Related gene-specific medical variations for Gene (Select 23191) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3079320	NM_014608.6(CYFIP1):c.3400A>T (p.Met1134Leu)	CYFIP1, LOC112272575 (M1100L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079319	NM_014608.6(CYFIP1):c.3370T>C (p.Cys1124Arg)	CYFIP1, LOC112272575 (C564R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079318	NM_014608.6(CYFIP1):c.3367G>A (p.Glu1123Lys)	CYFIP1, LOC112272575 (E1001K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079317	NM_014608.6(CYFIP1):c.3355A>G (p.Met1119Val)	CYFIP1, LOC112272575 (M1153V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2630737	NM_014608.6(CYFIP1):c.3220A>G (p.Ile1074Val)	LOC112272575, CYFIP1 (I1040V +6 more)	Single nucleotide variant (missense variant)	CYFIP1-related disorder	GUncertain significance
Select item 2604310	NM_014608.6(CYFIP1):c.3302G>T (p.Arg1101Leu)	CYFIP1, LOC112272575 (R1071L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398414	NM_014608.6(CYFIP1):c.3295C>T (p.Arg1099Trp)	CYFIP1, LOC112272575 (R1065W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378601	NM_014608.6(CYFIP1):c.3275T>C (p.Met1092Thr)	CYFIP1, LOC112272575 (M1092T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218682	NM_014608.6(CYFIP1):c.2826A>T (p.Gln942His)	CYFIP1, LOC126862074 (Q976H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750193	NM_014608.6(CYFIP1):c.3366C>T (p.Asp1122=)	CYFIP1, LOC112272575	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730970	NM_014608.6(CYFIP1):c.3330C>T (p.Arg1110=)	CYFIP1, LOC112272575	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728715	NM_014608.6(CYFIP1):c.3336T>C (p.Pro1112=)	CYFIP1, LOC112272575	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725142	NM_014608.4:c.-6-?_*563+?del	CYFIP1	Deletion	not provided	GLikely benign
Select item 722266	NM_014608.6(CYFIP1):c.2895C>T (p.His965=)	CYFIP1, LOC126862074	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 236368	Single allele	CYFIP1	Duplication	Autism spectrum disorder	GUncertain significance
Select item 236367	Single allele	CYFIP1	Duplication	Autism spectrum disorder	GUncertain significance
Select item 236366	Single allele	CYFIP1	Duplication	Autism spectrum disorder	GUncertain significance
Select item 236365	Single allele	CYFIP1	Deletion	Autism spectrum disorder	GUncertain significance
Select item 236364	Single allele	CYFIP1	Duplication	Autism spectrum disorder	GUncertain significance