ClinVar for OMIM (Select 620746) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3027508	NM_001178015.2(SLC4A10):c.667C>T (p.His223Tyr)	SLC4A10 (H174Y +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities	GPathogenic
Select item 3027507	NM_001178015.2(SLC4A10):c.2162A>G (p.Tyr721Cys)	SLC4A10 (Y498C +9 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities	GPathogenic
Select item 3027506	NM_001178015.2(SLC4A10):c.1864C>T (p.Arg622Trp)	SLC4A10 (R399W +9 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities	GPathogenic
Select item 3027505	NM_001178015.2(SLC4A10):c.1052G>C (p.Arg351Thr)	SLC4A10 (R128T +9 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities	GPathogenic
Select item 3027504	NM_001178015.2(SLC4A10):c.2894C>T (p.Pro965Leu)	SLC4A10 (P742L +9 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities	GPathogenic
Select item 3027499	NM_001178015.2(SLC4A10):c.417-1341del	SLC4A10	Deletion (intron variant)	Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities	GPathogenic
Select item 1342974	NM_001178015.2(SLC4A10):c.[1730A>T;3308A>T]	SLC4A10 (K354M +21 more)	Single nucleotide variant (missense variant)	SLC4A10-related neurodevelopmental disorder	GLikely pathogenic
Select item 1342973	NM_001178015.2(SLC4A10):c.2619G>A (p.Trp873Ter)	SLC4A10 (W650* +10 more)	Single nucleotide variant (nonsense)	SLC4A10-related neurodevelopmental disorder	GLikely pathogenic
Select item 1342972	NM_001178015.2(SLC4A10):c.2863-2A>C	SLC4A10	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities +1 more	GPathogenic/Likely pathogenic
Select item 1342971	NM_001178015.2(SLC4A10):c.2269C>T (p.Arg757Ter)	SLC4A10 (R534* +10 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities +1 more	GPathogenic/Likely pathogenic