FHL2[gene] and "single gene"[properties] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1634707	NM_001318895.3(FHL2):c.156+11C>T	FHL2	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 735942	NM_001318895.3(FHL2):c.156+9T>C	FHL2	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 1118345	NM_001318895.3(FHL2):c.156+8C>T	FHL2	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 163493	NM_001318895.3(FHL2):c.156+2T>C	FHL2	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 2831763	NM_001318895.3(FHL2):c.154A>G (p.Lys52Glu)	FHL2 (K52E)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 691819	NM_001318895.3(FHL2):c.143G>A (p.Gly48Asp)	FHL2 (G48D)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 626637	NM_001318895.3(FHL2):c.142G>A (p.Gly48Ser)	FHL2 (G48S)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 626638	NM_001318895.3(FHL2):c.141C>T (p.Ile47=)	FHL2	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 864548	NM_001318895.3(FHL2):c.139A>G (p.Ile47Val)	FHL2 (I47V)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 524918	NM_001318895.3(FHL2):c.130G>A (p.Gly44Arg)	FHL2 (G44R)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 967510	NM_001318895.3(FHL2):c.128G>A (p.Cys43Tyr)	FHL2 (C43Y)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1462999	NM_001318895.3(FHL2):c.125A>G (p.Glu42Gly)	FHL2 (E42G)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1027072	NM_001318895.3(FHL2):c.121G>T (p.Glu41Ter)	FHL2 (E41*)	Single nucleotide variant (nonsense +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 454290	NM_001318895.3(FHL2):c.121G>A (p.Glu41Lys)	FHL2 (E41K)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 48320	NM_001318895.3(FHL2):c.120C>T (p.Cys40=)	FHL2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 1056430	NM_001318895.3(FHL2):c.109G>A (p.Ala37Thr)	FHL2 (A37T)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 178038	NM_001318895.3(FHL2):c.109G>T (p.Ala37Ser)	FHL2 (A37S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 454289	NM_001318895.3(FHL2):c.108C>T (p.Phe36=)	FHL2	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy +1 more	GBenign
Select item 641159	NM_001318895.3(FHL2):c.104T>G (p.Leu35Arg)	FHL2 (L35R)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2065514	NM_001318895.3(FHL2):c.86T>C (p.Val29Ala)	FHL2 (V29A)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
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 504744	NM_001318895.3(FHL2):c.84C>T (p.Cys28=)	FHL2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 2070461	NM_001318895.3(FHL2):c.82T>C (p.Cys28Arg)	FHL2 (C28R)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 163494	NM_001318895.3(FHL2):c.81C>A (p.Tyr27Ter)	FHL2 (Y27*)	Single nucleotide variant (nonsense +1 more)	not specified +1 more	GUncertain significance
Select item 2862361	NM_001318895.3(FHL2):c.74G>A (p.Ser25Asn)	FHL2 (S25N)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1005806	NM_001318895.3(FHL2):c.73dup (p.Ser25fs)	FHL2 (S25fs)	Duplication (frameshift variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2748330	NM_001318895.3(FHL2):c.72G>A (p.Glu24=)	FHL2	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 1054453	NM_001318895.3(FHL2):c.72G>C (p.Glu24Asp)	FHL2 (E24D)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2738952	NM_001318895.3(FHL2):c.65G>A (p.Arg22Gln)	FHL2 (R22Q)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2341409	NM_001318895.3(FHL2):c.64C>T (p.Arg22Trp)	FHL2 (R22W)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2480222	NM_001318895.3(FHL2):c.62T>G (p.Leu21Arg)	FHL2 (L21R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 504936	NM_001318895.3(FHL2):c.62T>A (p.Leu21Gln)	FHL2 (L21Q)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 2142916	NM_001318895.3(FHL2):c.56A>G (p.Tyr19Cys)	FHL2 (Y19C)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2131546	NM_001318895.3(FHL2):c.56A>T (p.Tyr19Phe)	FHL2 (Y19F)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3095089	NM_001318895.3(FHL2):c.55T>C (p.Tyr19His)	FHL2 (Y19H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 454292	NM_001318895.3(FHL2):c.33C>T (p.Asn11=)	FHL2	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 1063209	NM_001318895.3(FHL2):c.29G>A (p.Cys10Tyr)	FHL2 (C10Y)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1022557	NM_001318895.3(FHL2):c.11G>C (p.Arg4Pro)	FHL2 (R4P)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2722050	NM_001318895.3(FHL2):c.10C>A (p.Arg4Ser)	FHL2 (R4S)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
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
Select item 2787479	NM_001318895.3(FHL2):c.2T>C (p.Met1Thr)	FHL2 (M1T)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1052649	NC_000002.11:g.(?_105977730)_(106002983_?)dup	FHL2	Duplication	Primary dilated cardiomyopathy	GUncertain significance

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Items: 42