ClinVar for Gene (Select 4308) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3183271	NM_001252024.2(TRPM1):c.133G>C (p.Ala45Pro)	TRPM1 (A45P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183269	NM_001252024.2(TRPM1):c.4289A>C (p.Glu1430Ala)	TRPM1 (E1430A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183267	NM_001252024.2(TRPM1):c.4029G>C (p.Gln1343His)	TRPM1 (Q1360H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183266	NM_001252024.2(TRPM1):c.4009C>T (p.His1337Tyr)	TRPM1 (H1337Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183264	NM_001252024.2(TRPM1):c.3431T>G (p.Met1144Arg)	LOC126862088, TRPM1 (M1122R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183263	NM_001252024.2(TRPM1):c.1933A>G (p.Lys645Glu)	TRPM1 (K623E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183262	NM_001252024.2(TRPM1):c.202A>G (p.Lys68Glu)	TRPM1 (K46E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063391	GRCh37/hg19 15q11.2-13.3(chr15:23748021-32444261)x1	APBA2, ARHGAP11B +37 more	Copy number loss	not specified	GPathogenic
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063358	GRCh37/hg19 15q13.2-13.3(chr15:30913573-32914239)x1	ARHGAP11A, ARHGAP11B +9 more	Copy number loss	not specified	GPathogenic
Select item 3063348	GRCh37/hg19 15q11.2-13.3(chr15:22770421-32446830)x3	APBA2, ARHGAP11B +42 more	Copy number gain	not specified	GPathogenic
Select item 3062003	GRCh38/hg38 15q11.2-13.3(chr15:22612582-32116118)	APBA2, ARHGAP11B +227 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 3057256	NM_001252020.2(TRPM1):c.24G>A (p.Ser8=)	TRPM1	Single nucleotide variant (synonymous variant)	TRPM1-related condition	GLikely benign
Select item 3051847	NM_001252024.2(TRPM1):c.2343C>A (p.Pro781=)	TRPM1	Single nucleotide variant (synonymous variant)	TRPM1-related condition	GLikely benign
Select item 3037051	NM_001252024.2(TRPM1):c.2085C>T (p.Ser695=)	TRPM1	Single nucleotide variant (synonymous variant)	TRPM1-related condition	GLikely benign
Select item 3035575	NM_001252020.2(TRPM1):c.-2A>G	TRPM1	Single nucleotide variant (5 prime UTR variant)	TRPM1-related condition	GLikely benign
Select item 3030674	NM_001252024.2(TRPM1):c.865T>C (p.Tyr289His)	TRPM1 (Y267H +2 more)	Single nucleotide variant (missense variant)	TRPM1-related condition	GUncertain significance
Select item 3026117	NM_001252024.2(TRPM1):c.279+5G>A	TRPM1 (R73K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3024590	GRCh37/hg19 15q13.2-13.3(chr15:30896376-32465219)x1	MTMR10, ARHGAP11B +7 more	Copy number loss	not provided	GPathogenic
Select item 3024589	GRCh37/hg19 15q13.2-13.3(chr15:30844281-32404100)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	not provided	GPathogenic
Select item 3008513	NM_001252024.2(TRPM1):c.4056A>T (p.Thr1352=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004068	NM_001252024.2(TRPM1):c.2071T>C (p.Leu691=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000748	NM_001252024.2(TRPM1):c.619-14G>A	TRPM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996938	NM_001252024.2(TRPM1):c.3128-8T>C	TRPM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995385	NM_001252024.2(TRPM1):c.2958C>T (p.Ile986=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993342	NM_001252024.2(TRPM1):c.3585G>A (p.Glu1195=)	LOC126862088, TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991676	NM_001252024.2(TRPM1):c.2043T>C (p.Ser681=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989922	NM_001252024.2(TRPM1):c.1794+8G>T	TRPM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989308	NM_001252024.2(TRPM1):c.1489G>A (p.Asp497Asn)	TRPM1 (D497N +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2988877	NM_001252024.2(TRPM1):c.279+8A>C	TRPM1 (K74T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2988022	NM_001252024.2(TRPM1):c.1438-2A>G	TRPM1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2986734	NM_001252024.2(TRPM1):c.553dup (p.Val185fs)	TRPM1 (V185fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2983931	NM_001252024.2(TRPM1):c.1166C>A (p.Thr389Lys)	TRPM1 (T367K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981280	NM_001252024.2(TRPM1):c.494-4A>C	TRPM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978712	NM_001252024.2(TRPM1):c.1438-16C>G	TRPM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978326	NM_001252024.2(TRPM1):c.813C>T (p.Leu271=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971714	NM_001252024.2(TRPM1):c.847G>T (p.Val283Leu)	TRPM1 (V261L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2970944	NM_001252024.2(TRPM1):c.965+18C>T	TRPM1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2968515	NM_001252024.2(TRPM1):c.2706C>T (p.Leu902=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968240	NM_001252024.2(TRPM1):c.3945A>G (p.Pro1315=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966831	NM_001252024.2(TRPM1):c.280-19G>A	TRPM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965538	NM_001252024.2(TRPM1):c.429G>A (p.Gly143=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965527	NM_001252024.2(TRPM1):c.1308G>A (p.Glu436=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961481	NM_001252024.2(TRPM1):c.4012C>T (p.Leu1338=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906531	NM_001252024.2(TRPM1):c.1870G>A (p.Asp624Asn)	TRPM1 (D624N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885517	NM_001252024.2(TRPM1):c.3768T>C (p.Leu1256=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880314	NM_001252024.2(TRPM1):c.3030G>A (p.Leu1010=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879584	NM_001252024.2(TRPM1):c.2088-11T>C	TRPM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879560	NM_001252024.2(TRPM1):c.1223_1224del (p.Ile408fs)	TRPM1 (I408fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2874510	NM_001252024.2(TRPM1):c.298G>A (p.Asp100Asn)	TRPM1 (D100N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874217	NM_001252024.2(TRPM1):c.2356T>C (p.Leu786=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870702	NM_001252024.2(TRPM1):c.4443T>C (p.Ser1481=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870570	NM_001252024.2(TRPM1):c.1765-10C>T	TRPM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870085	NM_001252024.2(TRPM1):c.1332C>T (p.Ala444=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868514	NM_001252024.2(TRPM1):c.1264-19T>C	TRPM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868019	NM_001252024.2(TRPM1):c.1128C>T (p.Asp376=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864492	NM_001252024.2(TRPM1):c.2439+9C>T	TRPM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858597	NM_001252024.2(TRPM1):c.84-19G>T	TRPM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2850739	NM_001252024.2(TRPM1):c.872A>T (p.Gln291Leu)	TRPM1 (Q308L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847189	NM_001252024.2(TRPM1):c.2088-10T>C	TRPM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825101	NM_001252024.2(TRPM1):c.3630-4C>T	TRPM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824090	NM_001252024.2(TRPM1):c.1158G>T (p.Leu386=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822673	NM_001252024.2(TRPM1):c.1818G>A (p.Gly606=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819060	NM_001252024.2(TRPM1):c.3556dup (p.Gln1186fs)	LOC126862088, TRPM1 (Q1164fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2818272	NM_001252024.2(TRPM1):c.4680G>A (p.Lys1560=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2816824	NM_001252024.2(TRPM1):c.790+17G>T	TRPM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816223	NM_001252024.2(TRPM1):c.2064C>T (p.Ser688=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815079	NM_001252024.2(TRPM1):c.936C>G (p.Ser312=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813998	NM_001252024.2(TRPM1):c.1624-12C>T	TRPM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2811592	NM_001252024.2(TRPM1):c.280T>C (p.Tyr94His)	TRPM1 (Y111H +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2811179	NM_001252024.2(TRPM1):c.3534T>C (p.His1178=)	LOC126862088, TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2810333	NM_001252024.2(TRPM1):c.2440-14G>T	TRPM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2806960	NM_001252024.2(TRPM1):c.2193G>A (p.Ser731=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806915	NM_001252024.2(TRPM1):c.966-1G>A	TRPM1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2805403	NM_001252024.2(TRPM1):c.582C>T (p.Gly194=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803619	NM_001252024.2(TRPM1):c.1872C>G (p.Asp624Glu)	TRPM1 (D602E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803358	NM_001252024.2(TRPM1):c.2211C>G (p.Ala737=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803305	NM_001252024.2(TRPM1):c.708T>C (p.Asn236=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797375	NM_001252024.2(TRPM1):c.3097_3104del (p.Tyr1033fs)	TRPM1 (Y1050fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2793158	NM_001252024.2(TRPM1):c.494-15A>G	TRPM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791179	NM_001252024.2(TRPM1):c.609T>C (p.Val203=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789496	NM_001252024.2(TRPM1):c.2088-3dup	TRPM1	Duplication (intron variant)	TRPM1-related condition +1 more	GBenign/Likely benign
Select item 2783019	NM_001252024.2(TRPM1):c.2871C>T (p.Ile957=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2757902	NM_001252024.2(TRPM1):c.4560T>C (p.His1520=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2756723	NM_001252024.2(TRPM1):c.1134del (p.Met379fs)	TRPM1 (M357fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2753011	NM_001252024.2(TRPM1):c.2397C>T (p.Ser799=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2742420	NM_001252024.2(TRPM1):c.1263+16T>C	TRPM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2717864	NM_001252024.2(TRPM1):c.2820A>G (p.Leu940=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2716406	NM_001252024.2(TRPM1):c.965+16C>G	TRPM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2716312	NM_001252024.2(TRPM1):c.836del (p.Gly279fs)	TRPM1 (G257fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2712783	NM_001252024.2(TRPM1):c.2385G>T (p.Ser795=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712299	NM_001252024.2(TRPM1):c.2394A>T (p.Thr798=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706972	NM_001252024.2(TRPM1):c.2501_2502del (p.Arg834fs)	TRPM1 (R812fs +2 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2693504	NM_001252024.2(TRPM1):c.2572-2A>G	TRPM1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2690935	GRCh37/hg19 15q13.2-13.3(chr15:30730511-32914199)x3	ARHGAP11A, ARHGAP11B +11 more	Copy number gain	See cases	GUncertain significance
Select item 2685505	GRCh37/hg19 15q13.3(chr15:31223642-32446830)x1	CHRNA7, FAN1 +5 more	Copy number loss	not provided	GPathogenic
Select item 2684752	GRCh37/hg19 15q13.2-13.3(chr15:30913574-32444196)x3	ARHGAP11B, CHRNA7 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684749	GRCh37/hg19 15q11.2-13.3(chr15:22770422-32915593)x3	APBA2, ARHGAP11A +45 more	Copy number gain	not provided	GPathogenic
Select item 2684748	GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3	ACTC1, APBA2 +65 more	Copy number gain	not provided	GPathogenic

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