C0391816[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2200851	NM_000248.4(MITF):c.3G>A (p.Met1Ile)	LOC107988030, MITF (M1I)	Single nucleotide variant (missense variant +2 more)	Tietz syndrome +2 more	GUncertain significance
Select item 2921930	NM_000248.4(MITF):c.13dup (p.Leu5fs)	MITF (L5fs)	Duplication (intron variant +1 more)	Waardenburg syndrome type 2A +2 more	GUncertain significance
Select item 2936554	NM_000248.4(MITF):c.17A>G (p.Glu6Gly)	MITF (E6G)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 2008854	NM_000248.4(MITF):c.19T>C (p.Tyr7His)	MITF (Y7H)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 2943692	NM_000248.4(MITF):c.24T>A (p.Asn8Lys)	MITF (N8K)	Single nucleotide variant (missense variant +1 more)	Tietz syndrome +2 more	GUncertain significance
Select item 1722020	NM_000248.4(MITF):c.26A>T (p.His9Leu)	MITF (H9L)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2A +2 more	GUncertain significance
Select item 2951402	NM_000248.4(MITF):c.28T>A (p.Tyr10Asn)	MITF (Y10N)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 2071751	NM_000248.4(MITF):c.29A>G (p.Tyr10Cys)	MITF (Y10C)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 2921913	NM_000248.4(MITF):c.31C>T (p.Gln11Ter)	MITF (Q11*)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 2A +2 more	GUncertain significance
Select item 2951403	NM_000248.4(MITF):c.33_33+6del	MITF	Deletion (intron variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 2020579	NM_000248.4(MITF):c.33+2T>C	MITF	Single nucleotide variant (intron variant +1 more)	Waardenburg syndrome type 2A +2 more	GUncertain significance
Select item 545639	NM_001354604.2(MITF):c.355-1062G>C	MITF	Single nucleotide variant (intron variant)	Tietz syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2126707	NM_001354604.2(MITF):c.355-1057A>T	MITF	Single nucleotide variant (intron variant)	Tietz syndrome +2 more	GLikely benign
Select item 2953109	NM_001354604.2(MITF):c.355-1052G>A	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 2936787	NM_001354604.2(MITF):c.355-1050C>T	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 2133563	NM_001354604.2(MITF):c.355-1050C>A	MITF	Single nucleotide variant (intron variant)	Tietz syndrome +2 more	GLikely benign
Select item 2942013	NM_001354604.2(MITF):c.355-1049T>C	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 2945216	NM_001354604.2(MITF):c.355-1048C>T	MITF	Single nucleotide variant (intron variant)	Tietz syndrome +2 more	GLikely benign
Select item 2941666	NM_001354604.2(MITF):c.355-18C>T	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 2944740	NM_001354604.2(MITF):c.355-15C>T	MITF	Single nucleotide variant (intron variant)	Tietz syndrome +2 more	GLikely benign
Select item 2941080	NM_001354604.2(MITF):c.355-10_355-6del	MITF	Deletion (intron variant)	Waardenburg syndrome type 2A +2 more	GLikely benign
Select item 228856	NM_001354604.2(MITF):c.355-8A>G	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +3 more	GConflicting classifications of pathogenicity
Select item 2941542	NM_001354604.2(MITF):c.355-7T>C	MITF	Single nucleotide variant (intron variant)	Waardenburg syndrome type 2A +2 more	GLikely benign
Select item 2937479	NM_001354604.2(MITF):c.355-5T>C	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 2946800	NM_001354604.2(MITF):c.364C>A (p.His122Asn)	MITF (H105N +5 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 2922420	NM_001354604.2(MITF):c.367del (p.Leu123fs)	MITF (L123fs +5 more)	Deletion (frameshift variant)	Waardenburg syndrome type 2A +2 more	GPathogenic
Select item 226728	NM_001354604.2(MITF):c.366C>T (p.His122=)	MITF	Single nucleotide variant (synonymous variant)	Tietz syndrome +6 more	GBenign/Likely benign
Select item 1981416	NM_001354604.2(MITF):c.369C>T (p.Leu123=)	MITF	Single nucleotide variant (synonymous variant)	Waardenburg syndrome type 2A +2 more	GLikely benign
Select item 2297452	NM_001354604.2(MITF):c.370G>A (p.Glu124Lys)	MITF (E107K +5 more)	Single nucleotide variant (missense variant)	Tietz syndrome +4 more	GUncertain significance
Select item 2118428	NM_001354604.2(MITF):c.394C>G (p.Gln132Glu)	MITF (Q116E +5 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 493364	NM_001354604.2(MITF):c.394C>A (p.Gln132Lys)	MITF (Q25K +5 more)	Single nucleotide variant (missense variant)	Tietz syndrome +4 more	GUncertain significance
Select item 2127965	NM_001354604.2(MITF):c.395A>T (p.Gln132Leu)	MITF (Q132L +5 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 1712608	NM_001354604.2(MITF):c.406C>T (p.Arg136Trp)	MITF (R119W +5 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +3 more	GUncertain significance
Select item 1692272	NM_001354604.2(MITF):c.407G>A (p.Arg136Gln)	MITF (R119Q +5 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +3 more	GUncertain significance
Select item 1184722	NM_001354604.2(MITF):c.415G>A (p.Val139Ile)	MITF (V122I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 2930353	NM_001354604.2(MITF):c.422A>G (p.Gln141Arg)	MITF (Q140R +5 more)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 2947585	NM_001354604.2(MITF):c.440T>G (p.Leu147Ter)	MITF (L130* +5 more)	Single nucleotide variant (nonsense +1 more)	Tietz syndrome +2 more	GPathogenic
Select item 1986398	NM_001354604.2(MITF):c.450A>T (p.Lys150Asn)	MITF (K134N +5 more)	Single nucleotide variant (missense variant +1 more)	MITF-related condition +3 more	GUncertain significance
Select item 2922288	NM_001354604.2(MITF):c.452A>G (p.His151Arg)	MITF (H99R +5 more)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2A +2 more	GUncertain significance
Select item 1972987	NM_001354604.2(MITF):c.470G>A (p.Ser157Asn)	MITF (S140N +5 more)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 1300901	NM_001354604.2(MITF):c.471C>T (p.Ser157=)	MITF	Single nucleotide variant (synonymous variant +1 more)	Tietz syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2106619	NM_001354604.2(MITF):c.475C>T (p.Pro159Ser)	MITF (P107S +5 more)	Single nucleotide variant (missense variant +1 more)	Tietz syndrome +2 more	GUncertain significance
Select item 1311330	NM_001354604.2(MITF):c.484A>C (p.Asn162His)	MITF (N110H +5 more)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2A +3 more	GUncertain significance
Select item 1717370	NM_001354604.2(MITF):c.486C>A (p.Asn162Lys)	MITF (N110K +5 more)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2A +2 more	GUncertain significance
Select item 1929327	NM_001354604.2(MITF):c.493G>C (p.Gly165Arg)	MITF (G148R +5 more)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +3 more	GUncertain significance
Select item 1718818	NM_001354604.2(MITF):c.493G>A (p.Gly165Ser)	MITF (G113S +5 more)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2A +2 more	GUncertain significance
Select item 2070229	NM_001354604.2(MITF):c.494G>T (p.Gly165Val)	MITF (G148V +5 more)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2A +2 more	GUncertain significance
Select item 2938034	NM_001354604.2(MITF):c.495C>G (p.Gly165=)	MITF	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +3 more	GLikely benign
Select item 1197587	NM_001354604.2(MITF):c.495C>T (p.Gly165=)	MITF	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 1973997	NM_001354604.2(MITF):c.496G>A (p.Asp166Asn)	MITF (D150N +5 more)	Single nucleotide variant (missense variant +1 more)	Tietz syndrome +2 more	GUncertain significance
Select item 1717576	NM_001354604.2(MITF):c.505A>C (p.Met169Leu)	MITF (M117L +5 more)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +3 more	GUncertain significance
Select item 346494	NM_001354604.2(MITF):c.505A>G (p.Met169Val)	MITF (M62V +5 more)	Single nucleotide variant (missense variant +1 more)	Tietz syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1314673	NM_001354604.2(MITF):c.508C>A (p.Pro170Thr)	MITF (P118T +5 more)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +3 more	GUncertain significance
Select item 2948516	NM_001354604.2(MITF):c.511C>A (p.Pro171Thr)	MITF (P155T +5 more)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 1715101	NM_001354604.2(MITF):c.512C>T (p.Pro171Leu)	MITF (P119L +5 more)	Single nucleotide variant (missense variant +1 more)	Tietz syndrome +2 more	GUncertain significance
Select item 1191927	NM_001354604.2(MITF):c.513G>A (p.Pro171=)	MITF	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GLikely benign
Select item 2938245	NM_001354604.2(MITF):c.518C>T (p.Pro173Leu)	MITF (P156L +5 more)	Single nucleotide variant (missense variant +1 more)	Tietz syndrome +2 more	GUncertain significance
Select item 2037938	NM_001354604.2(MITF):c.519G>A (p.Pro173=)	MITF	Single nucleotide variant (synonymous variant +1 more)	Waardenburg syndrome type 2A +2 more	GLikely benign
Select item 1800973	NM_001354604.2(MITF):c.520G>A (p.Gly174Arg)	MITF (G122R +5 more)	Single nucleotide variant (missense variant +1 more)	Tietz syndrome +4 more	GUncertain significance
Select item 1213313	NM_001354604.2(MITF):c.528C>T (p.Ser176=)	MITF	Single nucleotide variant (synonymous variant +1 more)	Tietz syndrome +3 more	GLikely benign
Select item 1197710	NM_001354604.2(MITF):c.529G>A (p.Ala177Thr)	MITF (A125T +5 more)	Single nucleotide variant (missense variant +1 more)	Tietz syndrome +3 more	GUncertain significance
Select item 902914	NM_001354604.2(MITF):c.531A>G (p.Ala177=)	MITF	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GConflicting classifications of pathogenicity
Select item 666713	NM_001354604.2(MITF):c.537C>T (p.Asn179=)	MITF	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +4 more	GConflicting classifications of pathogenicity
Select item 1996799	NM_001354604.2(MITF):c.540C>A (p.Ser180Arg)	MITF (S179R +5 more)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 2948169	NM_001354604.2(MITF):c.543C>T (p.Pro181=)	MITF	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 2954081	NM_001354604.2(MITF):c.544A>C (p.Met182Leu)	MITF (M165L +5 more)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2A +2 more	GUncertain significance
Select item 2948336	NM_001354604.2(MITF):c.550A>C (p.Met184Leu)	MITF (M168L +5 more)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 1190933	NM_001354604.2(MITF):c.558G>A (p.Thr186=)	MITF	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 2192398	NM_001354604.2(MITF):c.564C>A (p.Asn188Lys)	MITF (N136K +5 more)	Single nucleotide variant (missense variant +1 more)	Tietz syndrome +3 more	GUncertain significance
Select item 2936683	NM_001354604.2(MITF):c.580G>A (p.Glu194Lys)	MITF (E142K +5 more)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 2114777	NM_001354604.2(MITF):c.582+8A>G	MITF	Single nucleotide variant (intron variant)	Waardenburg syndrome type 2A +2 more	GLikely benign
Select item 2930185	NM_001354604.2(MITF):c.582+10G>A	MITF	Single nucleotide variant (intron variant)	MITF-related condition +3 more	GLikely benign
Select item 1972448	NM_001354604.2(MITF):c.582+11TCTCC[4]	MITF	Microsatellite (intron variant)	Tietz syndrome +2 more	GLikely benign
Select item 1974625	NM_001354604.2(MITF):c.582+11TCTCC[2]	MITF	Microsatellite (intron variant)	Waardenburg syndrome type 2A +2 more	GLikely benign
Select item 2023837	NM_001354604.2(MITF):c.583-14_583-3del	MITF	Deletion (intron variant)	Tietz syndrome +2 more	GUncertain significance
Select item 2922218	NM_001354604.2(MITF):c.583-20T>A	MITF	Single nucleotide variant (intron variant)	Waardenburg syndrome type 2A +2 more	GLikely benign
Select item 2947753	NM_001354604.2(MITF):c.583-16G>T	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 2939690	NM_001354604.2(MITF):c.583-16G>C	MITF	Single nucleotide variant (intron variant)	Waardenburg syndrome type 2A +2 more	GLikely benign
Select item 2944494	NM_001354604.2(MITF):c.583-14T>A	MITF	Single nucleotide variant (intron variant)	Tietz syndrome +2 more	GUncertain significance
Select item 1337965	NM_001354604.2(MITF):c.583-9T>C	MITF	Single nucleotide variant (intron variant)	MITF-related condition +5 more	GConflicting classifications of pathogenicity
Select item 2951040	NM_001354604.2(MITF):c.583-4G>A	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GLikely benign
Select item 1994531	NM_001354604.2(MITF):c.583-3C>T	MITF	Single nucleotide variant (intron variant)	Waardenburg syndrome type 2A +2 more	GUncertain significance
Select item 2497860	NM_001354604.2(MITF):c.589T>G (p.Tyr197Asp)	MITF (Y145D +6 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1713542	NM_001354604.2(MITF):c.593A>T (p.Lys198Met)	MITF (K146M +6 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 2946571	NM_001354604.2(MITF):c.598G>A (p.Glu200Lys)	MITF (E37K +6 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 2943987	NM_001354604.2(MITF):c.607A>G (p.Asn203Asp)	MITF (N40D +6 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 2921518	NM_001354604.2(MITF):c.610A>G (p.Arg204Gly)	MITF (R187G +6 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GUncertain significance
Select item 1913431	NM_001354604.2(MITF):c.613G>A (p.Ala205Thr)	MITF (A204T +6 more)	Single nucleotide variant (missense variant)	Tietz syndrome +2 more	GUncertain significance
Select item 1217664	NM_001354604.2(MITF):c.622G>A (p.Glu208Lys)	MITF (E101K +6 more)	Single nucleotide variant (missense variant)	Tietz syndrome +4 more	GUncertain significance
Select item 227546	NM_001354604.2(MITF):c.623A>G (p.Glu208Gly)	MITF (E101G +6 more)	Single nucleotide variant (missense variant)	MITF-related condition +5 more	GLikely benign
Select item 2938469	NM_001354604.2(MITF):c.624G>A (p.Glu208=)	MITF	Single nucleotide variant (synonymous variant)	Tietz syndrome +2 more	GLikely benign
Select item 2946809	NM_001354604.2(MITF):c.627C>T (p.Cys209=)	MITF	Single nucleotide variant (synonymous variant)	Tietz syndrome +2 more	GLikely benign
Select item 2921912	NM_001354604.2(MITF):c.632G>T (p.Gly211Val)	MITF (G159V +6 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 2A +2 more	GUncertain significance
Select item 1203392	NM_001354604.2(MITF):c.632G>A (p.Gly211Asp)	MITF (G104D +6 more)	Single nucleotide variant (missense variant)	Tietz syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2024980	NM_001354604.2(MITF):c.643_644dup (p.Ser216fs)	MITF (S216fs +6 more)	Microsatellite (frameshift variant)	Tietz syndrome +2 more	GPathogenic
Select item 666859	NM_001354604.2(MITF):c.639C>G (p.Asn213Lys)	MITF (N106K +6 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 499959	NM_001354604.2(MITF):c.639C>T (p.Asn213=)	MITF	Single nucleotide variant (synonymous variant)	Tietz syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1311265	NM_001354604.2(MITF):c.640A>T (p.Thr214Ser)	MITF (T107S +6 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 2A +3 more	GUncertain significance
Select item 346495	NM_001354604.2(MITF):c.644A>T (p.His215Leu)	MITF (H108L +6 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 488040	NM_001354604.2(MITF):c.649C>T (p.Arg217Ter)	MITF (R110* +6 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic

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