ClinVar for MedGen (Select 462183) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2628343	NM_178857.6(RP1L1):c.6689C>A (p.Thr2230Asn)	RP1L1 (T2230N)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GUncertain significance
Select item 2628048	NM_004055.5(CAPN5):c.728G>A (p.Arg243His)	CAPN5 (R199H +2 more)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GUncertain significance
Select item 2616194	NM_178857.6(RP1L1):c.303C>G (p.Cys101Trp)	RP1L1 (C101W)	Single nucleotide variant (missense variant)	Occult macular dystrophy +1 more	GUncertain significance
Select item 1709296	NM_178857.6(RP1L1):c.4198C>G (p.Pro1400Ala)	RP1L1 (P1400A)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GUncertain significance
Select item 1695222	NM_178857.6(RP1L1):c.3956_4003del (p.Ala1319_Glu1334del)	RP1L1	Deletion (inframe_deletion)	not provided +2 more	GBenign/Likely benign
Select item 1676328	NM_178857.6(RP1L1):c.6476C>T (p.Pro2159Leu)	RP1L1 (P2159L)	Single nucleotide variant	Inborn genetic diseases +1 more	GUncertain significance
Select item 1369583	NM_178857.6(RP1L1):c.202C>T (p.Leu68Phe)	RP1L1 (L68F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1334082	NM_178857.6(RP1L1):c.6469_6470delinsAA (p.Ala2157Asn)	RP1L1 (A2157N)	Indel (missense variant)	Occult macular dystrophy	GUncertain significance
Select item 1211909	NM_178857.6(RP1L1):c.455G>A (p.Arg152Gln)	RP1L1 (R152Q)	Single nucleotide variant (missense variant)	Occult macular dystrophy +2 more	GUncertain significance
Select item 992970	NM_178857.6(RP1L1):c.5033del (p.Ala1678fs)	RP1L1 (A1678fs)	Deletion (frameshift variant)	Occult macular dystrophy	GLikely pathogenic
Select item 967490	NM_000539.3(RHO):c.173C>T (p.Thr58Met)	RHO (T58M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 912284	NM_178857.6(RP1L1):c.5577T>G (p.Asp1859Glu)	RP1L1 (D1859E)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GBenign
Select item 912223	NM_178857.6(RP1L1):c.6136G>T (p.Gly2046Trp)	RP1L1 (G2046W)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GUncertain significance
Select item 912222	NM_178857.6(RP1L1):c.6141T>G (p.Asp2047Glu)	RP1L1 (D2047E)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GUncertain significance
Select item 912221	NM_178857.6(RP1L1):c.6174G>A (p.Pro2058=)	RP1L1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +2 more	GBenign/Likely benign
Select item 912220	NM_178857.6(RP1L1):c.6237C>G (p.His2079Gln)	RP1L1 (H2079Q)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GUncertain significance
Select item 912219	NM_178857.6(RP1L1):c.6258T>G (p.Asp2086Glu)	RP1L1 (D2086E)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GUncertain significance
Select item 912156	NM_178857.6(RP1L1):c.6688A>G (p.Thr2230Ala)	RP1L1 (T2230A)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GUncertain significance
Select item 912155	NM_178857.6(RP1L1):c.6689C>T (p.Thr2230Ile)	RP1L1 (T2230I)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GBenign
Select item 912154	NM_178857.6(RP1L1):c.6729A>T (p.Gly2243=)	RP1L1	Single nucleotide variant (synonymous variant)	Occult macular dystrophy	GUncertain significance
Select item 912153	NM_178857.6(RP1L1):c.6733A>T (p.Thr2245Ser)	RP1L1 (T2245S)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GUncertain significance
Select item 912086	NM_178857.6(RP1L1):c.*291C>T	RP1L1	Single nucleotide variant (3 prime UTR variant)	Occult macular dystrophy	GUncertain significance
Select item 912085	NM_178857.6(RP1L1):c.*332G>A	RP1L1	Single nucleotide variant (3 prime UTR variant)	Occult macular dystrophy	GBenign
Select item 912084	NM_178857.6(RP1L1):c.*367C>T	RP1L1	Single nucleotide variant (3 prime UTR variant)	Occult macular dystrophy	GUncertain significance
Select item 911822	NM_178857.6(RP1L1):c.-8C>T	RP1L1	Single nucleotide variant (5 prime UTR variant)	Occult macular dystrophy	GBenign
Select item 911821	NM_178857.6(RP1L1):c.11C>A (p.Thr4Asn)	RP1L1 (T4N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 911778	NM_178857.6(RP1L1):c.292G>A (p.Asp98Asn)	RP1L1 (D98N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 911777	NM_178857.6(RP1L1):c.371C>T (p.Pro124Leu)	RP1L1 (P124L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 911709	NM_178857.6(RP1L1):c.858C>T (p.Gly286=)	RP1L1	Single nucleotide variant (synonymous variant)	Occult macular dystrophy	GUncertain significance
Select item 911708	NM_178857.6(RP1L1):c.905C>T (p.Pro302Leu)	RP1L1 (P302L)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GLikely benign
Select item 911707	NM_178857.6(RP1L1):c.917G>C (p.Gly306Ala)	RP1L1 (G306A)	Single nucleotide variant (missense variant)	Occult macular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 911706	NM_178857.6(RP1L1):c.919G>A (p.Asp307Asn)	RP1L1 (D307N)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GUncertain significance
Select item 911646	NM_178857.6(RP1L1):c.1568C>A (p.Pro523Gln)	RP1L1 (P523Q)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GUncertain significance
Select item 911645	NM_178857.6(RP1L1):c.1587G>C (p.Glu529Asp)	RP1L1 (E529D)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GLikely benign
Select item 911644	NM_178857.6(RP1L1):c.1605G>A (p.Ser535=)	RP1L1	Single nucleotide variant (synonymous variant)	Occult macular dystrophy +1 more	GBenign/Likely benign
Select item 911643	NM_178857.6(RP1L1):c.1617C>T (p.Thr539=)	RP1L1	Single nucleotide variant (synonymous variant)	Occult macular dystrophy	GLikely benign
Select item 911642	NM_178857.6(RP1L1):c.1691C>G (p.Ser564Cys)	RP1L1 (S564C)	Single nucleotide variant (missense variant)	Occult macular dystrophy +1 more	GBenign/Likely benign
Select item 911641	NM_178857.6(RP1L1):c.1734C>T (p.Ala578=)	RP1L1	Single nucleotide variant (synonymous variant)	Occult macular dystrophy	GUncertain significance
Select item 911580	NM_178857.6(RP1L1):c.2205C>T (p.Thr735=)	RP1L1	Single nucleotide variant (synonymous variant)	Occult macular dystrophy	GUncertain significance
Select item 911579	NM_178857.6(RP1L1):c.2235C>T (p.His745=)	RP1L1	Single nucleotide variant (synonymous variant)	Occult macular dystrophy	GUncertain significance
Select item 911578	NM_178857.6(RP1L1):c.2238G>A (p.Ser746=)	RP1L1	Single nucleotide variant (synonymous variant)	Occult macular dystrophy	GBenign
Select item 911577	NM_178857.6(RP1L1):c.2261C>T (p.Pro754Leu)	RP1L1 (P754L)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GLikely benign
Select item 911576	NM_178857.6(RP1L1):c.2315C>T (p.Ser772Leu)	RP1L1 (S772L)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GLikely benign
Select item 911517	NM_178857.6(RP1L1):c.2696C>T (p.Pro899Leu)	RP1L1 (P899L)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GBenign
Select item 911516	NM_178857.6(RP1L1):c.2814G>T (p.Glu938Asp)	RP1L1 (E938D)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GLikely benign
Select item 911459	NM_178857.6(RP1L1):c.3286C>T (p.Arg1096Trp)	RP1L1 (R1096W)	Single nucleotide variant (missense variant)	Occult macular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 911394	NM_178857.6(RP1L1):c.3982G>A (p.Glu1328Lys)	RP1L1 (E1328K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 911393	NM_178857.6(RP1L1):c.3983A>T (p.Glu1328Val)	RP1L1 (E1328V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 911392	NM_178857.6(RP1L1):c.4027G>A (p.Glu1343Lys)	RP1L1 (E1343K)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GUncertain significance
Select item 911391	NM_178857.6(RP1L1):c.4028A>T (p.Glu1343Val)	RP1L1 (E1343V)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GBenign
Select item 911261	NM_178857.6(RP1L1):c.3484G>C (p.Asp1162His)	RP1L1 (D1162H)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GLikely benign
Select item 911260	NM_178857.6(RP1L1):c.3554G>A (p.Gly1185Glu)	RP1L1 (G1185E)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GBenign
Select item 911259	NM_178857.6(RP1L1):c.3569C>T (p.Thr1190Met)	RP1L1 (T1190M)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GBenign
Select item 911194	NM_178857.6(RP1L1):c.4031C>T (p.Thr1344Ile)	RP1L1 (T1344I)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GBenign
Select item 911193	NM_178857.6(RP1L1):c.4038A>G (p.Gly1346=)	RP1L1	Single nucleotide variant (synonymous variant)	Occult macular dystrophy	GUncertain significance
Select item 911192	NM_178857.6(RP1L1):c.4044A>G (p.Gly1348=)	RP1L1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 911191	NM_178857.6(RP1L1):c.4046A>T (p.Gln1349Leu)	RP1L1 (Q1349L)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GBenign
Select item 911190	NM_178857.6(RP1L1):c.4056A>G (p.Glu1352=)	RP1L1	Single nucleotide variant (synonymous variant)	Occult macular dystrophy	GUncertain significance
Select item 911189	NM_178857.6(RP1L1):c.4058A>G (p.Glu1353Gly)	RP1L1 (E1353G)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GUncertain significance
Select item 911188	NM_178857.6(RP1L1):c.4061C>T (p.Ala1354Val)	RP1L1 (A1354V)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GBenign
Select item 911126	NM_178857.6(RP1L1):c.4674C>T (p.Ala1558=)	RP1L1	Single nucleotide variant (synonymous variant)	Occult macular dystrophy	GLikely benign
Select item 911125	NM_178857.6(RP1L1):c.4788C>T (p.Thr1596=)	RP1L1	Single nucleotide variant (synonymous variant)	Occult macular dystrophy	GBenign
Select item 911048	NM_178857.6(RP1L1):c.5652G>C (p.Gln1884His)	RP1L1 (Q1884H)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GUncertain significance
Select item 911047	NM_178857.6(RP1L1):c.5727G>A (p.Pro1909=)	RP1L1	Single nucleotide variant (synonymous variant)	Occult macular dystrophy	GBenign
Select item 910992	NM_178857.6(RP1L1):c.6276G>A (p.Gly2092=)	RP1L1	Single nucleotide variant (synonymous variant)	Occult macular dystrophy	GBenign
Select item 910991	NM_178857.6(RP1L1):c.6291A>G (p.Glu2097=)	RP1L1	Single nucleotide variant (synonymous variant)	Occult macular dystrophy	GUncertain significance
Select item 910990	NM_178857.6(RP1L1):c.6307G>A (p.Ala2103Thr)	RP1L1 (A2103T)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GLikely benign
Select item 910989	NM_178857.6(RP1L1):c.6394A>G (p.Ile2132Val)	RP1L1 (I2132V)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GUncertain significance
Select item 910929	NM_178857.6(RP1L1):c.6958C>T (p.Leu2320Phe)	RP1L1 (L2320F)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GUncertain significance
Select item 910865	NM_178857.6(RP1L1):c.*441A>C	RP1L1	Single nucleotide variant (3 prime UTR variant)	Occult macular dystrophy	GUncertain significance
Select item 910594	NM_178857.6(RP1L1):c.40C>T (p.Arg14Cys)	RP1L1 (R14C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 910593	NM_178857.6(RP1L1):c.67C>T (p.Arg23Cys)	RP1L1 (R23C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 910592	NM_178857.6(RP1L1):c.72C>A (p.Thr24=)	RP1L1	Single nucleotide variant (synonymous variant)	Occult macular dystrophy	GUncertain significance
Select item 910536	NM_178857.6(RP1L1):c.477C>A (p.Asn159Lys)	RP1L1 (N159K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 910475	NM_178857.6(RP1L1):c.967G>A (p.Val323Met)	RP1L1 (V323M)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GLikely benign
Select item 910474	NM_178857.6(RP1L1):c.1035G>A (p.Arg345=)	RP1L1	Single nucleotide variant (synonymous variant)	Occult macular dystrophy	GBenign
Select item 910473	NM_178857.6(RP1L1):c.1179A>G (p.Glu393=)	RP1L1	Single nucleotide variant (synonymous variant)	Occult macular dystrophy	GUncertain significance
Select item 910419	NM_178857.6(RP1L1):c.1763A>G (p.Asp588Gly)	RP1L1 (D588G)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GBenign/Likely benign
Select item 910418	NM_178857.6(RP1L1):c.1795G>A (p.Glu599Lys)	RP1L1 (E599K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 910417	NM_178857.6(RP1L1):c.1811C>T (p.Ala604Val)	RP1L1 (A604V)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GBenign
Select item 910364	NM_178857.6(RP1L1):c.2399C>T (p.Pro800Leu)	RP1L1 (P800L)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GUncertain significance
Select item 910302	NM_178857.6(RP1L1):c.2848C>G (p.Arg950Gly)	RP1L1 (R950G)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GBenign
Select item 910301	NM_178857.6(RP1L1):c.2848C>T (p.Arg950Cys)	RP1L1 (R950C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 910234	NM_178857.6(RP1L1):c.4905C>T (p.Asp1635=)	RP1L1	Single nucleotide variant (synonymous variant)	Occult macular dystrophy +1 more	GBenign/Likely benign
Select item 910233	NM_178857.6(RP1L1):c.4971T>G (p.Cys1657Trp)	RP1L1 (C1657W)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GUncertain significance
Select item 910232	NM_178857.6(RP1L1):c.5117C>T (p.Ala1706Val)	RP1L1 (A1706V)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GLikely benign
Select item 910162	NM_178857.6(RP1L1):c.5771C>A (p.Ala1924Asp)	RP1L1 (A1924D)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 910161	NM_178857.6(RP1L1):c.5794G>A (p.Glu1932Lys)	RP1L1 (E1932K)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GBenign
Select item 910100	NM_178857.6(RP1L1):c.6429T>A (p.Pro2143=)	RP1L1	Single nucleotide variant (synonymous variant)	Occult macular dystrophy	GUncertain significance
Select item 910099	NM_178857.6(RP1L1):c.6431A>C (p.Glu2144Ala)	RP1L1 (E2144A)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GBenign
Select item 910098	NM_178857.6(RP1L1):c.6456T>G (p.Asp2152Glu)	RP1L1 (D2152E)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GUncertain significance
Select item 910097	NM_178857.6(RP1L1):c.6586A>G (p.Ile2196Val)	RP1L1 (I2196V)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GUncertain significance
Select item 910033	NM_178857.6(RP1L1):c.7097C>T (p.Ala2366Val)	RP1L1 (A2366V)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GLikely benign
Select item 910032	NM_178857.6(RP1L1):c.7143C>A (p.Leu2381=)	RP1L1	Single nucleotide variant (synonymous variant)	Occult macular dystrophy +1 more	GBenign/Likely benign
Select item 910031	NM_178857.6(RP1L1):c.7149C>A (p.Pro2383=)	RP1L1	Single nucleotide variant (synonymous variant)	Occult macular dystrophy	GUncertain significance
Select item 909668	NM_178857.6(RP1L1):c.134G>A (p.Arg45Gln)	RP1L1 (R45Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 909667	NM_178857.6(RP1L1):c.156C>T (p.Ala52=)	RP1L1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +3 more	GBenign/Likely benign
Select item 909666	NM_178857.6(RP1L1):c.166C>A (p.Arg56Ser)	RP1L1 (R56S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 909665	NM_178857.6(RP1L1):c.190C>T (p.Leu64Phe)	RP1L1 (L64F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 909659	NM_178857.6(RP1L1):c.45G>A (p.Glu15=)	RP1L1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign

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