ClinVar for MedGen (Select 416373) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 173

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2137643	NM_001252024.2(TRPM1):c.2343del (p.Thr782fs)	TRPM1 (T760fs +2 more)	Deletion (frameshift variant)	Congenital stationary night blindness 1C +1 more	GPathogenic
Select item 1803190	NM_001252024.2(TRPM1):c.2860T>G (p.Cys954Gly)	TRPM1 (C932G +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 1710199	NM_001252024.2(TRPM1):c.1305_1324del (p.Glu436fs)	TRPM1 (E414fs +2 more)	Deletion (frameshift variant)	Congenital stationary night blindness 1C	GPathogenic
Select item 1486603	NM_001252024.2(TRPM1):c.3007G>A (p.Gly1003Arg)	TRPM1 (G1020R +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C +1 more	GUncertain significance
Select item 1459633	NM_001252024.2(TRPM1):c.482del (p.Gly161fs)	TRPM1 (G178fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1325239	NM_001252024.2(TRPM1):c.3496+2T>C	LOC126862088, TRPM1	Single nucleotide variant (splice donor variant)	Congenital stationary night blindness 1C	GLikely pathogenic
Select item 1325238	NM_001252024.2(TRPM1):c.3104_3105dup (p.Val1036fs)	TRPM1 (V1014fs +2 more)	Microsatellite (frameshift variant)	Congenital stationary night blindness 1C +1 more	GPathogenic/Likely pathogenic
Select item 1323717	NM_001252024.2(TRPM1):c.2013C>A (p.Tyr671Ter)	TRPM1 (Y649* +2 more)	Single nucleotide variant (nonsense)	Congenital stationary night blindness 1C	GPathogenic
Select item 1227039	NM_001252024.2(TRPM1):c.4-36G>A	TRPM1	Single nucleotide variant (intron variant)	Congenital stationary night blindness 1C +1 more	GBenign
Select item 1184564	NM_001252024.2(TRPM1):c.4842del (p.Lys1615fs)	TRPM1 (K1593fs +2 more)	Deletion (frameshift variant)	Congenital stationary night blindness 1C	GLikely pathogenic
Select item 1072860	NM_001252024.2(TRPM1):c.2543C>T (p.Ala848Val)	TRPM1 (A826V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 977607	NM_001252024.2(TRPM1):c.1623+1G>A	TRPM1	Single nucleotide variant (splice donor variant)	Congenital stationary night blindness 1C +1 more	GLikely pathogenic
Select item 931853	NM_001252024.2(TRPM1):c.4793_4796dup (p.Ser1600fs)	TRPM1 (S1617fs +2 more)	Duplication (frameshift variant)	Congenital stationary night blindness 1C	GPathogenic
Select item 888458	NM_001252024.2(TRPM1):c.*549T>C	TRPM1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1C	GBenign
Select item 888457	NM_001252024.2(TRPM1):c.*651C>T	TRPM1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 888456	NM_001252024.2(TRPM1):c.*664A>G	TRPM1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 888455	NM_001252024.2(TRPM1):c.*723T>C	TRPM1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1C	GBenign
Select item 887575	NM_001252024.2(TRPM1):c.1525A>G (p.Met509Val)	TRPM1 (M526V +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 887574	NM_001252024.2(TRPM1):c.1623+5G>A	TRPM1	Single nucleotide variant (intron variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 887513	NM_001252024.2(TRPM1):c.2440-12T>A	TRPM1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 887512	NM_001252024.2(TRPM1):c.2460C>G (p.Gly820=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 887511	NM_001252024.2(TRPM1):c.2496A>G (p.Lys832=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 887453	NM_001252024.2(TRPM1):c.386T>C (p.Leu129Pro)	TRPM1 (L107P +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 887452	NM_001252024.2(TRPM1):c.551G>A (p.Arg184Gln)	TRPM1 (R201Q +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C +1 more	GConflicting classifications of pathogenicity
Select item 887384	NM_001252024.2(TRPM1):c.1764G>C (p.Arg588Ser)	TRPM1 (R566S +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 887383	NM_001252024.2(TRPM1):c.1795-8C>G	TRPM1	Single nucleotide variant (intron variant)	Congenital stationary night blindness 1C +2 more	GConflicting classifications of pathogenicity
Select item 887382	NM_001252024.2(TRPM1):c.1890C>T (p.Phe630=)	TRPM1	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1C +2 more	GConflicting classifications of pathogenicity
Select item 887381	NM_001252024.2(TRPM1):c.2087+6T>C	TRPM1	Single nucleotide variant (intron variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 887325	NM_001252024.2(TRPM1):c.2653A>C (p.Ile885Leu)	TRPM1 (I885L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 887324	NM_001252024.2(TRPM1):c.2834A>G (p.Tyr945Cys)	TRPM1 (Y923C +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 887323	NM_001252024.2(TRPM1):c.2843A>G (p.Tyr948Cys)	TRPM1 (Y965C +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 887322	NM_001252024.2(TRPM1):c.2877C>T (p.Phe959=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 887263	NM_001252024.2(TRPM1):c.4367C>G (p.Thr1456Arg)	TRPM1 (T1473R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 887262	NM_001252024.2(TRPM1):c.4501C>T (p.Arg1501Cys)	TRPM1 (R1501C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 887261	NM_001252024.2(TRPM1):c.4502G>A (p.Arg1501His)	TRPM1 (R1501H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 886387	NM_001252024.2(TRPM1):c.2169C>T (p.Tyr723=)	TRPM1	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1C +1 more	GConflicting classifications of pathogenicity
Select item 886386	NM_001252024.2(TRPM1):c.2246C>G (p.Thr749Ser)	TRPM1 (T749S +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C +1 more	GConflicting classifications of pathogenicity
Select item 886385	NM_001252024.2(TRPM1):c.2268C>A (p.Thr756=)	TRPM1	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 886384	NM_001252024.2(TRPM1):c.2269G>A (p.Asp757Asn)	TRPM1 (D774N +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C +1 more	GUncertain significance
Select item 886332	NM_001252024.2(TRPM1):c.2888G>A (p.Arg963His)	TRPM1 (R963H +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C +1 more	GUncertain significance
Select item 886331	NM_001252024.2(TRPM1):c.2991C>T (p.Val997=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 886330	NM_001252024.2(TRPM1):c.3294-15G>A	TRPM1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 886329	NM_001252024.2(TRPM1):c.3444C>T (p.Gly1148=)	LOC126862088, TRPM1	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1C +1 more	GBenign
Select item 886328	NM_001252024.2(TRPM1):c.3533A>G (p.His1178Arg)	LOC126862088, TRPM1 (H1156R +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C +1 more	GUncertain significance
Select item 886265	NM_001252024.2(TRPM1):c.4694T>C (p.Leu1565Ser)	TRPM1 (L1543S +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 886264	NM_001252024.2(TRPM1):c.4755T>C (p.Ile1585=)	TRPM1	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1C +2 more	GConflicting classifications of pathogenicity
Select item 886263	NM_001252024.2(TRPM1):c.4812G>C (p.Val1604=)	TRPM1	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1C +1 more	GBenign
Select item 886262	NM_001252024.2(TRPM1):c.*65A>G	TRPM1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 885361	NM_001252024.2(TRPM1):c.729C>T (p.Gly243=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 885360	NM_001252024.2(TRPM1):c.795G>C (p.Leu265=)	TRPM1	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1C +2 more	GConflicting classifications of pathogenicity
Select item 885359	NM_001252024.2(TRPM1):c.1089C>T (p.Leu363=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 884490	NM_001252024.2(TRPM1):c.-143G>C	TRPM1	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital stationary night blindness 1C	GUncertain significance
Select item 884489	NM_001252024.2(TRPM1):c.-101A>G	TRPM1	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital stationary night blindness 1C	GUncertain significance
Select item 884429	NM_001252024.2(TRPM1):c.1126G>A (p.Asp376Asn)	TRPM1 (D354N +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 884428	NM_001252024.2(TRPM1):c.1255C>T (p.His419Tyr)	TRPM1 (H419Y +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 884427	NM_001252024.2(TRPM1):c.1265C>T (p.Pro422Leu)	TRPM1 (P400L +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 884361	NM_001252024.2(TRPM1):c.2285G>C (p.Arg762Thr)	TRPM1 (R779T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 884360	NM_001252024.2(TRPM1):c.2316+12G>A	TRPM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 884302	NM_001252024.2(TRPM1):c.3563A>T (p.His1188Leu)	LOC126862088, TRPM1 (H1188L +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C +1 more	GConflicting classifications of pathogenicity
Select item 884235	NM_001252024.2(TRPM1):c.*206A>G	TRPM1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1C	GLikely benign
Select item 884234	NM_001252024.2(TRPM1):c.*228C>T	TRPM1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 884233	NM_001252024.2(TRPM1):c.*229G>A	TRPM1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 884232	NM_001252024.2(TRPM1):c.*240G>T	TRPM1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 884231	NM_001252024.2(TRPM1):c.*250T>C	TRPM1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 884230	NM_001252024.2(TRPM1):c.*350C>G	TRPM1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 866089	NM_001252024.2(TRPM1):c.3187C>T (p.Arg1063Trp)	TRPM1 (R1080W +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GUncertain significance
Select item 857396	NM_001252024.2(TRPM1):c.2149G>A (p.Ala717Thr)	TRPM1 (A717T +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C +1 more	GConflicting classifications of pathogenicity
Select item 850230	NM_001252024.2(TRPM1):c.3970T>C (p.Cys1324Arg)	TRPM1 (C1302R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 850044	NM_001252024.2(TRPM1):c.2297G>A (p.Arg766Gln)	TRPM1 (R766Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 829932	NM_001252024.2(TRPM1):c.1460T>A (p.Met487Lys)	TRPM1 (M465K +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C	GLikely pathogenic
Select item 812125	NC_000015.10:g.(?_31001061)_(31161273_?)del	MIR211, TRPM1	Deletion	Congenital stationary night blindness 1C	GPathogenic
Select item 812113	NM_001252024.2(TRPM1):c.3017G>A (p.Arg1006His)	TRPM1 (R1006H +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C +1 more	GConflicting classifications of pathogenicity
Select item 778521	NM_001252024.2(TRPM1):c.4007C>T (p.Thr1336Met)	TRPM1 (T1314M +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C +1 more	GBenign
Select item 777695	NM_001252024.2(TRPM1):c.1261C>A (p.Pro421Thr)	TRPM1 (P421T +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C +1 more	GBenign
Select item 761862	NM_001252024.2(TRPM1):c.602A>T (p.Asp201Val)	TRPM1 (D179V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 729189	NM_001252024.2(TRPM1):c.1644C>T (p.Tyr548=)	TRPM1	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1C +1 more	GBenign
Select item 718357	NM_001252024.2(TRPM1):c.3907G>A (p.Glu1303Lys)	TRPM1 (E1281K +2 more)	Single nucleotide variant (missense variant)	TRPM1-related disorder +2 more	GBenign/Likely benign
Select item 714555	NM_001252024.2(TRPM1):c.4330C>G (p.Arg1444Gly)	TRPM1 (R1461G +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C +1 more	GBenign
Select item 710290	NM_001252024.2(TRPM1):c.3980G>A (p.Arg1327His)	TRPM1 (R1305H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 709475	NM_001252024.2(TRPM1):c.615G>A (p.Lys205=)	TRPM1	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1C +1 more	GBenign/Likely benign
Select item 708961	NM_001252024.2(TRPM1):c.2514C>T (p.Ile838=)	TRPM1	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1C +1 more	GConflicting classifications of pathogenicity
Select item 708603	NM_001252024.2(TRPM1):c.600A>G (p.Glu200=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 645561	NM_001252024.2(TRPM1):c.1966C>T (p.Arg656Ter)	TRPM1 (R673* +2 more)	Single nucleotide variant (nonsense)	Congenital stationary night blindness 1C +1 more	GPathogenic/Likely pathogenic
Select item 632229	NM_001252024.2(TRPM1):c.254del (p.Gly85fs)	TRPM1 (G63fs +2 more)	Deletion (frameshift variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 632228	NM_001252024.2(TRPM1):c.2317-1G>C	TRPM1	Single nucleotide variant (splice acceptor variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 632227	NM_001252024.2(TRPM1):c.2440-2A>G	TRPM1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 631727	NM_001252024.2(TRPM1):c.3148+1G>A	TRPM1	Single nucleotide variant (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 631726	NM_001252024.2(TRPM1):c.3590del (p.Gln1197fs)	LOC126862088, TRPM1 (Q1175fs +2 more)	Deletion (frameshift variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 631725	NM_001252024.2(TRPM1):c.3666dup (p.Glu1223Ter)	TRPM1 (E1223* +2 more)	Duplication (nonsense)	Congenital stationary night blindness 1C	GUncertain significance
Select item 623237	NM_001252024.2(TRPM1):c.279+147T>G	TRPM1 (Y120*)	Single nucleotide variant (nonsense +1 more)	Congenital stationary night blindness 1C	GPathogenic/Likely pathogenic
Select item 593857	NM_001252024.2(TRPM1):c.2695C>T (p.Arg899Ter)	TRPM1 (R877* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 438667	NM_001252024.2(TRPM1):c.3410G>T (p.Ser1137Ile)	LOC126862088, TRPM1 (S1115I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 438666	NM_001252024.2(TRPM1):c.282T>G (p.Tyr94Ter)	TRPM1 (Y111* +2 more)	Single nucleotide variant (nonsense)	Congenital stationary night blindness 1C	GLikely pathogenic
Select item 315541	NM_001252024.2(TRPM1):c.30C>T (p.Thr10=)	TRPM1	Single nucleotide variant (synonymous variant +1 more)	Congenital stationary night blindness 1C	GUncertain significance
Select item 315540	NM_001252024.2(TRPM1):c.68T>C (p.Met23Thr)	TRPM1 (M1T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 315539	NM_001252024.2(TRPM1):c.75C>T (p.Asp25=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 315538	NM_001252024.2(TRPM1):c.108C>A (p.Asn36Lys)	TRPM1 (N14K +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 315537	NM_001252024.2(TRPM1):c.191G>C (p.Trp64Ser)	TRPM1 (W42S +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 315536	NM_001252024.2(TRPM1):c.330G>T (p.Met110Ile)	TRPM1 (M88I +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 315535	NM_001252024.2(TRPM1):c.378T>C (p.His126=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2