ClinVar for Gene (Select 140803) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 659

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360003	NM_017662.5(TRPM6):c.1725A>T (p.Lys575Asn)	TRPM6 (K570N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3357083	NM_017662.5(TRPM6):c.33+172A>G	TRPM6	Single nucleotide variant (5 prime UTR variant +1 more)	TRPM6-related disorder	GLikely benign
Select item 3348033	NM_017662.5(TRPM6):c.3093T>C (p.Asp1031=)	TRPM6	Single nucleotide variant (synonymous variant)	TRPM6-related disorder	GLikely benign
Select item 3337695	NM_017662.5(TRPM6):c.4042C>T (p.Pro1348Ser)	TRPM6 (P1343S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336303	NM_017662.5(TRPM6):c.219C>G (p.Ala73=)	TRPM6	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3336224	NM_017662.5(TRPM6):c.5107C>T (p.Pro1703Ser)	TRPM6 (P1698S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329294	NM_017662.5(TRPM6):c.2542G>A (p.Ala848Thr)	TRPM6 (A848T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329293	NM_017662.5(TRPM6):c.25C>T (p.Arg9Cys)	TRPM6 (R9C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329291	NM_017662.5(TRPM6):c.5242C>G (p.Pro1748Ala)	TRPM6 (P1748A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329290	NM_017662.5(TRPM6):c.205A>G (p.Thr69Ala)	TRPM6 (T64A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329289	NM_017662.5(TRPM6):c.3262C>T (p.Arg1088Cys)	TRPM6 (R1088C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329288	NM_017662.5(TRPM6):c.2576C>G (p.Thr859Ser)	TRPM6 (T859S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329287	NM_017662.5(TRPM6):c.604A>G (p.Ile202Val)	TRPM6 (I197V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329286	NM_017662.5(TRPM6):c.3854G>C (p.Ser1285Thr)	TRPM6 (S1285T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329285	NM_017662.5(TRPM6):c.4262A>G (p.Glu1421Gly)	TRPM6 (E1416G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329284	NM_017662.5(TRPM6):c.4261G>A (p.Glu1421Lys)	TRPM6 (E1421K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329283	NM_017662.5(TRPM6):c.4222G>A (p.Glu1408Lys)	TRPM6 (E1403K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329281	NM_017662.5(TRPM6):c.5552C>G (p.Thr1851Ser)	TRPM6 (T1846S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3245356	NC_000009.11:g.(?_77390779)_(77397789_?)del	TRPM6	Deletion	not provided	GPathogenic
Select item 3183404	NM_017662.5(TRPM6):c.6008C>T (p.Ala2003Val)	TRPM6 (A2003V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183403	NM_017662.5(TRPM6):c.5999T>C (p.Ile2000Thr)	TRPM6 (I2000T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183402	NM_017662.5(TRPM6):c.5917C>T (p.Arg1973Trp)	TRPM6 (R1968W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183401	NM_017662.5(TRPM6):c.5651G>A (p.Arg1884Gln)	TRPM6 (R1879Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183399	NM_017662.5(TRPM6):c.5384T>G (p.Leu1795Arg)	TRPM6 (L1795R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183398	NM_017662.5(TRPM6):c.5291C>T (p.Ala1764Val)	TRPM6 (A1764V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183396	NM_017662.5(TRPM6):c.5096C>G (p.Ser1699Cys)	TRPM6 (S1694C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183395	NM_017662.5(TRPM6):c.4973G>T (p.Ser1658Ile)	TRPM6 (S1653I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183393	NM_017662.5(TRPM6):c.4367C>T (p.Ala1456Val)	TRPM6 (A1456V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183392	NM_017662.5(TRPM6):c.4192G>A (p.Ala1398Thr)	TRPM6 (A1398T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183390	NM_017662.5(TRPM6):c.3395T>A (p.Val1132Asp)	TRPM6 (V1132D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183389	NM_017662.5(TRPM6):c.326C>T (p.Ala109Val)	TRPM6 (A104V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183388	NM_017662.5(TRPM6):c.3268C>T (p.Arg1090Cys)	TRPM6 (R1085C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183387	NM_017662.5(TRPM6):c.3210C>T (p.Asn1070=)	TRPM6	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3183386	NM_017662.5(TRPM6):c.3181A>T (p.Met1061Leu)	TRPM6 (M1056L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183385	NM_017662.5(TRPM6):c.2855G>A (p.Arg952Gln)	TRPM6 (R947Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183384	NM_017662.5(TRPM6):c.2486G>A (p.Arg829Lys)	TRPM6 (R829K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183383	NM_017662.5(TRPM6):c.1873A>G (p.Met625Val)	TRPM6 (M625V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183382	NM_017662.5(TRPM6):c.170T>A (p.Leu57Gln)	TRPM6 (L52Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183381	NM_017662.5(TRPM6):c.1685C>A (p.Thr562Lys)	TRPM6 (T562K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183380	NM_017662.5(TRPM6):c.1576C>T (p.Arg526Cys)	TRPM6 (R521C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183379	NM_017662.5(TRPM6):c.1442C>A (p.Thr481Lys)	TRPM6 (T476K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183378	NM_017662.5(TRPM6):c.1355G>A (p.Arg452Gln)	TRPM6 (R447Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183377	NM_017662.5(TRPM6):c.1093C>A (p.Leu365Ile)	TRPM6 (L365I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068168	NM_017662.5(TRPM6):c.2998dup (p.Ser1000fs)	TRPM6 (S1000fs +1 more)	Duplication (frameshift variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 3065842	NM_017662.5(TRPM6):c.584C>G (p.Ser195Cys)	TRPM6 (S190C +1 more)	Single nucleotide variant (missense variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 3063084	GRCh37/hg19 9q21.13(chr9:76897502-78586137)x3	C9orf40, CARNMT1 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3061452	NM_017662.5(TRPM6):c.3150A>G (p.Gln1050=)	TRPM6	Single nucleotide variant (synonymous variant)	TRPM6-related disorder	GUncertain significance
Select item 3033639	NM_017662.5(TRPM6):c.2835C>T (p.Asp945=)	TRPM6	Single nucleotide variant (synonymous variant)	TRPM6-related disorder	GLikely benign
Select item 3009501	NM_017662.5(TRPM6):c.1392G>T (p.Val464=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009285	NM_017662.5(TRPM6):c.5084-12C>T	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005647	NM_017662.5(TRPM6):c.4866C>T (p.Tyr1622=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993110	NM_017662.5(TRPM6):c.5201-15C>A	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986697	NM_017662.5(TRPM6):c.2351G>A (p.Ser784Asn)	TRPM6 (S779N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983296	NM_017662.5(TRPM6):c.1497+20G>A	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983212	NM_017662.5(TRPM6):c.5936-15T>G	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982371	NM_017662.5(TRPM6):c.3404-4A>G	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982018	NM_017662.5(TRPM6):c.5346T>C (p.Ala1782=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981886	NM_017662.5(TRPM6):c.3042A>G (p.Val1014=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981243	NM_017662.5(TRPM6):c.2088G>A (p.Thr696=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979273	NM_017662.5(TRPM6):c.4851C>A (p.Ile1617=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976732	NM_017662.5(TRPM6):c.33+17C>G	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975162	NM_017662.5(TRPM6):c.2668-19T>C	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974880	NM_017662.5(TRPM6):c.3352C>T (p.Leu1118=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966046	NM_017662.5(TRPM6):c.3015A>G (p.Pro1005=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958167	NM_017662.5(TRPM6):c.1497+19C>A	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957174	NM_017662.5(TRPM6):c.2415C>T (p.Gly805=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955589	NM_017662.5(TRPM6):c.5057+16T>C	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954853	NM_017662.5(TRPM6):c.234T>C (p.Ser78=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917767	NM_017662.5(TRPM6):c.1923G>A (p.Ala641=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916317	NM_017662.5(TRPM6):c.3213C>T (p.Asn1071=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913330	NM_017662.5(TRPM6):c.966G>A (p.Ala322=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912453	NM_017662.5(TRPM6):c.741C>T (p.His247=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912452	NM_017662.5(TRPM6):c.5058-8del	TRPM6	Deletion (intron variant)	not provided	GBenign
Select item 2905411	NM_017662.5(TRPM6):c.1677A>C (p.Ala559=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904438	NM_017662.5(TRPM6):c.1464A>G (p.Thr488=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903822	NM_017662.5(TRPM6):c.2775C>T (p.Phe925=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900038	NM_017662.5(TRPM6):c.4456C>A (p.Arg1486=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885408	NM_017662.5(TRPM6):c.2239-10dup	TRPM6	Duplication (intron variant)	not provided	GBenign
Select item 2872707	NM_017662.5(TRPM6):c.1282_1283del (p.Ile428fs)	TRPM6 (I423fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2821217	NM_017662.5(TRPM6):c.34-8C>A	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818528	NM_017662.5(TRPM6):c.5971A>G (p.Asn1991Asp)	TRPM6 (N1986D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812836	NM_017662.5(TRPM6):c.4828C>T (p.Pro1610Ser)	TRPM6 (P1605S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805402	NM_017662.5(TRPM6):c.5057+7A>G	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798595	NM_017662.5(TRPM6):c.2392-4A>G	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797556	NM_017662.5(TRPM6):c.5488-20C>G	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788745	NM_017662.5(TRPM6):c.1498-19T>G	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781792	NM_017662.5(TRPM6):c.3404-8_3404-7dup	TRPM6	Duplication (intron variant)	not provided	GLikely benign
Select item 2780001	NM_017662.5(TRPM6):c.3856C>T (p.Leu1286=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2775755	NM_017662.5(TRPM6):c.5058-8T>C	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2769648	NM_017662.5(TRPM6):c.330+1G>A	TRPM6	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2721248	NM_017662.5(TRPM6):c.5860T>C (p.Leu1954=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719649	NM_017662.5(TRPM6):c.5155A>C (p.Met1719Leu)	TRPM6 (M1719L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713700	NM_017662.5(TRPM6):c.3066C>T (p.Tyr1022=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706706	NM_017662.5(TRPM6):c.3753C>T (p.His1251=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706218	NM_017662.5(TRPM6):c.5925C>T (p.Leu1975=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2703586	NM_017662.5(TRPM6):c.670-9G>A	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2697178	NM_017662.5(TRPM6):c.516G>A (p.Ala172=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2695245	NM_017662.5(TRPM6):c.4494C>A (p.Ser1498=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685353	GRCh37/hg19 9q21.13(chr9:77237003-77546297)x1	RORB, TRPM6	Copy number loss	not provided	GLikely pathogenic

<< First< Prev

Page of 7