (T143N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504113	NM_006587.4(CORIN):c.684dup (p.Met229fs)	CORIN (M162fs +1 more)	Duplication (frameshift variant)	Cardiomyopathy +3 more	GPathogenic
Select item 2496503	NM_006587.4(CORIN):c.1876T>A (p.Ser626Thr)	CORIN (S589T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496142	NM_006587.4(CORIN):c.2536G>A (p.Glu846Lys)	CORIN (E846K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494017	NM_006587.4(CORIN):c.35G>A (p.Arg12His)	CORIN, LOC101927179 (R12H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491870	NM_006587.4(CORIN):c.2278C>T (p.Leu760Phe)	CORIN (L760F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489005	NM_006587.4(CORIN):c.475C>T (p.Leu159Phe)	CORIN (L159F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486680	NM_006587.4(CORIN):c.2119G>T (p.Ala707Ser)	CORIN (A707S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2470205	NM_006587.4(CORIN):c.464C>T (p.Thr155Met)	CORIN (T88M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460669	NM_006587.4(CORIN):c.1763G>A (p.Arg588His)	CORIN (R588H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401183	NM_006587.4(CORIN):c.2989C>T (p.Arg997Trp)	CORIN (R893W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397820	NM_006587.4(CORIN):c.116C>T (p.Ala39Val)	CORIN (A39V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397666	NM_006587.4(CORIN):c.815G>A (p.Gly272Asp)	CORIN (G272D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397620	NM_006587.4(CORIN):c.2617C>T (p.Arg873Cys)	CORIN (R769C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393540	NM_006587.4(CORIN):c.1795T>C (p.Cys599Arg)	CORIN (C599R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385315	NM_006587.4(CORIN):c.1069G>T (p.Ala357Ser)	CORIN (A357S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2381306	NM_006587.4(CORIN):c.1099G>A (p.Asp367Asn)	CORIN (D367N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376118	NM_006587.4(CORIN):c.1207G>A (p.Glu403Lys)	CORIN (E366K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375862	NM_006587.4(CORIN):c.145C>G (p.Leu49Val)	CORIN (L49V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362070	NM_006587.4(CORIN):c.53C>G (p.Ser18Cys)	LOC101927179, CORIN (S18C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356133	NM_006587.4(CORIN):c.472C>T (p.Pro158Ser)	CORIN (P158S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345790	NM_006587.4(CORIN):c.122C>G (p.Ala41Gly)	CORIN (A41G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345038	NM_006587.4(CORIN):c.538C>T (p.Arg180Cys)	CORIN (R113C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343539	NM_006587.4(CORIN):c.133C>T (p.Arg45Trp)	CORIN (R45W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326767	NM_006587.4(CORIN):c.1769G>T (p.Gly590Val)	CORIN (G590V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326237	NM_006587.4(CORIN):c.2947G>A (p.Gly983Ser)	CORIN (G879S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318277	NM_006587.4(CORIN):c.2095T>A (p.Ser699Thr)	CORIN (S595T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317402	NM_006587.4(CORIN):c.2255C>G (p.Thr752Arg)	CORIN (T648R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314315	NM_006587.4(CORIN):c.610G>A (p.Asp204Asn)	CORIN (D137N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308830	NM_006587.4(CORIN):c.1722T>G (p.Asp574Glu)	CORIN (D470E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307108	NM_006587.4(CORIN):c.1412C>A (p.Thr471Lys)	CORIN (T367K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306950	NM_006587.4(CORIN):c.2558T>G (p.Val853Gly)	CORIN (V853G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298455	NM_006587.4(CORIN):c.551A>T (p.Tyr184Phe)	CORIN (Y117F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284645	NM_006587.4(CORIN):c.2846T>C (p.Ile949Thr)	CORIN (I949T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279293	NM_006587.4(CORIN):c.782A>G (p.Gln261Arg)	CORIN (Q194R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273052	NM_006587.4(CORIN):c.1091G>A (p.Gly364Asp)	CORIN (G364D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272612	NM_006587.4(CORIN):c.2581A>T (p.Asn861Tyr)	CORIN (N861Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255324	NM_006587.4(CORIN):c.729T>G (p.Phe243Leu)	CORIN (F176L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240565	NM_006587.4(CORIN):c.169G>A (p.Ala57Thr)	CORIN (A57T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240564	NM_006587.4(CORIN):c.1390A>G (p.Met464Val)	CORIN (M360V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210359	NM_006587.4(CORIN):c.2918A>G (p.Tyr973Cys)	CORIN (Y869C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1695093	NM_006587.4(CORIN):c.2068+102C>T	CORIN (H687Y)	Single nucleotide variant (missense variant +1 more)	CORIN-related condition +1 more	GBenign
Select item 1527085	GRCh37/hg19 4p12(chr4:47488430-47906770)	ATP10D, CORIN +1 more	Copy number gain	not specified	GUncertain significance
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 814549	GRCh37/hg19 4p12(chr4:47618736-47895086)x3	NFXL1, CORIN	Copy number gain	not provided	GUncertain significance
Select item 811600	NM_006587.4(CORIN):c.2047A>T (p.Ser683Cys)	CORIN (S579C +2 more)	Single nucleotide variant (missense variant)	Preeclampsia/eclampsia 5	GLikely benign
Select item 787801	NM_006587.4(CORIN):c.2598A>T (p.Pro866=)	CORIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 785092	NM_006587.4(CORIN):c.617+7C>T	CORIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 785091	NM_006587.4(CORIN):c.1664C>T (p.Thr555Ile)	CORIN (T518I +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 785090	NM_006587.4(CORIN):c.1703A>C (p.Gln568Pro)	CORIN (Q531P +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 785089	NM_006587.4(CORIN):c.2805C>A (p.Gly935=)	CORIN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784610	NM_006587.4(CORIN):c.2289C>T (p.Thr763=)	CORIN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778859	NM_006587.4(CORIN):c.1188G>A (p.Thr396=)	CORIN	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 777970	NM_006587.4(CORIN):c.28G>A (p.Glu10Lys)	CORIN, LOC101927179 (E10K)	Single nucleotide variant (missense variant)	CORIN-related condition +1 more	GLikely benign
Select item 770901	NM_006587.4(CORIN):c.618-3dup	CORIN	Duplication (intron variant)	not provided	GBenign
Select item 769632	NM_006587.4(CORIN):c.2375G>A (p.Arg792His)	CORIN (R792H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 732783	NM_006587.4(CORIN):c.1001T>G (p.Leu334Trp)	CORIN (L334W +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 719800	NM_006587.4(CORIN):c.2199-7G>A	CORIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 716770	NM_006587.4(CORIN):c.1133-10T>C	CORIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 716769	NM_006587.4(CORIN):c.1203T>C (p.Gly401=)	CORIN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709078	NM_006587.4(CORIN):c.1573C>T (p.His525Tyr)	CORIN (H525Y +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 694454	GRCh37/hg19 4p12-11(chr4:45868775-48273513)x3	COX7B2, GABRA2 +11 more	Copy number gain	Autism	GLikely pathogenic
Select item 618585	NM_006587.4(CORIN):c.1061G>A (p.Arg354His)	CORIN (R354H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 618584	NM_006587.4(CORIN):c.1081G>A (p.Val361Met)	CORIN (V361M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 618041	NM_006587.4(CORIN):c.1033A>G (p.Thr345Ala)	CORIN (T345A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 562910	GRCh37/hg19 4p12(chr4:47828849-48182073)x1	TEC, NIPAL1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 562909	GRCh37/hg19 4p12(chr4:47720495-47828850)x1	CORIN	Copy number loss	not provided	GUncertain significance

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