19012[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	LOC126807045, LOC126807046 +171 more	Copy number gain	See cases	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic
Select item 58027	GRCh38/hg38 4p13-11(chr4:44577678-49081273)x3	LOC129992578, MIR8053 +81 more	Copy number gain	See cases	GPathogenic
Select item 149579	GRCh38/hg38 4p12-11(chr4:47383124-48851860)x3	ATP10D, CNGA1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 3076356	NM_006587.4(CORIN):c.3118C>G (p.Leu1040Val)	CORIN (L936V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3269003	NM_006587.4(CORIN):c.3107T>A (p.Ile1036Asn)	CORIN (I1036N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076355	NM_006587.4(CORIN):c.3068T>G (p.Val1023Gly)	CORIN (V919G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076354	NM_006587.4(CORIN):c.3055G>A (p.Val1019Ile)	CORIN (V915I +1 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 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 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 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 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 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 3269001	NM_006587.4(CORIN):c.2902A>G (p.Met968Val)	CORIN (M968V +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 3076353	NM_006587.4(CORIN):c.2843G>A (p.Arg948His)	CORIN (R844H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076352	NM_006587.4(CORIN):c.2842C>T (p.Arg948Cys)	CORIN (R948C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039845	NM_006587.4(CORIN):c.2813-4del	CORIN	Deletion (intron variant)	CORIN-related disorder	GLikely benign
Select item 785089	NM_006587.4(CORIN):c.2805C>A (p.Gly935=)	CORIN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3076351	NM_006587.4(CORIN):c.2761G>A (p.Glu921Lys)	CORIN (E921K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076350	NM_006587.4(CORIN):c.2657G>A (p.Arg886Gln)	CORIN (R886Q +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 787801	NM_006587.4(CORIN):c.2598A>T (p.Pro866=)	CORIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 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 3076349	NM_006587.4(CORIN):c.2420C>T (p.Thr807Met)	CORIN (T703M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268999	NM_006587.4(CORIN):c.2417G>A (p.Arg806Gln)	CORIN (R702Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268996	NM_006587.4(CORIN):c.2390G>A (p.Arg797Gln)	CORIN (R693Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3033280	NM_006587.4(CORIN):c.2365+3G>A	CORIN	Single nucleotide variant (intron variant)	CORIN-related disorder	GLikely benign
Select item 3076348	NM_006587.4(CORIN):c.2345C>A (p.Ser782Tyr)	CORIN (S678Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076347	NM_006587.4(CORIN):c.2300A>G (p.Glu767Gly)	CORIN (E767G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 784610	NM_006587.4(CORIN):c.2289C>T (p.Thr763=)	CORIN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3076346	NM_006587.4(CORIN):c.2288C>T (p.Thr763Ile)	CORIN (T763I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076345	NM_006587.4(CORIN):c.2282A>G (p.Asn761Ser)	CORIN (N657S +1 more)	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 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 3269000	NM_006587.4(CORIN):c.2246G>A (p.Arg749Gln)	CORIN (R645Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3268994	NM_006587.4(CORIN):c.2245C>T (p.Arg749Trp)	CORIN (R645W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076344	NM_006587.4(CORIN):c.2233G>A (p.Glu745Lys)	CORIN (E745K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 719800	NM_006587.4(CORIN):c.2199-7G>A	CORIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 3053067	NM_006587.4(CORIN):c.2068+182C>T	CORIN	Single nucleotide variant (synonymous variant +1 more)	CORIN-related disorder	GLikely benign
Select item 1695093	NM_006587.4(CORIN):c.2068+102C>T	CORIN (H687Y)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 811600	NM_006587.4(CORIN):c.2047A>T (p.Ser683Cys)	CORIN (S579C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
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 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 3076343	NM_006587.4(CORIN):c.1810G>A (p.Asp604Asn)	CORIN (D604N +2 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 3076342	NM_006587.4(CORIN):c.1777G>A (p.Val593Ile)	CORIN (V489I +2 more)	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 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 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 785090	NM_006587.4(CORIN):c.1703A>C (p.Gln568Pro)	CORIN (Q531P +2 more)	Single nucleotide variant (missense 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 439552	NM_006587.4(CORIN):c.1624T>A (p.Ser542Thr)	CORIN (S542T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 41463	NM_006587.4(CORIN):c.1615C>T (p.Arg539Cys)	CORIN (R539C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 30451	NM_006587.4(CORIN):c.1414A>G (p.Ser472Gly)	CORIN (S472G +2 more)	Single nucleotide variant (missense variant)	Preeclampsia/eclampsia 5	GPathogenic
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 161648	NM_006587.4(CORIN):c.1400C>G (p.Pro467Arg)	CORIN (P467R +2 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	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 3076340	NM_006587.4(CORIN):c.1334C>T (p.Pro445Leu)	CORIN (P408L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3076339	NM_006587.4(CORIN):c.1315G>A (p.Gly439Ser)	CORIN (G335S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268995	NM_006587.4(CORIN):c.1264C>G (p.Gln422Glu)	CORIN (Q422E +2 more)	Single nucleotide variant (missense variant)	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 716769	NM_006587.4(CORIN):c.1203T>C (p.Gly401=)	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 3268998	NM_006587.4(CORIN):c.1157A>T (p.Glu386Val)	CORIN (E282V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076338	NM_006587.4(CORIN):c.1154T>G (p.Val385Gly)	CORIN (V385G +2 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 716770	NM_006587.4(CORIN):c.1133-10T>C	CORIN	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 618584	NM_006587.4(CORIN):c.1081G>A (p.Val361Met)	CORIN (V361M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 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 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 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 732783	NM_006587.4(CORIN):c.1001T>G (p.Leu334Trp)	CORIN (L334W +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 30450	NM_006587.4(CORIN):c.949A>G (p.Lys317Glu)	CORIN (K317E +1 more)	Single nucleotide variant (missense variant)	Preeclampsia/eclampsia 5	GPathogenic
Select item 3269002	NM_006587.4(CORIN):c.857A>G (p.Lys286Arg)	CORIN (K286R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076364	NM_006587.4(CORIN):c.850C>T (p.Pro284Ser)	CORIN (P217S +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 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 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 3076362	NM_006587.4(CORIN):c.749G>A (p.Ser250Asn)	CORIN (S183N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3043193	NM_006587.4(CORIN):c.738A>G (p.Gln246=)	CORIN	Single nucleotide variant (synonymous variant)	CORIN-related disorder	GLikely benign

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