"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "FRMD4A" - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 728534	NM_018027.5(FRMD4A):c.2886C>T (p.Ser962=)	FRMD4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 731653	NM_018027.5(FRMD4A):c.2661C>T (p.Gly887=)	FRMD4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 774892	NM_018027.5(FRMD4A):c.2429CGGGGGGCG[2] (p.810AGG[2])	FRMD4A	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 735148	NM_018027.5(FRMD4A):c.2151G>A (p.Lys717=)	FRMD4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711129	NM_018027.5(FRMD4A):c.1935G>A (p.Ala645=)	FRMD4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727331	NM_018027.5(FRMD4A):c.1898+9C>T	FRMD4A, LOC130003382	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 787898	NM_018027.5(FRMD4A):c.1779G>A (p.Gln593=)	FRMD4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709945	NM_018027.5(FRMD4A):c.1693C>T (p.Leu565=)	FRMD4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 740950	NM_018027.5(FRMD4A):c.1552C>T (p.Arg518Cys)	FRMD4A (R209C +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 709946	NM_018027.5(FRMD4A):c.1528A>G (p.Ile510Val)	FRMD4A (I201V +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 798005	NM_018027.5(FRMD4A):c.1134T>C (p.Asp378=)	FRMD4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729172	NM_018027.5(FRMD4A):c.1089C>T (p.Ser363=)	FRMD4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742442	NM_018027.5(FRMD4A):c.1080G>A (p.Lys360=)	FRMD4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744816	NM_018027.5(FRMD4A):c.1038G>A (p.Thr346=)	FRMD4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746283	NM_018027.5(FRMD4A):c.1026C>T (p.Thr342=)	FRMD4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734614	NM_018027.5(FRMD4A):c.907T>C (p.Leu303=)	FRMD4A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 797715	NM_018027.5(FRMD4A):c.888G>A (p.Thr296=)	FRMD4A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely 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 780846	NM_018027.5(FRMD4A):c.363C>T (p.Asn121=)	FRMD4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713461	NM_018027.5(FRMD4A):c.112-7C>T	FRMD4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 711712	NM_018027.5(FRMD4A):c.105A>C (p.Leu35=)	FRMD4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 23