ClinVar for MedGen (Select 355596) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2671832	NM_017662.5(TRPM6):c.3895dup (p.Ala1299fs)	TRPM6 (A1294fs +1 more)	Duplication (frameshift variant)	Intestinal hypomagnesemia 1	GLikely pathogenic
Select item 2585331	NM_017662.5(TRPM6):c.2189_2197del (p.Thr730_Trp733delinsArg)	TRPM6	Deletion (inframe_indel)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 2572490	NM_017662.5(TRPM6):c.2958del (p.Ile986fs)	TRPM6 (I981fs +1 more)	Deletion (frameshift variant)	Intestinal hypomagnesemia 1	GPathogenic
Select item 2572474	NM_017662.5(TRPM6):c.3643del (p.Ser1215fs)	TRPM6 (S1210fs +1 more)	Deletion (frameshift variant)	Intestinal hypomagnesemia 1	GPathogenic
Select item 2446430	NM_017662.5(TRPM6):c.3537-348A>G	TRPM6	Single nucleotide variant (intron variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 2437340	NM_017662.5(TRPM6):c.5218G>C (p.Val1740Leu)	TRPM6 (V1735L +1 more)	Single nucleotide variant (missense variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 2431689	NM_017662.5(TRPM6):c.5735A>G (p.Tyr1912Cys)	TRPM6 (Y1907C +1 more)	Single nucleotide variant (missense variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 1709626	NM_017662.5(TRPM6):c.3158A>G (p.Tyr1053Cys)	TRPM6 (Y1048C +1 more)	Single nucleotide variant (missense variant)	Intestinal hypomagnesemia 1	GPathogenic
Select item 1706554	NM_017662.5(TRPM6):c.756T>A (p.Asp252Glu)	TRPM6 (D247E +1 more)	Single nucleotide variant (missense variant)	Intestinal hypomagnesemia 1	GLikely pathogenic
Select item 1706553	NM_017662.5(TRPM6):c.1437C>A (p.Tyr479Ter)	TRPM6 (Y474* +1 more)	Single nucleotide variant (nonsense)	Intestinal hypomagnesemia 1	GPathogenic
Select item 1705325	NM_017662.5(TRPM6):c.1308+1G>T	TRPM6	Single nucleotide variant (splice donor variant)	Intestinal hypomagnesemia 1	GPathogenic
Select item 1646567	NM_017662.5(TRPM6):c.3094+19C>T	TRPM6	Single nucleotide variant (intron variant)	Intestinal hypomagnesemia 1 +1 more	GLikely benign
Select item 1634638	NM_017662.5(TRPM6):c.1207+18G>A	TRPM6	Single nucleotide variant (intron variant)	Intestinal hypomagnesemia 1 +1 more	GLikely benign
Select item 1617862	NM_017662.5(TRPM6):c.5415C>A (p.Ser1805=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1596183	NM_017662.5(TRPM6):c.5685C>A (p.Thr1895=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1594088	NM_017662.5(TRPM6):c.2118C>T (p.Thr706=)	TRPM6	Single nucleotide variant (synonymous variant)	Intestinal hypomagnesemia 1 +1 more	GLikely benign
Select item 1526207	NM_017662.5(TRPM6):c.2782C>T (p.Arg928Ter)	TRPM6 (R923* +1 more)	Single nucleotide variant (nonsense)	Intestinal hypomagnesemia 1	GPathogenic
Select item 1516455	NM_017662.5(TRPM6):c.4698G>T (p.Gly1566=)	TRPM6	Single nucleotide variant (synonymous variant)	Intestinal hypomagnesemia 1 +1 more	GConflicting classifications of pathogenicity
Select item 1463903	NM_017662.5(TRPM6):c.3501T>C (p.Cys1167=)	TRPM6	Single nucleotide variant (synonymous variant)	Intestinal hypomagnesemia 1 +1 more	GLikely benign
Select item 1412991	NM_017662.5(TRPM6):c.2608G>A (p.Val870Met)	TRPM6 (V870M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1402301	NM_017662.5(TRPM6):c.218C>T (p.Ala73Val)	TRPM6 (A73V +1 more)	Single nucleotide variant (missense variant)	Intestinal hypomagnesemia 1 +2 more	GUncertain significance
Select item 1387772	NM_017662.5(TRPM6):c.4519G>A (p.Ala1507Thr)	TRPM6 (A1502T +1 more)	Single nucleotide variant (missense variant)	Intestinal hypomagnesemia 1 +1 more	GUncertain significance
Select item 1325240	NM_017662.5(TRPM6):c.5314C>T (p.Arg1772Ter)	TRPM6 (R1767* +1 more)	Single nucleotide variant (nonsense)	Intestinal hypomagnesemia 1 +1 more	GPathogenic
Select item 1314306	NM_017662.5(TRPM6):c.1756T>G (p.Ser586Ala)	TRPM6 (S581A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1283302	NM_017662.5(TRPM6):c.5776+23A>G	TRPM6	Single nucleotide variant (intron variant)	Intestinal hypomagnesemia 1 +1 more	GBenign
Select item 1254396	NM_017662.5(TRPM6):c.3095-17A>T	TRPM6	Single nucleotide variant (intron variant)	Intestinal hypomagnesemia 1 +1 more	GBenign/Likely benign
Select item 1237924	NM_017662.5(TRPM6):c.1443+42A>G	TRPM6	Single nucleotide variant (intron variant)	Intestinal hypomagnesemia 1 +1 more	GBenign
Select item 1179128	NM_017662.5(TRPM6):c.3694del (p.Gln1232fs)	TRPM6 (Q1227fs +1 more)	Deletion (frameshift variant)	Intestinal hypomagnesemia 1	GPathogenic
Select item 1173101	NM_017662.5(TRPM6):c.3094+2T>C	TRPM6	Single nucleotide variant (splice donor variant)	Intestinal hypomagnesemia 1	GPathogenic
Select item 1173100	NM_017662.5(TRPM6):c.4057C>T (p.Arg1353Ter)	TRPM6 (R1348* +1 more)	Single nucleotide variant (nonsense)	Intestinal hypomagnesemia 1	GPathogenic
Select item 1098611	NM_017662.5(TRPM6):c.4355A>G (p.Tyr1452Cys)	TRPM6 (Y1447C +1 more)	Single nucleotide variant (missense variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 1064592	NM_017662.5(TRPM6):c.4710G>A (p.Trp1570Ter)	TRPM6 (W1565* +1 more)	Single nucleotide variant (nonsense)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 1064591	NM_017662.5(TRPM6):c.1308+7T>G	TRPM6	Single nucleotide variant (intron variant)	Intestinal hypomagnesemia 1	GPathogenic
Select item 1033855	NM_017662.5(TRPM6):c.1101A>C (p.Gln367His)	TRPM6 (Q362H +1 more)	Single nucleotide variant (missense variant)	Intestinal hypomagnesemia 1 +1 more	GUncertain significance
Select item 1030275	NM_017662.5(TRPM6):c.841+1G>A	TRPM6	Single nucleotide variant (splice donor variant)	Intestinal hypomagnesemia 1	GPathogenic
Select item 998083	NM_001414947.1(LOC128092252):c.187+1G>C	LOC128092252, TRPM7	Single nucleotide variant (splice donor variant)	Intestinal hypomagnesemia 1	GPathogenic
Select item 974783	NM_017672.6(TRPM7):c.3137G>A (p.Gly1046Asp)	TRPM7 (G1046D)	Single nucleotide variant (missense variant +1 more)	Intestinal hypomagnesemia 1	GPathogenic
Select item 915338	NM_017662.5(TRPM6):c.5104del (p.Ser1702fs)	TRPM6 (S1697fs +1 more)	Deletion (frameshift variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 915015	NM_017662.5(TRPM6):c.417G>T (p.Val139=)	TRPM6	Single nucleotide variant (synonymous variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 915014	NM_017662.5(TRPM6):c.622C>A (p.Pro208Thr)	TRPM6 (P208T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 915013	NM_017662.5(TRPM6):c.821C>T (p.Ser274Phe)	TRPM6 (S269F +1 more)	Single nucleotide variant (missense variant)	Intestinal hypomagnesemia 1 +1 more	GUncertain significance
Select item 915012	NM_017662.5(TRPM6):c.825G>T (p.Leu275=)	TRPM6	Single nucleotide variant (synonymous variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 915011	NM_017662.5(TRPM6):c.885C>T (p.Gly295=)	TRPM6	Single nucleotide variant (synonymous variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 914965	NM_017662.5(TRPM6):c.2724G>A (p.Glu908=)	TRPM6	Single nucleotide variant (synonymous variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 914964	NM_017662.5(TRPM6):c.2776G>A (p.Val926Ile)	TRPM6 (V926I +1 more)	Single nucleotide variant (missense variant)	Intestinal hypomagnesemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 914963	NM_017662.5(TRPM6):c.2796T>C (p.Pro932=)	TRPM6	Single nucleotide variant (synonymous variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 914917	NM_017662.5(TRPM6):c.4673-9T>G	TRPM6	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914916	NM_017662.5(TRPM6):c.4998+9A>T	TRPM6	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914865	NM_017662.5(TRPM6):c.*481A>G	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 914864	NM_017662.5(TRPM6):c.*670A>C	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GLikely benign
Select item 914863	NM_017662.5(TRPM6):c.*739G>T	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 914828	NM_017662.5(TRPM6):c.*1887G>A	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 914498	NM_017662.5(TRPM6):c.1434C>T (p.Leu478=)	TRPM6	Single nucleotide variant (synonymous variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 914455	NM_017662.5(TRPM6):c.2920-3C>T	TRPM6	Single nucleotide variant (intron variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 914454	NM_017662.5(TRPM6):c.2920A>G (p.Thr974Ala)	TRPM6 (T974A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914453	NM_017662.5(TRPM6):c.3261C>T (p.Asn1087=)	TRPM6	Single nucleotide variant (synonymous variant)	Intestinal hypomagnesemia 1 +1 more	GConflicting classifications of pathogenicity
Select item 914452	NM_017662.5(TRPM6):c.3330C>T (p.His1110=)	TRPM6	Single nucleotide variant (synonymous variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 914451	NM_017662.5(TRPM6):c.3331G>A (p.Val1111Met)	TRPM6 (V1106M +1 more)	Single nucleotide variant (missense variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 914450	NM_017662.5(TRPM6):c.3403+13A>G	TRPM6	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914406	NM_017662.5(TRPM6):c.5223C>T (p.Tyr1741=)	TRPM6	Single nucleotide variant (synonymous variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 914405	NM_017662.5(TRPM6):c.5226G>A (p.Arg1742=)	TRPM6	Single nucleotide variant (synonymous variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 914404	NM_017662.5(TRPM6):c.5339G>A (p.Arg1780His)	TRPM6 (R1780H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 914368	NM_017662.5(TRPM6):c.*746A>G	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 914367	NM_017662.5(TRPM6):c.*762A>T	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 914366	NM_017662.5(TRPM6):c.*768A>G	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 914365	NM_017662.5(TRPM6):c.*788A>T	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 914364	NM_017662.5(TRPM6):c.*806T>A	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 913379	NM_017662.5(TRPM6):c.1644G>C (p.Gln548His)	TRPM6 (Q543H +1 more)	Single nucleotide variant (missense variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 913378	NM_017662.5(TRPM6):c.1751A>G (p.His584Arg)	TRPM6 (H579R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 913377	NM_017662.5(TRPM6):c.1832T>A (p.Leu611Gln)	TRPM6 (L606Q +1 more)	Single nucleotide variant (missense variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 913376	NM_017662.5(TRPM6):c.1929C>G (p.Ile643Met)	TRPM6 (I638M +1 more)	Single nucleotide variant (missense variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 913332	NM_017662.5(TRPM6):c.3460G>A (p.Val1154Met)	TRPM6 (V1149M +1 more)	Single nucleotide variant (missense variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 913331	NM_017662.5(TRPM6):c.3486G>A (p.Met1162Ile)	TRPM6 (M1162I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 913330	NM_017662.5(TRPM6):c.3550T>C (p.Tyr1184His)	TRPM6 (Y1184H +1 more)	Single nucleotide variant (missense variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 913329	NM_017662.5(TRPM6):c.3681T>C (p.Ala1227=)	TRPM6	Single nucleotide variant (synonymous variant)	Intestinal hypomagnesemia 1 +1 more	GConflicting classifications of pathogenicity
Select item 913291	NM_017662.5(TRPM6):c.*41C>T	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 913290	NM_017662.5(TRPM6):c.*48C>T	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 913289	NM_017662.5(TRPM6):c.*61T>C	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 913288	NM_017662.5(TRPM6):c.*96C>G	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GLikely benign
Select item 913250	NM_017662.5(TRPM6):c.*919G>T	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GLikely benign
Select item 913249	NM_017662.5(TRPM6):c.*1072C>T	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 913248	NM_017662.5(TRPM6):c.*1114G>A	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 913247	NM_017662.5(TRPM6):c.*1160C>T	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GLikely benign
Select item 913058	NM_017662.5(TRPM6):c.-20G>A	TRPM6	Single nucleotide variant (5 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 913057	NM_017662.5(TRPM6):c.34-15A>T	TRPM6	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 913056	NM_017662.5(TRPM6):c.118A>T (p.Thr40Ser)	TRPM6 (T40S +1 more)	Single nucleotide variant (missense variant)	Intestinal hypomagnesemia 1 +1 more	GUncertain significance
Select item 913055	NM_017662.5(TRPM6):c.198T>C (p.Tyr66=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 913010	NM_017662.5(TRPM6):c.2066G>T (p.Arg689Leu)	TRPM6 (R684L +1 more)	Single nucleotide variant (missense variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 913009	NM_017662.5(TRPM6):c.2087C>T (p.Thr696Met)	TRPM6 (T691M +1 more)	Single nucleotide variant (missense variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 913008	NM_017662.5(TRPM6):c.2362G>A (p.Ala788Thr)	TRPM6 (A788T +1 more)	Single nucleotide variant (missense variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 912968	NM_017662.5(TRPM6):c.3863G>A (p.Gly1288Glu)	TRPM6 (G1283E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 912967	NM_017662.5(TRPM6):c.3891G>T (p.Arg1297Ser)	TRPM6 (R1297S +1 more)	Single nucleotide variant (missense variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 912966	NM_017662.5(TRPM6):c.4153G>T (p.Val1385Phe)	TRPM6 (V1380F +1 more)	Single nucleotide variant (missense variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 912965	NM_017662.5(TRPM6):c.4291C>A (p.Pro1431Thr)	TRPM6 (P1426T +1 more)	Single nucleotide variant (missense variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 912964	NM_017662.5(TRPM6):c.4508C>T (p.Ser1503Leu)	TRPM6 (S1503L +1 more)	Single nucleotide variant (missense variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 912921	NM_017662.5(TRPM6):c.*162A>G	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 912920	NM_017662.5(TRPM6):c.*180C>T	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 912919	NM_017662.5(TRPM6):c.*189G>A	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance

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