"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SLC4A11"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1316	NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro)	SLC4A11 (L843P +3 more)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy-perceptive deafness syndrome +3 more	GPathogenic/Likely pathogenic
Select item 855486	NM_001174089.2(SLC4A11):c.2192+1G>A	SLC4A11	Single nucleotide variant (splice donor variant)	Congenital hereditary endothelial dystrophy of cornea +3 more	GPathogenic/Likely pathogenic
Select item 805462	NM_001174089.2(SLC4A11):c.2176G>A (p.Gly726Arg)	SLC4A11 (G742R +3 more)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy +4 more	GUncertain significance
Select item 962167	NM_001174089.2(SLC4A11):c.2140C>T (p.Arg714Ter)	SLC4A11 (R676* +3 more)	Single nucleotide variant (nonsense +1 more)	Corneal dystrophy-perceptive deafness syndrome +4 more	GPathogenic
Select item 338243	NM_001174089.2(SLC4A11):c.1862G>A (p.Arg621His)	SLC4A11 (R637H +3 more)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy +4 more	GUncertain significance
Select item 898123	NM_001174089.2(SLC4A11):c.1807G>A (p.Ala603Thr)	SLC4A11 (A565T +3 more)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy, Fuchs endothelial, 4 +5 more	GConflicting classifications of pathogenicity
Select item 899234	NM_001174089.2(SLC4A11):c.1634C>T (p.Thr545Met)	SLC4A11 (T561M +3 more)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy-perceptive deafness syndrome +3 more	GUncertain significance
Select item 1068065	NM_001174089.2(SLC4A11):c.1201G>C (p.Gly401Arg)	SLC4A11 (G401R +2 more)	Single nucleotide variant (missense variant +2 more)	Congenital hereditary endothelial dystrophy of cornea +3 more	GLikely pathogenic
Select item 1068021	NM_001174089.2(SLC4A11):c.1201G>A (p.Gly401Arg)	SLC4A11 (G401R +2 more)	Single nucleotide variant (missense variant +2 more)	Corneal dystrophy-perceptive deafness syndrome +3 more	GLikely pathogenic
Select item 1419680	NM_001174089.2(SLC4A11):c.671_672delinsTT (p.Trp224Phe)	SLC4A11 (W240F +2 more)	Indel (missense variant +1 more)	not provided +3 more	GUncertain significance