"GeneDx"[submitter] AND "TRPM1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58636	GRCh38/hg38 15q13.1-13.3(chr15:28918473-32149250)x1	APBA2, ARHGAP11B +51 more	Copy number loss	See cases	GPathogenic
Select item 57600	GRCh38/hg38 15q13.1-13.3(chr15:28918473-32606466)x3	APBA2, ARHGAP11A-DT +58 more	Copy number gain	See cases	GUncertain significance
Select item 58653	GRCh38/hg38 15q13.2-13.3(chr15:30361674-31317476)x1	FAN1, ARHGAP11B +25 more	Copy number loss	See cases	GPathogenic
Select item 151931	GRCh38/hg38 15q13.3(chr15:30969632-31317417)x3	LINC02352, LINC03034 +10 more	Copy number gain	See cases	GBenign
Select item 315484	NM_001252024.2(TRPM1):c.*251A>G	TRPM1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1C +1 more	GBenign
Select item 315488	NM_001252024.2(TRPM1):c.4744G>A (p.Val1582Met)	TRPM1 (V1560M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 315490	NM_001252024.2(TRPM1):c.4560T>A (p.His1520Gln)	TRPM1 (H1498Q +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C +1 more	GBenign
Select item 315491	NM_001252024.2(TRPM1):c.4452G>A (p.Thr1484=)	TRPM1	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1C +1 more	GBenign
Select item 315496	NM_001252024.2(TRPM1):c.4249G>A (p.Val1417Ile)	TRPM1 (V1395I +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C +1 more	GBenign
Select item 449581	NM_001252024.2(TRPM1):c.4173_4176del (p.Asp1392fs)	TRPM1 (D1392fs +2 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1304131	NM_001252024.2(TRPM1):c.3763_3764del (p.Asn1255fs)	TRPM1 (N1233fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 315501	NM_001252024.2(TRPM1):c.3752A>C (p.Asn1251Thr)	TRPM1 (N1229T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1706900	NM_001252024.2(TRPM1):c.3630-200C>T	TRPM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251620	NM_001252024.2(TRPM1):c.3629+268G>C	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1303153	NM_001252024.2(TRPM1):c.3557del (p.Gln1186fs)	LOC126862088, TRPM1 (Q1164fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1178506	NM_001252024.2(TRPM1):c.3497-93G>A	LOC126862088, TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 489262	NM_001252024.2(TRPM1):c.3293+5G>A	TRPM1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1261554	NM_001252024.2(TRPM1):c.3149-24G>C	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253273	NM_001252024.2(TRPM1):c.3149-162C>T	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223156	NM_001252024.2(TRPM1):c.3148+183T>G	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225593	NM_001252024.2(TRPM1):c.3148+118G>A	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233924	NM_001252024.2(TRPM1):c.3128-248G>A	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265906	NM_001252024.2(TRPM1):c.3128-281C>T	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 290045	NM_001252024.2(TRPM1):c.3070A>T (p.Ile1024Phe)	TRPM1 (I1002F +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 167748	NM_001252024.2(TRPM1):c.3064C>T (p.Arg1022Ter)	TRPM1 (R1000* +2 more)	Single nucleotide variant (nonsense)	TRPM1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1269736	NM_001252024.2(TRPM1):c.2953-312C>G	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270102	NM_001252024.2(TRPM1):c.2952+258T>A	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1061850	NM_001252024.2(TRPM1):c.2816G>A (p.Arg939His)	TRPM1 (R917H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 431838	NM_001252024.2(TRPM1):c.2807C>A (p.Ala936Glu)	TRPM1 (A914E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620194	NM_001252024.2(TRPM1):c.2760C>G (p.Tyr920Ter)	TRPM1 (Y898* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1233797	NM_001252024.2(TRPM1):c.2700+319A>C	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297777	NM_001252024.2(TRPM1):c.2571+184C>T	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293563	NM_001252024.2(TRPM1):c.2571+161C>T	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 854110	NM_001252024.2(TRPM1):c.2557T>C (p.Phe853Leu)	TRPM1 (F870L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 315509	NM_001252024.2(TRPM1):c.2541C>T (p.Asn847=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 315511	NM_001252024.2(TRPM1):c.2406T>C (p.Asn802=)	TRPM1	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1C +1 more	GBenign
Select item 1458159	NM_001252024.2(TRPM1):c.2388T>A (p.Tyr796Ter)	TRPM1 (Y796* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 315512	NM_001252024.2(TRPM1):c.2373T>C (p.Tyr791=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1225100	NM_001252024.2(TRPM1):c.2316+123C>A	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266664	NM_001252024.2(TRPM1):c.2316+82G>T	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244715	NM_001252024.2(TRPM1):c.2088-269G>C	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237652	NM_001252024.2(TRPM1):c.2087+194T>C	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 315519	NM_001252024.2(TRPM1):c.1879G>A (p.Val627Met)	TRPM1 (V605M +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C +1 more	GBenign
Select item 1257253	NM_001252024.2(TRPM1):c.1795-238G>A	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283849	NM_001252024.2(TRPM1):c.1794+46T>C	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252603	NM_001252024.2(TRPM1):c.1765-64A>C	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236124	NM_001252024.2(TRPM1):c.1765-303C>T	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226907	NM_001252024.2(TRPM1):c.1764+265T>C	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221744	NM_001252024.2(TRPM1):c.1764+163T>G	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 315522	NM_001252024.2(TRPM1):c.1764+9C>G	TRPM1	Single nucleotide variant (intron variant)	Congenital stationary night blindness 1C +1 more	GBenign
Select item 1255151	NM_001252024.2(TRPM1):c.1624-219T>C	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 423188	NM_001252024.2(TRPM1):c.1604T>C (p.Leu535Pro)	TRPM1 (L513P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1239996	NM_001252024.2(TRPM1):c.1572+214A>G	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221772	NM_001252024.2(TRPM1):c.1572+117C>T	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261772	NM_001252024.2(TRPM1):c.1572+62G>A	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 315525	NM_001252024.2(TRPM1):c.1572+14A>G	TRPM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2444790	NM_001252024.2(TRPM1):c.1572+3G>C	TRPM1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1265027	NM_001252024.2(TRPM1):c.1438-61G>A	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266497	NM_001252024.2(TRPM1):c.1437+114T>A	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 193856	NM_001252024.2(TRPM1):c.1305G>A (p.Thr435=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1266983	NM_001252024.2(TRPM1):c.1264-35T>C	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198932	NM_001252024.2(TRPM1):c.1264-159G>A	TRPM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295657	NM_001252024.2(TRPM1):c.1264-300T>C	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1404077	NM_001252024.2(TRPM1):c.1237A>G (p.Ile413Val)	TRPM1 (I391V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1262077	NM_001252024.2(TRPM1):c.1163-38G>A	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233308	NM_001252024.2(TRPM1):c.1163-136G>A	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295685	NM_001252024.2(TRPM1):c.1162+257T>C	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236458	NM_001252024.2(TRPM1):c.1090-187dup	TRPM1	Duplication (intron variant)	not provided	GBenign
Select item 1269018	NM_001252024.2(TRPM1):c.1089+144G>T	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1004191	NM_001252024.2(TRPM1):c.965G>A (p.Gly322Glu)	TRPM1 (G300E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1272032	NM_001252024.2(TRPM1):c.791-113G>A	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270224	NM_001252024.2(TRPM1):c.791-309A>G	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264439	NM_001252024.2(TRPM1):c.790+61C>T	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1056305	NM_001252024.2(TRPM1):c.586G>A (p.Val196Met)	TRPM1 (V174M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1260419	NM_001252024.2(TRPM1):c.494-67A>C	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257799	NM_001252024.2(TRPM1):c.494-162G>A	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220888	NM_001252024.2(TRPM1):c.494-202C>T	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245163	NM_001252024.2(TRPM1):c.493+170A>T	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 6227	NM_001252024.2(TRPM1):c.362T>C (p.Leu121Pro)	TRPM1 (L99P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 863108	NM_001252024.2(TRPM1):c.281A>G (p.Tyr94Cys)	TRPM1 (Y94C +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1295702	NM_001252024.2(TRPM1):c.280-262C>T	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230022	NM_001252024.2(TRPM1):c.279+413G>A	TRPM1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 196345	NM_001252024.2(TRPM1):c.234T>C (p.Tyr78=)	TRPM1	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1C +2 more	GBenign/Likely benign
Select item 1703948	NM_001252024.2(TRPM1):c.233A>G (p.Tyr78Cys)	TRPM1 (Y56C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 196343	NM_001252024.2(TRPM1):c.161G>A (p.Ser54Asn)	TRPM1 (S32N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1314361	NM_001252024.2(TRPM1):c.112C>T (p.His38Tyr)	TRPM1 (H16Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1222701	NM_001252024.2(TRPM1):c.84-225C>T	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230717	NM_001252024.2(TRPM1):c.83+218A>G	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252792	NM_001252024.2(TRPM1):c.83+193G>C	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 315540	NM_001252024.2(TRPM1):c.68T>C (p.Met23Thr)	TRPM1 (M1T +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital stationary night blindness 1C +1 more	GBenign
Select item 1227039	NM_001252024.2(TRPM1):c.4-36G>A	TRPM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1233386	NM_001252024.2(TRPM1):c.4-71G>A	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248890	NM_001252024.2(TRPM1):c.4-170C>T	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269879	NM_001252024.2(TRPM1):c.4-230G>A	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238602	NM_001252024.2(TRPM1):c.3+313G>A	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293530	NM_001252024.2(TRPM1):c.3+38T>C	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247294	NM_001252024.2(TRPM1):c.-83-86A>G	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297790	NM_001252020.2(TRPM1):c.54+198C>T	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297789	NM_001252020.2(TRPM1):c.54+53A>G	TRPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269987	NM_001252020.2(TRPM1):c.25C>T (p.Leu9Phe)	TRPM1 (L9F)	Single nucleotide variant (missense variant)	not provided	GBenign

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