440435[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 322954	NM_001004334.4(GPR179):c.*824G>A	GPR179	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 890325	NM_001004334.4(GPR179):c.*640G>T	GPR179	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 322955	NM_001004334.4(GPR179):c.*613G>C	GPR179	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1E	GBenign
Select item 322956	NM_001004334.4(GPR179):c.*554C>T	GPR179	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 322957	NM_001004334.4(GPR179):c.*523G>A	GPR179	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1E	GBenign
Select item 890326	NM_001004334.4(GPR179):c.*522C>T	GPR179	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 322958	NM_001004334.4(GPR179):c.*516T>C	GPR179	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 322959	NM_001004334.4(GPR179):c.*454G>A	GPR179	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 890883	NM_001004334.4(GPR179):c.*453C>T	GPR179	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 890884	NM_001004334.4(GPR179):c.*388A>C	GPR179	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 322960	NM_001004334.4(GPR179):c.*362G>A	GPR179	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1E	GBenign
Select item 890885	NM_001004334.4(GPR179):c.*359C>G	GPR179	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 322961	NM_001004334.4(GPR179):c.*338G>A	GPR179	Single nucleotide variant (3 prime UTR variant)	Congenital Stationary Night Blindness, Recessive	GUncertain significance
Select item 322962	NM_001004334.4(GPR179):c.*304A>G	GPR179	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 890886	NM_001004334.4(GPR179):c.*17G>C	GPR179	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 1500892	NM_001004334.4(GPR179):c.7099G>A (p.Glu2367Lys)	GPR179 (E2367K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 322963	NM_001004334.4(GPR179):c.7080T>G (p.Thr2360=)	GPR179	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1976988	NM_001004334.4(GPR179):c.7056G>A (p.Gln2352=)	GPR179	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1388627	NM_001004334.4(GPR179):c.7046T>C (p.Phe2349Ser)	GPR179 (F2349S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1528615	NM_001004334.4(GPR179):c.7042G>A (p.Ala2348Thr)	GPR179 (A2348T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 322964	NM_001004334.4(GPR179):c.7035C>T (p.Gly2345=)	GPR179	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1939853	NM_001004334.4(GPR179):c.7018T>A (p.Leu2340Ile)	GPR179 (L2340I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1477301	NM_001004334.4(GPR179):c.7016C>T (p.Ser2339Phe)	GPR179 (S2339F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1528954	NM_001004334.4(GPR179):c.7014G>A (p.Ser2338=)	GPR179	Single nucleotide variant (synonymous variant)	GPR179-related disorder +1 more	GBenign/Likely benign
Select item 1488810	NM_001004334.4(GPR179):c.7013C>T (p.Ser2338Leu)	GPR179 (S2338L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947031	NM_001004334.4(GPR179):c.7009T>A (p.Ser2337Thr)	GPR179 (S2337T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1509340	NM_001004334.4(GPR179):c.7000G>A (p.Glu2334Lys)	GPR179 (E2334K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1419888	NM_001004334.4(GPR179):c.6998C>G (p.Ala2333Gly)	GPR179 (A2333G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3101633	NM_001004334.4(GPR179):c.6992A>G (p.Gln2331Arg)	GPR179 (Q2331R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1016779	NM_001004334.4(GPR179):c.6974C>T (p.Ala2325Val)	GPR179 (A2325V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902231	NM_001004334.4(GPR179):c.6972A>G (p.Leu2324=)	GPR179	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 322965	NM_001004334.4(GPR179):c.6965C>T (p.Thr2322Ile)	GPR179 (T2322I)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 1348171	NM_001004334.4(GPR179):c.6953T>C (p.Leu2318Pro)	GPR179 (L2318P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123890	NM_001004334.4(GPR179):c.6952C>A (p.Leu2318Ile)	GPR179 (L2318I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921042	NM_001004334.4(GPR179):c.6952C>T (p.Leu2318Phe)	GPR179 (L2318F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1367840	NM_001004334.4(GPR179):c.6950G>A (p.Gly2317Glu)	GPR179 (G2317E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2018502	NM_001004334.4(GPR179):c.6945T>C (p.Pro2315=)	GPR179	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1424033	NM_001004334.4(GPR179):c.6928dup (p.Arg2310fs)	GPR179 (R2310fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1991334	NM_001004334.4(GPR179):c.6924T>C (p.Gly2308=)	GPR179	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1528771	NM_001004334.4(GPR179):c.6924T>G (p.Gly2308=)	GPR179	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898942	NM_001004334.4(GPR179):c.6920_6922del (p.Glu2307del)	GPR179 (E2307del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1104891	NM_001004334.4(GPR179):c.6919G>A (p.Glu2307Lys)	GPR179 (E2307K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2283557	NM_001004334.4(GPR179):c.6913A>C (p.Thr2305Pro)	GPR179 (T2305P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1506506	NM_001004334.4(GPR179):c.6893G>A (p.Ser2298Asn)	GPR179 (S2298N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1989179	NM_001004334.4(GPR179):c.6885C>G (p.Pro2295=)	GPR179	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1060327	NM_001004334.4(GPR179):c.6880T>G (p.Cys2294Gly)	GPR179 (C2294G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941509	NM_001004334.4(GPR179):c.6847_6848del (p.Leu2283fs)	GPR179 (L2283fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2002683	NM_001004334.4(GPR179):c.6844C>A (p.Pro2282Thr)	GPR179 (P2282T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3282326	NM_001004334.4(GPR179):c.6826T>C (p.Cys2276Arg)	GPR179 (C2276R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1017082	NM_001004334.4(GPR179):c.6824T>G (p.Leu2275Arg)	GPR179 (L2275R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 322966	NM_001004334.4(GPR179):c.6824T>C (p.Leu2275Pro)	GPR179 (L2275P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1936663	NM_001004334.4(GPR179):c.6813T>C (p.Pro2271=)	GPR179	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1462959	NM_001004334.4(GPR179):c.6802C>T (p.Pro2268Ser)	GPR179 (P2268S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 322967	NM_001004334.4(GPR179):c.6798T>G (p.Phe2266Leu)	GPR179 (F2266L)	Single nucleotide variant (missense variant)	GPR179-related disorder +2 more	GBenign
Select item 1429335	NM_001004334.4(GPR179):c.6793G>T (p.Glu2265Ter)	GPR179 (E2265*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1045010	NM_001004334.4(GPR179):c.6793G>A (p.Glu2265Lys)	GPR179 (E2265K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 423230	NM_001004334.4(GPR179):c.6789del (p.Arg2264fs)	GPR179 (R2264fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1009677	NM_001004334.4(GPR179):c.6787C>T (p.Arg2263Trp)	GPR179 (R2263W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1364858	NM_001004334.4(GPR179):c.6765CCT[1] (p.Leu2257del)	GPR179 (L2257del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1463081	NM_001004334.4(GPR179):c.6761C>T (p.Ser2254Phe)	GPR179 (S2254F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2004706	NM_001004334.4(GPR179):c.6755A>G (p.Glu2252Gly)	GPR179 (E2252G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1964677	NM_001004334.4(GPR179):c.6755A>T (p.Glu2252Val)	GPR179 (E2252V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2112247	NM_001004334.4(GPR179):c.6751T>C (p.Ser2251Pro)	GPR179 (S2251P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1358203	NM_001004334.4(GPR179):c.6731G>A (p.Gly2244Glu)	GPR179 (G2244E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2980406	NM_001004334.4(GPR179):c.6729T>G (p.Pro2243=)	GPR179	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1635953	NM_001004334.4(GPR179):c.6723C>T (p.Ile2241=)	GPR179	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3101632	NM_001004334.4(GPR179):c.6716C>T (p.Ala2239Val)	GPR179 (A2239V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1036968	NM_001004334.4(GPR179):c.6715_6716delinsCT (p.Ala2239Leu)	GPR179 (A2239L)	Indel (missense variant)	not provided	GUncertain significance
Select item 1468238	NM_001004334.4(GPR179):c.6710C>T (p.Thr2237Ile)	GPR179 (T2237I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2543629	NM_001004334.4(GPR179):c.6697A>C (p.Lys2233Gln)	GPR179 (K2233Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1417662	NM_001004334.4(GPR179):c.6697A>G (p.Lys2233Glu)	GPR179 (K2233E)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1483470	NM_001004334.4(GPR179):c.6695A>G (p.Asn2232Ser)	GPR179 (N2232S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1014302	NM_001004334.4(GPR179):c.6686C>T (p.Pro2229Leu)	GPR179 (P2229L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2341243	NM_001004334.4(GPR179):c.6683A>C (p.Asp2228Ala)	GPR179 (D2228A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2099153	NM_001004334.4(GPR179):c.6655G>T (p.Ala2219Ser)	GPR179 (A2219S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1417813	NM_001004334.4(GPR179):c.6641T>C (p.Met2214Thr)	GPR179 (M2214T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1525143	NM_001004334.4(GPR179):c.6637A>C (p.Ser2213Arg)	GPR179 (S2213R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 322968	NM_001004334.4(GPR179):c.6621C>T (p.Ser2207=)	GPR179	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 1505075	NM_001004334.4(GPR179):c.6592G>A (p.Gly2198Ser)	GPR179 (G2198S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1420546	NM_001004334.4(GPR179):c.6574G>A (p.Gly2192Arg)	GPR179 (G2192R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356705	NM_001004334.4(GPR179):c.6541G>A (p.Ala2181Thr)	GPR179 (A2181T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092721	NM_001004334.4(GPR179):c.6540G>A (p.Glu2180=)	GPR179	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1509457	NM_001004334.4(GPR179):c.6539A>G (p.Glu2180Gly)	GPR179 (E2180G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1519812	NM_001004334.4(GPR179):c.6530G>C (p.Arg2177Thr)	GPR179 (R2177T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2034243	NM_001004334.4(GPR179):c.6528C>G (p.Pro2176=)	GPR179	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2030772	NM_001004334.4(GPR179):c.6528C>A (p.Pro2176=)	GPR179	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1633623	NM_001004334.4(GPR179):c.6495G>A (p.Thr2165=)	GPR179	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1424364	NM_001004334.4(GPR179):c.6494C>T (p.Thr2165Met)	GPR179 (T2165M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1120931	NM_001004334.4(GPR179):c.6494C>A (p.Thr2165Lys)	GPR179 (T2165K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1901697	NM_001004334.4(GPR179):c.6491G>A (p.Gly2164Glu)	GPR179 (G2164E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 322969	NM_001004334.4(GPR179):c.6475A>G (p.Lys2159Glu)	GPR179 (K2159E)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E +1 more	GConflicting classifications of pathogenicity
Select item 1668877	NM_001004334.4(GPR179):c.6471T>C (p.Leu2157=)	GPR179	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 892124	NM_001004334.4(GPR179):c.6457G>A (p.Gly2153Arg)	GPR179 (G2153R)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 1959408	NM_001004334.4(GPR179):c.6445T>C (p.Ser2149Pro)	GPR179 (S2149P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1670388	NM_001004334.4(GPR179):c.6441A>G (p.Arg2147=)	GPR179	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1913845	NM_001004334.4(GPR179):c.6439A>G (p.Arg2147Gly)	GPR179 (R2147G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1439356	NM_001004334.4(GPR179):c.6439del (p.Arg2147fs)	GPR179 (R2147fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2134879	NM_001004334.4(GPR179):c.6438A>G (p.Glu2146=)	GPR179	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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