"MITF-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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

Search results

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3047368	NM_001354604.2(MITF):c.64A>G (p.Lys22Glu)	LOC107988042, MITF (K22E)	Single nucleotide variant (missense variant +1 more)	MITF-related disorder	GUncertain significance
Select item 2628573	NM_001354604.2(MITF):c.104+24210A>G	MITF (R24G)	Single nucleotide variant (missense variant +1 more)	MITF-related disorder	GUncertain significance
Select item 228854	NM_001354604.2(MITF):c.104+24226G>A	MITF (C29Y)	Single nucleotide variant (missense variant +1 more)	MITF-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2631055	NM_001354604.2(MITF):c.104+54808T>C	MITF (M16T)	Single nucleotide variant (missense variant +1 more)	MITF-related disorder	GUncertain significance
Select item 3048546	NM_001354604.2(MITF):c.105-12832T>C	MITF	Single nucleotide variant (synonymous variant +1 more)	MITF-related disorder	GLikely benign
Select item 3048249	NM_001354604.2(MITF):c.105-12791A>G	MITF (Y18C)	Single nucleotide variant (missense variant +1 more)	MITF-related disorder	GUncertain significance
Select item 2631029	NM_001354604.2(MITF):c.108T>G (p.Ser36Arg)	MITF (S11R +4 more)	Single nucleotide variant (5 prime UTR variant +1 more)	MITF-related disorder	GUncertain significance
Select item 3055283	NM_001354604.2(MITF):c.111C>T (p.Ser37=)	MITF	Single nucleotide variant (5 prime UTR variant +1 more)	MITF-related disorder	GLikely benign
Select item 3051214	NM_001354604.2(MITF):c.141G>A (p.Pro47=)	MITF	Single nucleotide variant (5 prime UTR variant +1 more)	MITF-related disorder	GLikely benign
Select item 3047190	NM_001354604.2(MITF):c.141G>T (p.Pro47=)	MITF	Single nucleotide variant (5 prime UTR variant +1 more)	MITF-related disorder	GLikely benign
Select item 3032510	NM_001354604.2(MITF):c.273C>T (p.Pro91=)	MITF	Single nucleotide variant (synonymous variant)	MITF-related disorder	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 228855	NM_001354604.2(MITF):c.329C>T (p.Thr110Met)	MITF (T110M +4 more)	Single nucleotide variant (missense variant)	MITF-related disorder +1 more	GUncertain significance
Select item 226727	NM_001354604.2(MITF):c.330G>A (p.Thr110=)	MITF	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 3030392	NM_001354604.2(MITF):c.339G>A (p.Pro113=)	MITF	Single nucleotide variant (synonymous variant)	MITF-related disorder	GLikely benign
Select item 1697578	NM_001354604.2(MITF):c.345A>G (p.Glu115=)	MITF	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 3037066	NM_001354604.2(MITF):c.354+7G>A	MITF	Single nucleotide variant (intron variant)	MITF-related disorder	GLikely benign
Select item 3045068	NM_001354604.2(MITF):c.355-1103T>A	LOC107988030, MITF	Single nucleotide variant (5 prime UTR variant +1 more)	MITF-related disorder	GLikely benign
Select item 2636830	NM_000248.4(MITF):c.7G>A (p.Glu3Lys)	MITF (E3K)	Single nucleotide variant (missense variant +1 more)	MITF-related disorder	GUncertain significance
Select item 2631739	NM_000248.4(MITF):c.27C>G (p.His9Gln)	MITF (H9Q)	Single nucleotide variant (missense variant +1 more)	MITF-related disorder	GUncertain significance
Select item 226728	NM_001354604.2(MITF):c.366C>T (p.His122=)	MITF	Single nucleotide variant (synonymous variant)	Waardenburg syndrome type 2A +6 more	GBenign/Likely benign
Select item 1986398	NM_001354604.2(MITF):c.450A>T (p.Lys150Asn)	MITF (K134N +5 more)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2A +3 more	GUncertain significance
Select item 3030647	NM_001354604.2(MITF):c.477A>G (p.Pro159=)	MITF	Single nucleotide variant (synonymous variant +1 more)	MITF-related disorder	GLikely benign
Select item 2938034	NM_001354604.2(MITF):c.495C>G (p.Gly165=)	MITF	Single nucleotide variant (synonymous variant +1 more)	MITF-related disorder +3 more	GLikely benign
Select item 346494	NM_001354604.2(MITF):c.505A>G (p.Met169Val)	MITF (M62V +5 more)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2A +4 more	GConflicting classifications of pathogenicity
Select item 1800973	NM_001354604.2(MITF):c.520G>A (p.Gly174Arg)	MITF (G122R +5 more)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 8 +4 more	GUncertain significance
Select item 2930185	NM_001354604.2(MITF):c.582+10G>A	MITF	Single nucleotide variant (intron variant)	MITF-related disorder +3 more	GLikely benign
Select item 1337965	NM_001354604.2(MITF):c.583-9T>C	MITF	Single nucleotide variant (intron variant)	MITF-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 227546	NM_001354604.2(MITF):c.623A>G (p.Glu208Gly)	MITF (E101G +6 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +5 more	GLikely benign
Select item 2940890	NM_001354604.2(MITF):c.667-6C>T	MITF	Single nucleotide variant (intron variant)	MITF-related disorder +3 more	GLikely benign
Select item 228857	NM_001354604.2(MITF):c.667-3C>T	MITF	Single nucleotide variant (intron variant)	not provided +5 more	GLikely benign
Select item 547529	NM_001354604.2(MITF):c.669G>A (p.Met223Ile)	MITF (M116I +6 more)	Single nucleotide variant (missense variant)	MITF-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1308728	NM_001354604.2(MITF):c.752T>A (p.Met251Lys)	MITF (M144K +6 more)	Single nucleotide variant (missense variant)	MITF-related disorder +1 more	GUncertain significance
Select item 2631491	NM_001354604.2(MITF):c.815C>A (p.Pro272Gln)	MITF (P109Q +6 more)	Single nucleotide variant (missense variant)	MITF-related disorder	GUncertain significance
Select item 1215244	NM_001354604.2(MITF):c.881-6G>A	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +4 more	GConflicting classifications of pathogenicity
Select item 1803630	NM_001354604.2(MITF):c.884G>A (p.Cys295Tyr)	MITF (C188Y +2 more)	Single nucleotide variant (missense variant +1 more)	MITF-related disorder +1 more	GUncertain significance
Select item 2185988	NM_001354604.2(MITF):c.956-4G>A	MITF	Single nucleotide variant (intron variant)	Tietz syndrome +3 more	GLikely benign
Select item 545016	NM_001354604.2(MITF):c.997G>T (p.Glu333Ter)	MITF (E226* +9 more)	Single nucleotide variant (nonsense)	MITF-related disorder	GLikely pathogenic
Select item 2635349	NM_001354604.2(MITF):c.1031+6T>C	MITF	Single nucleotide variant (intron variant)	MITF-related disorder	GUncertain significance
Select item 901511	NM_001354604.2(MITF):c.1032-4G>A	MITF	Single nucleotide variant (intron variant)	Waardenburg syndrome type 2A +4 more	GConflicting classifications of pathogenicity
Select item 505101	NM_001354604.2(MITF):c.1040G>A (p.Arg347His)	MITF (R240H +9 more)	Single nucleotide variant (missense variant)	MITF-related disorder +5 more	GUncertain significance
Select item 2636574	NM_001354604.2(MITF):c.1050G>C (p.Lys350Asn)	MITF (K181N +9 more)	Single nucleotide variant (missense variant)	MITF-related disorder	GUncertain significance
Select item 504773	NM_001354604.2(MITF):c.1050G>A (p.Lys350=)	MITF	Single nucleotide variant (synonymous variant)	MITF-related disorder +5 more	GLikely benign
Select item 547535	NM_001354604.2(MITF):c.1072G>A (p.Val358Met)	MITF (V251M +9 more)	Single nucleotide variant (missense variant)	MITF-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1806743	NM_001354604.2(MITF):c.1130G>A (p.Arg377Gln)	MITF (R208Q +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +4 more	GUncertain significance
Select item 1196944	NM_001354604.2(MITF):c.1146G>A (p.Glu382=)	MITF	Single nucleotide variant (synonymous variant)	Tietz syndrome +4 more	GLikely benign
Select item 1217498	NM_001354604.2(MITF):c.1159C>T (p.His387Tyr)	MITF (H218Y +9 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 517197	NM_001354604.2(MITF):c.1179+4C>T	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +5 more	GConflicting classifications of pathogenicity
Select item 1300483	NM_001354604.2(MITF):c.1179+6C>T	MITF	Single nucleotide variant (intron variant)	MITF-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 2005839	NM_001354604.2(MITF):c.1180-7A>T	MITF	Single nucleotide variant (intron variant)	Waardenburg syndrome type 2A +3 more	GLikely benign
Select item 14277	NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro)	MITF (S298P +9 more)	Single nucleotide variant (missense variant)	MITF-related disorder +5 more	GUncertain significance
Select item 346499	NM_001354604.2(MITF):c.1280T>C (p.Val427Ala)	MITF (V320A +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +6 more	GConflicting classifications of pathogenicity
Select item 1810121	NM_001354604.2(MITF):c.1352C>T (p.Thr451Met)	MITF (T282M +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +4 more	GUncertain significance
Select item 226725	NM_001354604.2(MITF):c.1381C>A (p.Leu461Ile)	MITF (L354I +9 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 2A +5 more	GBenign
Select item 2419325	NM_001354604.2(MITF):c.1396G>C (p.Glu466Gln)	MITF (E297Q +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +3 more	GUncertain significance
Select item 2051264	NM_001354604.2(MITF):c.1404C>T (p.Asn468=)	MITF	Single nucleotide variant (synonymous variant)	MITF-related disorder +3 more	GLikely benign
Select item 667264	NM_001354604.2(MITF):c.1412A>T (p.Tyr471Phe)	MITF (Y302F +9 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 2A +5 more	GConflicting classifications of pathogenicity
Select item 1208773	NM_001354604.2(MITF):c.1443G>A (p.Leu481=)	MITF	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 1338052	NM_001354604.2(MITF):c.1494A>C (p.Pro498=)	MITF	Single nucleotide variant (synonymous variant)	MITF-related disorder +5 more	GLikely benign
Select item 3032141	NM_001354604.2(MITF):c.1506A>T (p.Ser502=)	MITF	Single nucleotide variant (synonymous variant)	MITF-related disorder	GLikely benign
Select item 1687701	NM_001354604.2(MITF):c.1516G>C (p.Gly506Arg)	MITF (G337R +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +4 more	GUncertain significance
Select item 900478	NM_001354604.2(MITF):c.1517G>A (p.Gly506Glu)	MITF (G337E +9 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 2A +4 more	GConflicting classifications of pathogenicity
Select item 734310	NM_001354604.2(MITF):c.1573A>G (p.Thr525Ala)	MITF (T467A +9 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 1708007	NM_001354604.2(MITF):c.*7C>G	MITF	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 64