C7orf50[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	PSMG3, PSMG3-AS1 +904 more	Copy number gain	See cases	GPathogenic
Select item 155274	GRCh38/hg38 7p22.3(chr7:45130-1298050)x1	LOC129997762, LOC129997763 +102 more	Copy number loss	See cases	GUncertain significance
Select item 155108	GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3	AMZ1, ADAP1 +246 more	Copy number gain	See cases	GUncertain significance
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	LOC129997989, LOC129997990 +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 154928	GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1	LOC129997784, LOC129997785 +245 more	Copy number loss	See cases	GPathogenic
Select item 160967	GRCh38/hg38 7p22.3(chr7:54185-1843584)x1	ADAP1, C7orf50 +140 more	Copy number loss	See cases	GPathogenic
Select item 148079	GRCh38/hg38 7p22.3(chr7:54185-1331046)x1	ADAP1, C7orf50 +102 more	Copy number loss	See cases	GUncertain significance
Select item 147625	GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1	ADAP1, AMZ1 +246 more	Copy number loss	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	LOC123924897, LOC123924898 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	LOC110120728, LOC110120749 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 144710	GRCh38/hg38 7p22.3(chr7:54185-1206119)x3	ADAP1, C7orf50 +97 more	Copy number gain	See cases	GUncertain significance
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	See cases	GPathogenic
Select item 58496	GRCh38/hg38 7p22.3(chr7:54185-1441125)x1	ADAP1, C7orf50 +108 more	Copy number loss	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +1298 more	Copy number gain	See cases	GPathogenic
Select item 32434	GRCh38/hg38 7p22.3(chr7:54185-1843584)x1	ADAP1, C7orf50 +140 more	Copy number loss	See cases	GPathogenic
Select item 149269	GRCh38/hg38 7p22.3(chr7:689554-2031521)x3	ADAP1, C7orf50 +117 more	Copy number gain	See cases	GUncertain significance
Select item 147514	GRCh38/hg38 7p22.3(chr7:791215-1993065)x3	ADAP1, C7orf50 +105 more	Copy number gain	See cases	GUncertain significance
Select item 151574	GRCh38/hg38 7p22.3(chr7:890905-990730)x3	ADAP1, C7orf50 +18 more	Copy number gain	See cases	GBenign
Select item 152399	GRCh38/hg38 7p22.3(chr7:896276-1022380)x3	ADAP1, C7orf50 +20 more	Copy number gain	See cases	GBenign
Select item 2398370	NM_017781.3(CYP2W1):c.58G>A (p.Ala20Thr)	CYP2W1, C7orf50 (A20T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394824	NM_017781.3(CYP2W1):c.89G>A (p.Arg30Gln)	C7orf50, CYP2W1 (R30Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517565	NM_017781.3(CYP2W1):c.124G>A (p.Gly42Arg)	C7orf50, CYP2W1 (G42R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269464	NM_017781.3(CYP2W1):c.170T>C (p.Met57Thr)	C7orf50, CYP2W1 (M57T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286866	NM_017781.3(CYP2W1):c.190G>C (p.Gly64Arg)	C7orf50, CYP2W1 (G64R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366424	NM_017781.3(CYP2W1):c.208C>T (p.His70Tyr)	CYP2W1, C7orf50 (H70Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495070	NM_017781.3(CYP2W1):c.223A>G (p.Lys75Glu)	C7orf50, CYP2W1 (K75E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525263	NM_017781.3(CYP2W1):c.269C>T (p.Ala90Val)	C7orf50, CYP2W1 (A90V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2400170	NM_017781.3(CYP2W1):c.326A>G (p.Gln109Arg)	C7orf50, CYP2W1 (Q109R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214338	NM_017781.3(CYP2W1):c.340A>G (p.Ile114Val)	CYP2W1, C7orf50 (I114V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214339	NM_017781.3(CYP2W1):c.341T>G (p.Ile114Ser)	CYP2W1, C7orf50 (I114S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391159	NM_017781.3(CYP2W1):c.343T>A (p.Phe115Ile)	C7orf50, CYP2W1 (F115I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358112	NM_017781.3(CYP2W1):c.359C>T (p.Ala120Val)	CYP2W1, C7orf50 (A120V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257189	NM_017781.3(CYP2W1):c.365G>T (p.Trp122Leu)	C7orf50, CYP2W1 (W122L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461346	NM_017781.3(CYP2W1):c.412G>A (p.Val138Met)	C7orf50, CYP2W1 (V138M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241516	NM_017781.3(CYP2W1):c.490C>T (p.Arg164Trp)	CYP2W1, C7orf50 (R164W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485908	NM_017781.3(CYP2W1):c.518G>C (p.Trp173Ser)	C7orf50, CYP2W1 (W173S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225955	NM_017781.3(CYP2W1):c.542C>T (p.Ala181Val)	CYP2W1, C7orf50 (A181V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471197	NM_017781.3(CYP2W1):c.556C>T (p.Arg186Cys)	C7orf50, CYP2W1 (R186C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206238	NM_017781.3(CYP2W1):c.599G>C (p.Gly200Ala)	CYP2W1, C7orf50 (G200A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215953	NM_017781.3(CYP2W1):c.661C>G (p.Pro221Ala)	CYP2W1, C7orf50 (P221A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657174	NM_017781.3(CYP2W1):c.669C>T (p.Leu223=)	C7orf50, CYP2W1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2223821	NM_017781.3(CYP2W1):c.691C>T (p.Arg231Trp)	C7orf50, CYP2W1 (R231W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458648	NM_017781.3(CYP2W1):c.718G>A (p.Val240Ile)	C7orf50, CYP2W1 (V240I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357802	NM_017781.3(CYP2W1):c.721C>T (p.Arg241Cys)	C7orf50, CYP2W1 (R241C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220821	NM_017781.3(CYP2W1):c.745G>A (p.Glu249Lys)	C7orf50, CYP2W1 (E249K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358113	NM_017781.3(CYP2W1):c.751C>T (p.Arg251Trp)	C7orf50, CYP2W1 (R251W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216206	NM_017781.3(CYP2W1):c.757C>T (p.Pro253Ser)	C7orf50, CYP2W1 (P253S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785204	NM_017781.3(CYP2W1):c.771G>A (p.Pro257=)	C7orf50, CYP2W1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2356607	NM_017781.3(CYP2W1):c.781G>A (p.Val261Met)	C7orf50, CYP2W1 (V261M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335630	NM_017781.3(CYP2W1):c.807C>G (p.Ile269Met)	C7orf50, CYP2W1 (I269M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592482	NM_017781.3(CYP2W1):c.836G>T (p.Gly279Val)	C7orf50, CYP2W1 (G279V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288151	NM_017781.3(CYP2W1):c.851C>A (p.Ala284Asp)	C7orf50, CYP2W1 (A284D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2486391	NM_017781.3(CYP2W1):c.964G>A (p.Val322Met)	C7orf50, CYP2W1 (V322M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 791281	NM_017781.3(CYP2W1):c.983G>A (p.Arg328His)	C7orf50, CYP2W1 (R328H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2308529	NM_017781.3(CYP2W1):c.1009C>T (p.Arg337Trp)	CYP2W1, C7orf50 (R337W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247007	NM_017781.3(CYP2W1):c.1048G>A (p.Val350Met)	C7orf50, CYP2W1 (V350M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261611	NM_017781.3(CYP2W1):c.1076C>G (p.Thr359Arg)	C7orf50, CYP2W1 (T359R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356341	NM_017781.3(CYP2W1):c.1096C>T (p.Arg366Cys)	C7orf50, CYP2W1 (R366C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541115	NM_017781.3(CYP2W1):c.1217A>G (p.Asn406Ser)	C7orf50, CYP2W1 (N406S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595897	NM_017781.3(CYP2W1):c.1237G>A (p.Ala413Thr)	C7orf50, CYP2W1 (A413T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2456719	NM_017781.3(CYP2W1):c.1259G>C (p.Arg420Pro)	C7orf50, CYP2W1 +1 more (R420P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357788	NM_017781.3(CYP2W1):c.1310G>A (p.Arg437His)	CYP2W1, C7orf50 (R437H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356795	NM_017781.3(CYP2W1):c.1363C>T (p.Arg455Cys)	CYP2W1, C7orf50 (R455C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403911	NM_017781.3(CYP2W1):c.1390C>G (p.Pro464Ala)	CYP2W1, C7orf50 (P464A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2258608	NM_001318252.2(C7orf50):c.362C>T (p.Thr121Met)	C7orf50 (T107M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233015	NM_001318252.2(C7orf50):c.208C>G (p.Leu70Val)	C7orf50 (L70V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 770731	NM_001303473.2(GPR146):c.123C>T (p.Gly41=)	C7orf50, GPR146	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 773473	NM_001303473.2(GPR146):c.444C>T (p.Cys148=)	C7orf50, GPR146	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 148752	GRCh38/hg38 7p22.3(chr7:1085248-2530644)x4	LOC129997808, LOC129997809 +116 more	Copy number gain	See cases	GUncertain significance
Select item 770179	NM_001098201.3(GPER1):c.14C>T (p.Ser5Phe)	C7orf50, GPER1 (S5F)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1248609	NM_001098201.3(GPER1):c.47C>T (p.Pro16Leu)	C7orf50, GPER1 (P16L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2225654	NM_001098201.3(GPER1):c.88G>A (p.Glu30Lys)	C7orf50, GPER1 (E30K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283237	NM_001098201.3(GPER1):c.248T>C (p.Val83Ala)	C7orf50, GPER1 (V83A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394790	NM_001098201.3(GPER1):c.271A>T (p.Met91Leu)	GPER1, C7orf50 (M91L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247919	NM_001098201.3(GPER1):c.490C>T (p.Arg164Cys)	C7orf50, GPER1 (R164C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336945	NM_001098201.3(GPER1):c.566C>T (p.Thr189Met)	C7orf50, GPER1 (T189M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372137	NM_001098201.3(GPER1):c.583G>A (p.Ala195Thr)	GPER1, C7orf50 (A195T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368351	NM_001098201.3(GPER1):c.673G>A (p.Val225Met)	GPER1, C7orf50 (V225M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604284	NM_001098201.3(GPER1):c.690C>G (p.Ile230Met)	GPER1, C7orf50 (I230M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462000	NM_001098201.3(GPER1):c.695T>C (p.Leu232Pro)	C7orf50, GPER1 (L232P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555145	NM_001098201.3(GPER1):c.742C>T (p.Arg248Cys)	C7orf50, GPER1 (R248C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350793	NM_001098201.3(GPER1):c.808G>A (p.Val270Ile)	GPER1, C7orf50 (V270I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2302245	NM_001098201.3(GPER1):c.830T>C (p.Val277Ala)	C7orf50, GPER1 (V277A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2371320	NM_001098201.3(GPER1):c.856C>T (p.Arg286Trp)	C7orf50, GPER1 (R286W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540197	NM_001098201.3(GPER1):c.868G>A (p.Gly290Arg)	C7orf50, GPER1 (G290R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2254859	NM_001098201.3(GPER1):c.890C>A (p.Ser297Tyr)	GPER1, C7orf50 (S297Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332185	NM_001098201.3(GPER1):c.1053C>G (p.Phe351Leu)	C7orf50, GPER1 (F351L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293458	NM_001098201.3(GPER1):c.1093G>A (p.Glu365Lys)	GPER1, C7orf50 (E365K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544874	NM_001098201.3(GPER1):c.1104T>A (p.Asp368Glu)	C7orf50, GPER1 (D368E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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

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