ClinVar for Gene (Select 84310) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282152	NM_001098201.3(GPER1):c.361G>A (p.Glu121Lys)	C7orf50, GPER1 (E121K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282151	NM_001098201.3(GPER1):c.791T>C (p.Val264Ala)	C7orf50, GPER1 (V264A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270622	NM_017781.3(CYP2W1):c.407T>C (p.Leu136Pro)	CHLSN, CYP2W1 (L136P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270621	NM_017781.3(CYP2W1):c.851C>T (p.Ala284Val)	CHLSN, CYP2W1 (A284V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270620	NM_017781.3(CYP2W1):c.515G>A (p.Gly172Asp)	CHLSN, CYP2W1 (G172D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270619	NM_017781.3(CYP2W1):c.377G>A (p.Arg126His)	CHLSN, CYP2W1 (R126H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101298	NM_001098201.3(GPER1):c.989C>G (p.Thr330Ser)	C7orf50, GPER1 (T330S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101297	NM_001098201.3(GPER1):c.731C>T (p.Ala244Val)	C7orf50, GPER1 (A244V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101296	NM_001098201.3(GPER1):c.341T>C (p.Ile114Thr)	C7orf50, GPER1 (I114T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101295	NM_001098201.3(GPER1):c.133G>A (p.Gly45Arg)	C7orf50, GPER1 (G45R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101294	NM_001098201.3(GPER1):c.1100C>T (p.Ser367Leu)	C7orf50, GPER1 (S367L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101293	NM_001098201.3(GPER1):c.107C>T (p.Pro36Leu)	C7orf50, GPER1 (P36L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079603	NM_017781.3(CYP2W1):c.953T>G (p.Val318Gly)	CHLSN, CYP2W1 (V318G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079602	NM_017781.3(CYP2W1):c.947C>T (p.Pro316Leu)	CHLSN, CYP2W1 (P316L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079601	NM_017781.3(CYP2W1):c.77C>T (p.Ser26Phe)	CHLSN, CYP2W1 (S26F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079600	NM_017781.3(CYP2W1):c.752G>A (p.Arg251Gln)	CHLSN, CYP2W1 (R251Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079599	NM_017781.3(CYP2W1):c.655G>A (p.Val219Ile)	CHLSN, CYP2W1 (V219I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3079598	NM_017781.3(CYP2W1):c.650T>C (p.Phe217Ser)	CHLSN, CYP2W1 (F217S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079597	NM_017781.3(CYP2W1):c.149C>T (p.Ser50Leu)	CHLSN, CYP2W1 (S50L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079596	NM_017781.3(CYP2W1):c.1453T>C (p.Cys485Arg)	CHLSN, CYP2W1 (C485R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079595	NM_017781.3(CYP2W1):c.1280C>G (p.Ser427Cys)	CHLSN, CYP2W1 +1 more (S427C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079594	NM_017781.3(CYP2W1):c.1091T>C (p.Val364Ala)	CHLSN, CYP2W1 (V364A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079593	NM_017781.3(CYP2W1):c.1051C>T (p.Leu351Phe)	CHLSN, CYP2W1 (L351F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079592	NM_017781.3(CYP2W1):c.1010G>A (p.Arg337Gln)	CHLSN, CYP2W1 (R337Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3062959	GRCh37/hg19 7p22.3(chr7:43360-2020306)x1	ADAP1, C7orf50 +19 more	Copy number loss	not specified	GPathogenic
Select item 2685227	GRCh37/hg19 7p22.3(chr7:967186-1152455)x1	ADAP1, C7orf50 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2684470	GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3	RNF216, SDK1 +48 more	Copy number gain	not provided	GPathogenic
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 2657178	NM_001303473.2(GPR146):c.662A>G (p.Asp221Gly)	C7orf50, GPR146 (D221G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2657177	NM_001303473.2(GPR146):c.404G>A (p.Arg135Gln)	C7orf50, GPR146 (R135Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2657176	NM_001303473.2(GPR146):c.222G>C (p.Leu74=)	C7orf50, GPR146	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657175	NM_001318252.2(C7orf50):c.405+3G>A	C7orf50 (C6Y)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2657174	NM_017781.3(CYP2W1):c.669C>T (p.Leu223=)	CHLSN, CYP2W1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2604284	NM_001098201.3(GPER1):c.690C>G (p.Ile230Met)	CHLSN, GPER1 (I230M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595897	NM_017781.3(CYP2W1):c.1237G>A (p.Ala413Thr)	CHLSN, CYP2W1 (A413T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592482	NM_017781.3(CYP2W1):c.836G>T (p.Gly279Val)	CHLSN, CYP2W1 (G279V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555145	NM_001098201.3(GPER1):c.742C>T (p.Arg248Cys)	CHLSN, GPER1 (R248C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544874	NM_001098201.3(GPER1):c.1104T>A (p.Asp368Glu)	CHLSN, GPER1 (D368E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2541115	NM_017781.3(CYP2W1):c.1217A>G (p.Asn406Ser)	CHLSN, CYP2W1 (N406S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540197	NM_001098201.3(GPER1):c.868G>A (p.Gly290Arg)	CHLSN, GPER1 (G290R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525263	NM_017781.3(CYP2W1):c.269C>T (p.Ala90Val)	CHLSN, CYP2W1 (A90V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2517565	NM_017781.3(CYP2W1):c.124G>A (p.Gly42Arg)	CHLSN, CYP2W1 (G42R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495070	NM_017781.3(CYP2W1):c.223A>G (p.Lys75Glu)	CHLSN, CYP2W1 (K75E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486391	NM_017781.3(CYP2W1):c.964G>A (p.Val322Met)	CYP2W1, CHLSN (V322M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485908	NM_017781.3(CYP2W1):c.518G>C (p.Trp173Ser)	CHLSN, CYP2W1 (W173S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471197	NM_017781.3(CYP2W1):c.556C>T (p.Arg186Cys)	CHLSN, CYP2W1 (R186C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462000	NM_001098201.3(GPER1):c.695T>C (p.Leu232Pro)	CHLSN, GPER1 (L232P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461346	NM_017781.3(CYP2W1):c.412G>A (p.Val138Met)	CHLSN, CYP2W1 (V138M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458648	NM_017781.3(CYP2W1):c.718G>A (p.Val240Ile)	CHLSN, CYP2W1 (V240I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456719	NM_017781.3(CYP2W1):c.1259G>C (p.Arg420Pro)	CHLSN, CYP2W1 +1 more (R420P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426527	NC_000007.13:g.(?_193200)_(1498962_?)del	FAM20C, GET4 +13 more	Deletion	not provided	GPathogenic
Select item 2403911	NM_017781.3(CYP2W1):c.1390C>G (p.Pro464Ala)	CHLSN, CYP2W1 (P464A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400170	NM_017781.3(CYP2W1):c.326A>G (p.Gln109Arg)	CHLSN, CYP2W1 (Q109R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398370	NM_017781.3(CYP2W1):c.58G>A (p.Ala20Thr)	CHLSN, CYP2W1 (A20T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394824	NM_017781.3(CYP2W1):c.89G>A (p.Arg30Gln)	CHLSN, CYP2W1 (R30Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394790	NM_001098201.3(GPER1):c.271A>T (p.Met91Leu)	CHLSN, GPER1 (M91L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391159	NM_017781.3(CYP2W1):c.343T>A (p.Phe115Ile)	CHLSN, CYP2W1 (F115I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372137	NM_001098201.3(GPER1):c.583G>A (p.Ala195Thr)	CHLSN, GPER1 (A195T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371320	NM_001098201.3(GPER1):c.856C>T (p.Arg286Trp)	CHLSN, GPER1 (R286W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368351	NM_001098201.3(GPER1):c.673G>A (p.Val225Met)	CHLSN, GPER1 (V225M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366424	NM_017781.3(CYP2W1):c.208C>T (p.His70Tyr)	CHLSN, CYP2W1 (H70Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358113	NM_017781.3(CYP2W1):c.751C>T (p.Arg251Trp)	CHLSN, CYP2W1 (R251W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358112	NM_017781.3(CYP2W1):c.359C>T (p.Ala120Val)	CHLSN, CYP2W1 (A120V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357802	NM_017781.3(CYP2W1):c.721C>T (p.Arg241Cys)	CHLSN, CYP2W1 (R241C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357788	NM_017781.3(CYP2W1):c.1310G>A (p.Arg437His)	CHLSN, CYP2W1 (R437H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356795	NM_017781.3(CYP2W1):c.1363C>T (p.Arg455Cys)	CHLSN, CYP2W1 (R455C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356607	NM_017781.3(CYP2W1):c.781G>A (p.Val261Met)	CHLSN, CYP2W1 (V261M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356341	NM_017781.3(CYP2W1):c.1096C>T (p.Arg366Cys)	CHLSN, CYP2W1 (R366C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350793	NM_001098201.3(GPER1):c.808G>A (p.Val270Ile)	CHLSN, GPER1 (V270I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2336945	NM_001098201.3(GPER1):c.566C>T (p.Thr189Met)	CHLSN, GPER1 (T189M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335630	NM_017781.3(CYP2W1):c.807C>G (p.Ile269Met)	CHLSN, CYP2W1 (I269M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332185	NM_001098201.3(GPER1):c.1053C>G (p.Phe351Leu)	CHLSN, GPER1 (F351L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308529	NM_017781.3(CYP2W1):c.1009C>T (p.Arg337Trp)	CHLSN, CYP2W1 (R337W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302245	NM_001098201.3(GPER1):c.830T>C (p.Val277Ala)	CHLSN, GPER1 (V277A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293458	NM_001098201.3(GPER1):c.1093G>A (p.Glu365Lys)	CHLSN, GPER1 (E365K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288151	NM_017781.3(CYP2W1):c.851C>A (p.Ala284Asp)	CHLSN, CYP2W1 (A284D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2286866	NM_017781.3(CYP2W1):c.190G>C (p.Gly64Arg)	CHLSN, CYP2W1 (G64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283237	NM_001098201.3(GPER1):c.248T>C (p.Val83Ala)	CHLSN, GPER1 (V83A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269464	NM_017781.3(CYP2W1):c.170T>C (p.Met57Thr)	CHLSN, CYP2W1 (M57T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261611	NM_017781.3(CYP2W1):c.1076C>G (p.Thr359Arg)	CHLSN, CYP2W1 (T359R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258608	NM_001318252.2(CHLSN):c.362C>T (p.Thr121Met)	CHLSN (T107M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257189	NM_017781.3(CYP2W1):c.365G>T (p.Trp122Leu)	CHLSN, CYP2W1 (W122L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254859	NM_001098201.3(GPER1):c.890C>A (p.Ser297Tyr)	CHLSN, GPER1 (S297Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247919	NM_001098201.3(GPER1):c.490C>T (p.Arg164Cys)	CHLSN, GPER1 (R164C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247007	NM_017781.3(CYP2W1):c.1048G>A (p.Val350Met)	CHLSN, CYP2W1 (V350M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241516	NM_017781.3(CYP2W1):c.490C>T (p.Arg164Trp)	CHLSN, CYP2W1 (R164W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233015	NM_001318252.2(CHLSN):c.208C>G (p.Leu70Val)	CHLSN (L70V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225955	NM_017781.3(CYP2W1):c.542C>T (p.Ala181Val)	CHLSN, CYP2W1 (A181V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225654	NM_001098201.3(GPER1):c.88G>A (p.Glu30Lys)	CHLSN, GPER1 (E30K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223821	NM_017781.3(CYP2W1):c.691C>T (p.Arg231Trp)	CYP2W1, CHLSN (R231W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220821	NM_017781.3(CYP2W1):c.745G>A (p.Glu249Lys)	CHLSN, CYP2W1 (E249K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216206	NM_017781.3(CYP2W1):c.757C>T (p.Pro253Ser)	CHLSN, CYP2W1 (P253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215953	NM_017781.3(CYP2W1):c.661C>G (p.Pro221Ala)	CHLSN, CYP2W1 (P221A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214339	NM_017781.3(CYP2W1):c.341T>G (p.Ile114Ser)	CHLSN, CYP2W1 (I114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214338	NM_017781.3(CYP2W1):c.340A>G (p.Ile114Val)	CHLSN, CYP2W1 (I114V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206238	NM_017781.3(CYP2W1):c.599G>C (p.Gly200Ala)	CHLSN, CYP2W1 (G200A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808147	GRCh37/hg19 7p22.3(chr7:1142498-1376883)x3	C7orf50, UNCX +1 more	Copy number gain	not provided	GUncertain significance
Select item 1711132	GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3	MAD1L1, MAFK +73 more	Copy number gain	See cases	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic

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