ClinVar for MedGen (Select 1823958) - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067953	NM_138572.3(TAF8):c.365-1G>T	TAF8	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy	GLikely pathogenic
Select item 2637896	NM_138572.3(TAF8):c.45+5G>A	TAF8	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy	GPathogenic
Select item 2584403	NM_138572.3(TAF8):c.433C>G (p.His145Asp)	TAF8 (H145D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy	GUncertain significance
Select item 2206908	NM_138572.3(TAF8):c.38C>A (p.Ser13Tyr)	TAF8 (S13Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1698453	NM_138572.3(TAF8):c.489G>A (p.Pro163=)	TAF8	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy	GPathogenic
Select item 1698452	NM_138572.3(TAF8):c.45+4A>G	TAF8	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy	GPathogenic
Select item 638647	NM_138572.3(TAF8):c.781-1G>A	TAF8	Single nucleotide variant (splice acceptor variant)	TAF8-related disorder +3 more	GPathogenic