ClinVar for Gene (Select 107988030) - ClinVar - NCBI

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

Links from Gene

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1200810	NM_001354604.2(MITF):c.355-1127C>T	LOC107988030, MITF	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
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 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 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 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 228360	NM_198159.2(MITF):c.(?_355)-1203_*(78_?)del	LOC107988030, MITF	Deletion	Rare genetic deafness	GPathogenic
Select item 154137	GRCh38/hg38 3p14.1-13(chr3:69428068-70977848)x3	FOXP1, FRMD4B +19 more	Copy number gain	See cases	GLikely benign
Select item 151504	GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)x3	ARL6IP5, CNTN3 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	ROBO1, ROBO2 +481 more	Copy number loss	See cases	GPathogenic
Select item 146865	GRCh38/hg38 3p13(chr3:69914878-70489155)x1	LOC107988030, LOC107988038 +9 more	Copy number loss	See cases	GPathogenic
Select item 144339	GRCh38/hg38 3p14.1-13(chr3:67391006-73414001)x1	ARL6IP5, EBLN2 +142 more	Copy number loss	See cases	GPathogenic
Select item 57772	GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1	ADAMTS9-AS2, ARL6IP5 +234 more	Copy number loss	See cases	GPathogenic