"FHL2-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 48326	NM_001318895.3(FHL2):c.678C>T (p.Asn226=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 48324	NM_001318895.3(FHL2):c.462T>C (p.Tyr154=)	FHL2, C2orf49	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 580581	NM_001318895.3(FHL2):c.402G>C (p.Gln134His)	C2orf49, FHL2 (Q134H +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 506138	NM_001318895.3(FHL2):c.392G>A (p.Arg131His)	C2orf49, FHL2 (R131H +2 more)	Single nucleotide variant (missense variant)	FHL2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2198087	NM_001318895.3(FHL2):c.218A>G (p.Asn73Ser)	C2orf49, FHL2 (N73S)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 178037	NM_001318895.3(FHL2):c.207G>A (p.Ser69=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 48321	NM_001318895.3(FHL2):c.192C>T (p.Ala64=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 48333	NM_001318895.3(FHL2):c.85G>A (p.Val29Met)	FHL2 (V29M)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 2041026	NM_001318895.3(FHL2):c.4A>G (p.Thr2Ala)	FHL2 (T2A)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance