"GeneDx"[submitter] AND "MITF"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57772	GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1	ADAMTS9-AS2, ARL6IP5 +234 more	Copy number loss	See cases	GPathogenic
Select item 1294117	NC_000003.12:g.69739170A>G	LOC107988042, MITF	Single nucleotide variant	not provided	GBenign
Select item 1195048	NM_001354604.2(MITF):c.104+68C>G	MITF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197772	NM_001354604.2(MITF):c.104+244C>A	MITF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669675	NM_001354604.2(MITF):c.104+23992G>T	MITF	Single nucleotide variant (intron variant +1 more)	not provided	GBenign/Likely benign
Select item 1291113	NM_001354604.2(MITF):c.104+24051C>T	MITF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678627	NM_001354604.2(MITF):c.246G>A (p.Ala82=)	MITF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 805006	NM_001354604.2(MITF):c.316C>T (p.Leu106Phe)	MITF (L54F +4 more)	Single nucleotide variant (missense variant)	MITF-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 226727	NM_001354604.2(MITF):c.330G>A (p.Thr110=)	MITF	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GBenign
Select item 679757	NM_001354604.2(MITF):c.354+143G>A	MITF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245479	NM_001354604.2(MITF):c.354+297A>G	MITF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249722	NM_001354604.2(MITF):c.354+327T>C	MITF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 346493	NM_001354604.2(MITF):c.355-1135G>A	LOC107988030, MITF	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 1200810	NM_001354604.2(MITF):c.355-1127C>T	LOC107988030, MITF	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 679027	NM_001354604.2(MITF):c.355-1113C>T	LOC107988030, MITF	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 2200851	NM_000248.4(MITF):c.3G>A (p.Met1Ile)	LOC107988030, MITF (M1I)	Single nucleotide variant (missense variant +2 more)	Tietz syndrome +3 more	GUncertain significance
Select item 2008854	NM_000248.4(MITF):c.19T>C (p.Tyr7His)	MITF (Y7H)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2A +3 more	GUncertain significance
Select item 1270662	NM_001354604.2(MITF):c.355-857dup	MITF	Duplication (intron variant)	not provided	GBenign
Select item 677844	NM_001354604.2(MITF):c.355-829A>G	MITF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677773	NM_001354604.2(MITF):c.355-194A>C	MITF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 226728	NM_001354604.2(MITF):c.366C>T (p.His122=)	MITF	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 2297452	NM_001354604.2(MITF):c.370G>A (p.Glu124Lys)	MITF (E107K +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1315063	NM_001354604.2(MITF):c.384G>A (p.Lys128=)	MITF	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2118428	NM_001354604.2(MITF):c.394C>G (p.Gln132Glu)	MITF (Q116E +5 more)	Single nucleotide variant (missense variant)	Tietz syndrome +3 more	GUncertain significance
Select item 493364	NM_001354604.2(MITF):c.394C>A (p.Gln132Lys)	MITF (Q25K +5 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +4 more	GUncertain significance
Select item 1712608	NM_001354604.2(MITF):c.406C>T (p.Arg136Trp)	MITF (R119W +5 more)	Single nucleotide variant (missense variant)	Tietz syndrome +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 1986398	NM_001354604.2(MITF):c.450A>T (p.Lys150Asn)	MITF (K134N +5 more)	Single nucleotide variant (missense variant +1 more)	MITF-related disorder +4 more	GUncertain significance
Select item 1313718	NM_001354604.2(MITF):c.451C>T (p.His151Tyr)	MITF (H134Y +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369506	NM_001354604.2(MITF):c.454G>A (p.Ala152Thr)	MITF (A100T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1300901	NM_001354604.2(MITF):c.471C>T (p.Ser157=)	MITF	Single nucleotide variant (synonymous variant +1 more)	Waardenburg syndrome type 2A +3 more	GConflicting classifications of pathogenicity
Select item 2662285	NM_001354604.2(MITF):c.483A>T (p.Pro161=)	MITF	Single nucleotide variant (synonymous variant +1 more)	not provided	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)	Melanoma, cutaneous malignant, susceptibility to, 8 +3 more	GUncertain significance
Select item 2661923	NM_001354604.2(MITF):c.488A>C (p.Gln163Pro)	MITF (Q111P +5 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 3340706	NM_001354604.2(MITF):c.490C>T (p.Pro164Ser)	MITF (P112S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	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)	Waardenburg syndrome type 2A +3 more	GUncertain significance
Select item 1197587	NM_001354604.2(MITF):c.495C>T (p.Gly165=)	MITF	Single nucleotide variant (synonymous variant +1 more)	Tietz syndrome +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)	not provided +3 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 +5 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)	not provided +3 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 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)	not provided +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 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 1190933	NM_001354604.2(MITF):c.558G>A (p.Thr186=)	MITF	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +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)	not provided +3 more	GUncertain significance
Select item 676892	NM_001354604.2(MITF):c.582+126C>T	MITF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679765	NM_001354604.2(MITF):c.582+280C>T	MITF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679775	NM_001354604.2(MITF):c.582+491G>A	MITF	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 679720	NM_001354604.2(MITF):c.582+507C>T	MITF	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1337965	NM_001354604.2(MITF):c.583-9T>C	MITF	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1305842	NM_001354604.2(MITF):c.583-3C>A	MITF	Single nucleotide variant (intron variant)	not provided	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 3340808	NM_001354604.2(MITF):c.605A>C (p.Gln202Pro)	MITF (Q150P +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327872	NM_001354604.2(MITF):c.619A>G (p.Ser207Gly)	MITF (S100G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342408	NM_001354604.2(MITF):c.620G>A (p.Ser207Asn)	MITF (S100N +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1217664	NM_001354604.2(MITF):c.622G>A (p.Glu208Lys)	MITF (E101K +6 more)	Single nucleotide variant (missense variant)	not provided +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)	Tietz syndrome +4 more	GLikely benign
Select item 1203392	NM_001354604.2(MITF):c.632G>A (p.Gly211Asp)	MITF (G104D +6 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2574501	NM_001354604.2(MITF):c.634A>G (p.Met212Val)	MITF (M105V +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 666859	NM_001354604.2(MITF):c.639C>G (p.Asn213Lys)	MITF (N106K +6 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +4 more	GUncertain significance
Select item 499959	NM_001354604.2(MITF):c.639C>T (p.Asn213=)	MITF	Single nucleotide variant (synonymous variant)	not provided +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)	Melanoma, cutaneous malignant, susceptibility to, 8 +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)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2662717	NM_001354604.2(MITF):c.645T>G (p.His215Gln)	MITF (H108Q +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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
Select item 1809824	NM_001354604.2(MITF):c.650G>A (p.Arg217Gln)	MITF (R110Q +6 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +3 more	GUncertain significance
Select item 2925351	NM_001354604.2(MITF):c.653C>T (p.Ala218Val)	MITF (A111V +6 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1204821	NM_001354604.2(MITF):c.654G>A (p.Ala218=)	MITF	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +3 more	GLikely benign
Select item 504813	NM_001354604.2(MITF):c.666+5T>C	MITF	Single nucleotide variant (intron variant)	not specified +5 more	GUncertain significance
Select item 1215174	NM_001354604.2(MITF):c.666+119dup	MITF	Duplication (intron variant)	not provided	GLikely benign
Select item 1248045	NM_001354604.2(MITF):c.667-109A>G	MITF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 505225	NM_001354604.2(MITF):c.667-7C>T	MITF	Single nucleotide variant (intron variant)	not specified +5 more	GLikely benign
Select item 228857	NM_001354604.2(MITF):c.667-3C>T	MITF	Single nucleotide variant (intron variant)	not provided +4 more	GLikely benign
Select item 2443660	NM_001354604.2(MITF):c.667A>G (p.Met223Val)	MITF (M116V +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 547529	NM_001354604.2(MITF):c.669G>A (p.Met223Ile)	MITF (M116I +6 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1049403	NM_001354604.2(MITF):c.674A>G (p.Asp225Gly)	MITF (D118G +6 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1723701	NM_001354604.2(MITF):c.682G>A (p.Asp228Asn)	MITF (D121N +6 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 1189737	NM_001354604.2(MITF):c.726G>C (p.Leu242Phe)	MITF (L135F +6 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 2A +4 more	GUncertain significance
Select item 3371684	NM_001354604.2(MITF):c.732G>C (p.Leu244Phe)	MITF (L137F +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 221940	NM_001354604.2(MITF):c.736G>A (p.Asp246Asn)	MITF (D139N +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1313138	NM_001354604.2(MITF):c.737A>G (p.Asp246Gly)	MITF (D139G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973284	NM_001354604.2(MITF):c.738T>G (p.Asp246Glu)	MITF (D229E +6 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 2A +3 more	GUncertain significance
Select item 2662051	NM_001354604.2(MITF):c.751A>G (p.Met251Val)	MITF (M144V +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308728	NM_001354604.2(MITF):c.752T>A (p.Met251Lys)	MITF (M144K +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1215164	NM_001354604.2(MITF):c.761C>T (p.Thr254Met)	MITF (T147M +6 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 676893	NM_001354604.2(MITF):c.762+232C>T	MITF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1313154	NM_001354604.2(MITF):c.770T>A (p.Val257Asp)	MITF (V150D +6 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +3 more	GUncertain significance
Select item 2096786	NM_001354604.2(MITF):c.773C>T (p.Ser258Leu)	MITF (S151L +6 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2938043	NM_001354604.2(MITF):c.776G>A (p.Gly259Glu)	MITF (G242E +6 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2663180	NM_001354604.2(MITF):c.804A>T (p.Gln268His)	MITF (Q105H +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2203401	NM_001354604.2(MITF):c.815del (p.Pro272fs)	MITF (P220fs +6 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 2047039	NM_001354604.2(MITF):c.817C>G (p.Pro273Ala)	MITF (P221A +6 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +3 more	GUncertain significance
Select item 1313794	NM_001354604.2(MITF):c.818C>A (p.Pro273Gln)	MITF (P110Q +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363508	NM_001354604.2(MITF):c.823C>G (p.Leu275Val)	MITF (L112V +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305042	NM_001354604.2(MITF):c.823C>A (p.Leu275Ile)	MITF (L112I +6 more)	Single nucleotide variant (missense variant)	Tietz syndrome +4 more	GUncertain significance
Select item 1311804	NM_001354604.2(MITF):c.830T>G (p.Ile277Ser)	MITF (I114S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367862	NM_001354604.2(MITF):c.833G>A (p.Ser278Asn)	MITF (S115N +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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