"GeneDx"[submitter] AND "FHL2"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 145956	GRCh38/hg38 2q12.1-12.3(chr2:104381722-107312459)x1	C2orf49, C2orf49-DT +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 48332	NM_001318895.3(FHL2):c.819C>T (p.Pro273=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy +2 more	GBenign
Select item 48331	NM_001318895.3(FHL2):c.804C>T (p.Asp268=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy +2 more	GBenign
Select item 426351	NM_001318895.3(FHL2):c.701C>T (p.Thr234Ile)	C2orf49, FHL2 (T234I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 48329	NM_001318895.3(FHL2):c.689-12C>G	FHL2, C2orf49	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy +2 more	GBenign
Select item 1706660	NM_001318895.3(FHL2):c.689-225G>A	FHL2, C2orf49	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270779	NM_001318895.3(FHL2):c.688+236A>G	C2orf49, FHL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247018	NM_001318895.3(FHL2):c.688+139_688+142dup	C2orf49, FHL2	Duplication (intron variant)	not provided	GBenign
Select item 48327	NM_001318895.3(FHL2):c.688+12G>T	FHL2, C2orf49	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy +2 more	GBenign
Select item 429238	NM_001318895.3(FHL2):c.513G>A (p.Thr171=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 1288113	NM_001318895.3(FHL2):c.502-240G>A	C2orf49, FHL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281226	NM_001318895.3(FHL2):c.331+300C>T	C2orf49, FHL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1315080	NM_001318895.3(FHL2):c.164C>T (p.Ser55Phe)	C2orf49, FHL2 (S55F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance