ClinVar for MedGen (Select 1777442) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064752	NM_182710.3(KAT5):c.1380G>A (p.Met460Ile)	KAT5, RNASEH2C (M375I +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	GUncertain significance
Select item 2504026	NM_182710.3(KAT5):c.930G>C (p.Gln310His)	KAT5 (Q225H +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2431820	NM_182710.3(KAT5):c.922T>A (p.Cys308Ser)	KAT5 (C223S +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	GUncertain significance
Select item 1708123	NM_182710.3(KAT5):c.524_534del (p.Pro175fs)	KAT5 (P142fs +1 more)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	GUncertain significance
Select item 1679578	NM_182710.3(KAT5):c.690+7C>T	KAT5	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	GUncertain significance
Select item 1526175	NM_182710.3(KAT5):c.1369G>A (p.Glu457Lys)	KAT5, RNASEH2C (E372K +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	GUncertain significance
Select item 1299702	NM_182710.3(KAT5):c.1264+3_1264+6del	KAT5	Deletion (splice donor variant)	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	GUncertain significance
Select item 987966	NM_182710.3(KAT5):c.1336T>G (p.Ser446Ala)	RNASEH2C, KAT5 (S413A +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	GPathogenic
Select item 987965	NM_182710.3(KAT5):c.1204T>A (p.Cys402Ser)	KAT5 (C369S +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	GPathogenic
Select item 987964	NM_182710.3(KAT5):c.257G>A (p.Arg86His)	KAT5 (R53H +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	GPathogenic