Related gene-specific medical variations for Gene (Select 83959) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248354	NC_000020.10:g.(?_3205137)_(3209744_?)del	SLC4A11	Deletion	not provided	GLikely pathogenic
Select item 3248353	NC_000020.10:g.(?_3211989)_(3212849_?)del	SLC4A11	Deletion	not provided	GLikely pathogenic
Select item 3238785	NM_001174089.2(SLC4A11):c.1849A>C (p.Met617Leu)	SLC4A11 (M579L +5 more)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy-perceptive deafness syndrome	GUncertain significance
Select item 2433562	NM_001174089.2(SLC4A11):c.2252dup (p.Ser752fs)	SLC4A11 (S714fs +5 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1030273	NM_001174089.2(SLC4A11):c.20G>T (p.Arg7Leu)	LOC130065323, SLC4A11 (R7L)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy, Fuchs endothelial, 4	GUncertain significance
Select item 991695	NM_001174089.2(SLC4A11):c.1782C>T (p.Asp594=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	Corneal dystrophy-perceptive deafness syndrome	GUncertain significance
Select item 898049	NM_001174089.2(SLC4A11):c.*351C>T	ITPA, SLC4A11	Single nucleotide variant (3 prime UTR variant +1 more)	Corneal dystrophy	GUncertain significance
Select item 522760	NM_001174089.2(SLC4A11):c.2062G>A (p.Ala688Thr)	SLC4A11 (A688T +3 more)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy-perceptive deafness syndrome	GLikely pathogenic
Select item 1318	NM_032034.4:c.2423_2454del	SLC4A11	Deletion	Corneal dystrophy-perceptive deafness syndrome	GPathogenic