Related gene-specific medical variations for Gene (Select 4286) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062730	GRCh37/hg19 3p13(chr3:69921510-69928465)x1	MITF	Copy number loss	not specified	GPathogenic
Select item 3047368	NM_001354604.2(MITF):c.64A>G (p.Lys22Glu)	LOC107988042, MITF (K22E)	Single nucleotide variant (missense variant +1 more)	MITF-related condition	GUncertain significance
Select item 3045068	NM_001354604.2(MITF):c.355-1103T>A	LOC107988030, MITF	Single nucleotide variant (5 prime UTR variant +1 more)	MITF-related condition	GLikely benign
Select item 2685925	GRCh37/hg19 3p14.1-13(chr3:69609107-69870154)x3	MITF	Copy number gain	not provided	GUncertain significance
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 1697576	NM_001354604.2(MITF):c.-29C>T	LOC107988042, MITF	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1330231	NM_001354604.2(MITF):c.979A>C (p.Ile327Leu)	MITF (I158L +9 more)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1319604	NM_001354604.2(MITF):c.1486A>G (p.Thr496Ala)	MITF (T327A +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1200810	NM_001354604.2(MITF):c.355-1127C>T	LOC107988030, MITF	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 996799	NM_001354604.2(MITF):c.1093C>T (p.Gln365Ter)	MITF (Q196* +9 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 981831	NM_000248.4(MITF):c.1A>G (p.Met1Val)	LOC107988030, MITF (M1V)	Single nucleotide variant (intron variant +2 more)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 932038	NM_001354604.2(MITF):c.104+24188C>G	MITF (F16L)	Single nucleotide variant (missense variant +1 more)	Tietz syndrome	GUncertain significance
Select item 902025	NM_001354604.2(MITF):c.355-1219G>A	LOC107988030, MITF	Single nucleotide variant (5 prime UTR variant +1 more)	Tietz syndrome +1 more	GUncertain significance
Select item 872077	NM_001354604.2(MITF):c.397C>T (p.Gln133Ter)	MITF (Q116* +5 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 814452	GRCh37/hg19 3p13(chr3:69874997-69901170)x1	MITF	Copy number loss	not provided	GUncertain significance
Select item 688297	GRCh37/hg19 3p13(chr3:69821345-69874928)x1	MITF	Copy number loss	not provided	GUncertain significance
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 505050	NM_001354604.2(MITF):c.60G>T (p.Glu20Asp)	LOC107988042, MITF (E20D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 346493	NM_001354604.2(MITF):c.355-1135G>A	LOC107988030, MITF	Single nucleotide variant (5 prime UTR variant +1 more)	Tietz syndrome +3 more	GBenign/Likely benign
Select item 255618	NM_001354604.2(MITF):c.956-7C>A	MITF	Single nucleotide variant (intron variant)	not specified	GLikely benign

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Links from Gene

Items: 31