ClinVar for MedGen (Select 98213) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3763720	NM_001354604.2(MITF):c.631G>T (p.Gly211Cys)	MITF (G104C +6 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3763703	NM_001354604.2(MITF):c.1037T>C (p.Met346Thr)	MITF (M177T +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3763403	NM_001354604.2(MITF):c.1109G>A (p.Arg370His)	MITF (R201H +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3763123	NM_001354604.2(MITF):c.1412A>G (p.Tyr471Cys)	MITF (Y302C +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3762900	NM_001354604.2(MITF):c.1289A>G (p.Asn430Ser)	MITF (N261S +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3762550	NM_001354604.2(MITF):c.805G>A (p.Gly269Ser)	MITF (G106S +6 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3762533	NM_001354604.2(MITF):c.707G>A (p.Ser236Asn)	MITF (S129N +6 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3762322	NM_001354604.2(MITF):c.987C>T (p.Asp329=)	MITF	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 3760389	NM_001354604.2(MITF):c.955+10T>A	MITF	Single nucleotide variant (intron variant)	Tietz syndrome +2 more	GLikely benign
Select item 3760384	NM_001354604.2(MITF):c.582+14C>T	MITF	Single nucleotide variant (intron variant)	Tietz syndrome +2 more	GLikely benign
Select item 3760181	NM_001354604.2(MITF):c.1132C>T (p.Gln378Ter)	MITF (Q209* +9 more)	Single nucleotide variant (nonsense)	Tietz syndrome +2 more	GPathogenic
Select item 3760007	NM_001354604.2(MITF):c.594G>T (p.Lys198Asn)	MITF (K146N +6 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 3759982	NM_001354604.2(MITF):c.587T>C (p.Phe196Ser)	MITF (F144S +6 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 3759605	NM_001354604.2(MITF):c.795T>A (p.Tyr265Ter)	MITF (Y102* +6 more)	Single nucleotide variant (nonsense)	Tietz syndrome +2 more	GPathogenic
Select item 3759460	NM_001354604.2(MITF):c.1485C>A (p.Val495=)	MITF	Single nucleotide variant (synonymous variant)	Tietz syndrome +2 more	GLikely benign
Select item 3759334	NM_001354604.2(MITF):c.582+20C>T	MITF	Single nucleotide variant (intron variant)	Tietz syndrome +2 more	GLikely benign
Select item 3759072	NM_001354604.2(MITF):c.1466C>T (p.Thr489Ile)	MITF (T320I +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 3758923	NM_001354604.2(MITF):c.1024A>G (p.Asn342Asp)	MITF (N173D +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 3758686	NM_001354604.2(MITF):c.787G>A (p.Asp263Asn)	MITF (D100N +6 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 3758685	NM_001354604.2(MITF):c.681C>G (p.Ile227Met)	MITF (I120M +6 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 3758544	NM_001354604.2(MITF):c.1298A>C (p.Gln433Pro)	MITF (Q264P +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 3758543	NM_001354604.2(MITF):c.1220T>C (p.Ile407Thr)	MITF (I238T +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 3758383	NM_001354604.2(MITF):c.418A>G (p.Lys140Glu)	MITF (K123E +5 more)	Single nucleotide variant (missense variant +1 more)	Tietz syndrome +2 more	GUncertain significance
Select item 3758381	NM_001354604.2(MITF):c.1135A>G (p.Lys379Glu)	MITF (K210E +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 3758377	NM_001354604.2(MITF):c.913G>A (p.Ala305Thr)	MITF (A136T +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 3758375	NM_001354604.2(MITF):c.1318G>A (p.Ala440Thr)	MITF (A271T +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 3758371	NM_001354604.2(MITF):c.1321G>T (p.Asp441Tyr)	MITF (D272Y +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 3758370	NM_001354604.2(MITF):c.1496T>C (p.Leu499Pro)	MITF (L330P +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 3758226	NM_001354604.2(MITF):c.1337C>A (p.Thr446Lys)	MITF (T277K +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 3758225	NM_001354604.2(MITF):c.1323C>G (p.Asp441Glu)	MITF (D383E +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 3758224	NM_001354604.2(MITF):c.737A>T (p.Asp246Val)	MITF (D139V +6 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 3758223	NM_001354604.2(MITF):c.942C>A (p.Asp314Glu)	MITF (D145E +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 3758222	NM_001354604.2(MITF):c.1219A>C (p.Ile407Leu)	MITF (I238L +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 3758219	NM_001354604.2(MITF):c.845C>T (p.Pro282Leu)	MITF (P119L +6 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 3758218	NM_001354604.2(MITF):c.1474C>G (p.Pro492Ala)	MITF (P323A +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 3758050	NM_001354604.2(MITF):c.715G>A (p.Glu239Lys)	MITF (E132K +6 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 3758012	NM_001354604.2(MITF):c.666G>A (p.Gln222=)	MITF	Single nucleotide variant (synonymous variant)	Tietz syndrome +2 more	GUncertain significance
Select item 3758002	NM_001354604.2(MITF):c.1148A>T (p.His383Leu)	MITF (H214L +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 3757997	NM_001354604.2(MITF):c.1458G>C (p.Met486Ile)	MITF (M317I +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 3757969	NM_001354604.2(MITF):c.491del (p.Pro164fs)	MITF (P112fs +5 more)	Deletion (frameshift variant +1 more)	Tietz syndrome +2 more	GPathogenic
Select item 3757728	NM_001354604.2(MITF):c.1226C>T (p.Ser409Phe)	MITF (S240F +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 3757655	NM_001354604.2(MITF):c.1323C>T (p.Asp441=)	MITF	Single nucleotide variant (synonymous variant)	Tietz syndrome +2 more	GLikely benign
Select item 3757627	NM_001354604.2(MITF):c.870G>A (p.Arg290=)	MITF	Single nucleotide variant (synonymous variant)	Tietz syndrome +2 more	GLikely benign
Select item 3757480	NM_001354604.2(MITF):c.1112_1113dup (p.Lys372fs)	MITF (K203fs +9 more)	Duplication (frameshift variant)	Tietz syndrome +2 more	GPathogenic
Select item 3757467	NM_001354604.2(MITF):c.617A>T (p.Glu206Val)	MITF (E154V +6 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 3757464	NM_001354604.2(MITF):c.474G>C (p.Leu158Phe)	MITF (L106F +5 more)	Single nucleotide variant (missense variant +1 more)	Tietz syndrome +2 more	GUncertain significance
Select item 3757463	NM_001354604.2(MITF):c.1249T>G (p.Leu417Val)	MITF (L248V +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 3757375	NM_000248.4(MITF):c.2T>C (p.Met1Thr)	LOC107988030, MITF (M1T)	Single nucleotide variant (missense variant +2 more)	Tietz syndrome +2 more	GUncertain significance
Select item 3757344	NM_001354604.2(MITF):c.1199G>T (p.Arg400Leu)	MITF (R231L +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 3757208	NM_001354604.2(MITF):c.1127A>G (p.Asn376Ser)	MITF (N207S +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3757050	NM_001354604.2(MITF):c.1065A>G (p.Lys355=)	MITF	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 3756991	NM_001354604.2(MITF):c.1032-5C>G	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 3756904	NM_001354604.2(MITF):c.486C>T (p.Asn162=)	MITF	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 3756903	NM_001354604.2(MITF):c.1481G>T (p.Gly494Val)	MITF (G325V +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3756879	NM_001354604.2(MITF):c.763-18C>T	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 3756877	NM_001354604.2(MITF):c.1321G>C (p.Asp441His)	MITF (D272H +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3756848	NM_001354604.2(MITF):c.668T>G (p.Met223Arg)	MITF (M116R +6 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3756826	NM_001354604.2(MITF):c.1106A>T (p.Gln369Leu)	MITF (Q200L +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3756790	NM_001354604.2(MITF):c.1449C>T (p.Asp483=)	MITF	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 3756787	NM_001354604.2(MITF):c.646T>A (p.Ser216Thr)	MITF (S109T +6 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3756754	NM_001354604.2(MITF):c.802C>G (p.Gln268Glu)	MITF (Q105E +6 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3756753	NM_001354604.2(MITF):c.839C>G (p.Ser280Cys)	MITF (S117C +6 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3756646	NM_001354604.2(MITF):c.775G>A (p.Gly259Arg)	MITF (G152R +6 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3756640	NM_001354604.2(MITF):c.1297C>G (p.Gln433Glu)	MITF (Q264E +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3756606	NM_001354604.2(MITF):c.1344C>A (p.Leu448=)	MITF	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 3756441	NM_001354604.2(MITF):c.1127A>C (p.Asn376Thr)	MITF (N207T +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3756218	NM_001354604.2(MITF):c.583-10G>T	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 3756179	NM_001354604.2(MITF):c.639C>A (p.Asn213Lys)	MITF (N106K +6 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3756128	NM_001354604.2(MITF):c.1032-4G>C	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 3756050	NM_001354604.2(MITF):c.1032A>G (p.Pro344=)	MITF	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3755923	NM_001354604.2(MITF):c.1179+2T>C	MITF	Single nucleotide variant (splice donor variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GPathogenic
Select item 3755922	NM_001354604.2(MITF):c.915A>G (p.Ala305=)	MITF	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 3755921	NM_001354604.2(MITF):c.675T>C (p.Asp225=)	MITF	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 3755903	NM_001354604.2(MITF):c.1522T>G (p.Ser508Ala)	MITF (S339A +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3755855	NM_001354604.2(MITF):c.1032-18C>T	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 3755836	NM_001354604.2(MITF):c.1533C>G (p.Ser511Arg)	MITF (S342R +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3755751	NM_001354604.2(MITF):c.1105C>G (p.Gln369Glu)	MITF (Q200E +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3755739	NM_001354604.2(MITF):c.940G>T (p.Asp314Tyr)	MITF (D145Y +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3755716	NM_001354604.2(MITF):c.392T>C (p.Ile131Thr)	MITF (I114T +5 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3755692	NM_001354604.2(MITF):c.673G>T (p.Asp225Tyr)	MITF (D118Y +6 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3755670	NM_001354604.2(MITF):c.1342C>G (p.Leu448Val)	MITF (L279V +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3755665	NM_001354604.2(MITF):c.956-4G>C	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 3755661	NM_001354604.2(MITF):c.582+8A>T	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 3755637	NM_001354604.2(MITF):c.880+3A>G	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3755564	NM_001354604.2(MITF):c.1429A>G (p.Met477Val)	MITF (M308V +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3755518	NM_001354604.2(MITF):c.752T>C (p.Met251Thr)	MITF (M144T +6 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3755480	NM_001354604.2(MITF):c.1220T>G (p.Ile407Ser)	MITF (I238S +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3755317	NM_001354604.2(MITF):c.1185_1197dup (p.Arg400Ter)	MITF (R231* +9 more)	Duplication (nonsense)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GPathogenic
Select item 3755287	NM_001354604.2(MITF):c.1340C>T (p.Thr447Ile)	MITF (T278I +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3755279	NM_001354604.2(MITF):c.881-12T>A	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 3755254	NM_001354604.2(MITF):c.1433G>T (p.Gly478Val)	MITF (G309V +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3755219	NM_001354604.2(MITF):c.1177_1178del (p.Gln393fs)	MITF (Q224fs +9 more)	Deletion (frameshift variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GPathogenic
Select item 3755207	NM_001354604.2(MITF):c.564C>T (p.Asn188=)	MITF	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 3755206	NM_001354604.2(MITF):c.1260G>C (p.Arg420=)	MITF	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 3755174	NM_001354604.2(MITF):c.1195G>A (p.Ala399Thr)	MITF (A230T +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3755072	NM_001354604.2(MITF):c.1460A>G (p.Asp487Gly)	MITF (D318G +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3755071	NM_001354604.2(MITF):c.1004G>A (p.Gly335Asp)	MITF (G166D +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3754955	NM_001354604.2(MITF):c.592A>G (p.Lys198Glu)	MITF (K146E +6 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3754884	NM_001354604.2(MITF):c.1358G>A (p.Gly453Asp)	MITF (G284D +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 3754852	NM_001354604.2(MITF):c.629C>G (p.Pro210Arg)	MITF (P103R +6 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance

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