Related gene-specific medical variations for Gene (Select 55691) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3517212	NM_018027.5(FRMD4A):c.2967A>C (p.Gln989His)	FRMD4A, PRPF18 (Q1005H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3096914	NM_018027.5(FRMD4A):c.2999T>C (p.Ile1000Thr)	FRMD4A, PRPF18 (I1016T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096913	NM_018027.5(FRMD4A):c.2956G>A (p.Ala986Thr)	FRMD4A, PRPF18 (A1002T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3057736	NM_018027.5(FRMD4A):c.*2+6G>A	FRMD4A, PRPF18	Single nucleotide variant (intron variant)	FRMD4A-related disorder	GLikely benign
Select item 2556158	NM_018027.5(FRMD4A):c.2984C>T (p.Thr995Ile)	FRMD4A, PRPF18 (T1011I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467531	NM_018027.5(FRMD4A):c.3013C>T (p.Pro1005Ser)	FRMD4A, PRPF18 (P1005S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1175135	NM_018027.5(FRMD4A):c.*2+5C>T	FRMD4A, PRPF18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 980368	GRCh37/hg19 10p13(chr10:14231157-14553018)x3	FRMD4A	Copy number gain	not provided	GUncertain significance
Select item 813684	NM_018027.5(FRMD4A):c.1714C>T (p.Leu572Phe)	FRMD4A (L263F +3 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 785306	NM_018027.5(FRMD4A):c.3065A>T (p.Asn1022Ile)	FRMD4A, PRPF18 (N1022I +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 727331	NM_018027.5(FRMD4A):c.1898+9C>T	FRMD4A, LOC130003382	Single nucleotide variant (intron variant)	not provided	GBenign