ClinVar for MedGen (Select 902346) - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3220924	NM_018027.5(FRMD4A):c.3078delinsCATTCT (p.Asp1027fs)	FRMD4A, PRPF18 (D1027fs +3 more)	Indel (frameshift variant)	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	GLikely pathogenic
Select item 3065717	NM_018027.5(FRMD4A):c.110A>G (p.Gln37Arg)	FRMD4A (Q37R +2 more)	Single nucleotide variant (missense variant)	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	GLikely pathogenic
Select item 1285283	NM_018027.5(FRMD4A):c.207-16T>C	FRMD4A	Single nucleotide variant (intron variant)	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome +1 more	GBenign
Select item 930827	NM_018027.5(FRMD4A):c.2837C>T (p.Ser946Leu)	FRMD4A (S979L +3 more)	Single nucleotide variant (missense variant)	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome +1 more	GUncertain significance
Select item 779931	NM_018027.5(FRMD4A):c.2651GCG[6] (p.Gly888dup)	FRMD4A	Microsatellite (inframe_insertion)	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome +1 more	GBenign/Likely benign
Select item 772943	NM_018027.5(FRMD4A):c.705G>A (p.Leu235=)	FRMD4A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 222035	NM_018027.5(FRMD4A):c.2134_2146dup (p.Gly716fs)	FRMD4A (G749fs +3 more)	Duplication (frameshift variant)	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	GPathogenic