ClinVar for Gene (Select 79074) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3344286	NM_001318895.3(FHL2):c.558C>T (p.Phe186=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant)	FHL2-related disorder	GUncertain significance
Select item 3278823	NM_001318895.3(FHL2):c.732G>T (p.Trp244Cys)	C2orf49, FHL2 (W130C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095090	NM_001318895.3(FHL2):c.584T>C (p.Leu195Pro)	C2orf49, FHL2 (L195P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095088	NM_001318895.3(FHL2):c.492G>C (p.Gln164His)	C2orf49, FHL2 (Q50H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095086	NM_001318895.3(FHL2):c.259C>A (p.Leu87Met)	C2orf49, FHL2 (L87M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062631	GRCh37/hg19 2q12.1-12.2(chr2:105674582-106762678)x1	C2orf49, ECRG4 +6 more	Copy number loss	not specified	GUncertain significance
Select item 3023617	NM_001318895.3(FHL2):c.331+6G>A	C2orf49, FHL2	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2998561	NM_001318895.3(FHL2):c.332-14G>T	C2orf49, FHL2	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 2959946	NM_001318895.3(FHL2):c.596G>A (p.Arg199His)	C2orf49, FHL2 (R91H +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2915224	NM_001318895.3(FHL2):c.687C>T (p.Ser229=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2910608	NM_001318895.3(FHL2):c.270A>G (p.Thr90=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant +2 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 2900036	NM_001318895.3(FHL2):c.513G>C (p.Thr171=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 2894110	NM_001318895.3(FHL2):c.235C>G (p.Pro79Ala)	C2orf49, FHL2 (P79A)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2874630	NM_001318895.3(FHL2):c.157-9G>A	C2orf49, FHL2	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 2851897	NM_001318895.3(FHL2):c.655A>C (p.Lys219Gln)	C2orf49, FHL2 (K105Q +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2843559	NM_001318895.3(FHL2):c.414C>T (p.Thr138=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 2833133	NM_001318895.3(FHL2):c.501+6T>C	C2orf49, FHL2	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2832005	NM_001318895.3(FHL2):c.566_593del (p.Thr189fs)	C2orf49, FHL2 (T75fs +2 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2824374	NM_001318895.3(FHL2):c.574A>G (p.Arg192Gly)	C2orf49, FHL2 (R192G +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2822423	NM_001318895.3(FHL2):c.331+10C>A	C2orf49, FHL2	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 2808276	NM_001318895.3(FHL2):c.210G>T (p.Gln70His)	C2orf49, FHL2 (Q70H)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2792970	NM_001318895.3(FHL2):c.738C>G (p.Asn246Lys)	C2orf49, FHL2 (N138K +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2765067	NM_001318895.3(FHL2):c.311G>A (p.Cys104Tyr)	C2orf49, FHL2 (C104Y)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2763370	NM_001318895.3(FHL2):c.278A>T (p.Tyr93Phe)	C2orf49, FHL2 (Y93F)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2763365	NM_001318895.3(FHL2):c.502-12T>C	C2orf49, FHL2	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 2740306	NM_001318895.3(FHL2):c.794C>G (p.Thr265Arg)	C2orf49, FHL2 (T151R +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2737589	NM_001318895.3(FHL2):c.332-11_332-3del	C2orf49, FHL2	Deletion (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 2723106	NM_001318895.3(FHL2):c.338G>T (p.Arg113Leu)	C2orf49, FHL2 (R113L +1 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2720994	NM_001318895.3(FHL2):c.501+5C>G	C2orf49, FHL2	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2719450	NM_001318895.3(FHL2):c.254A>G (p.Asp85Gly)	C2orf49, FHL2 (D85G)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2716530	NM_001318895.3(FHL2):c.336C>G (p.Thr112=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy	GBenign
Select item 2700779	NM_001318895.3(FHL2):c.235_249del (p.Pro79_Lys83del)	C2orf49, FHL2	Deletion (inframe_deletion +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2684631	GRCh37/hg19 2q11.2-12.2(chr2:101933587-106547126)x1	C2orf49, CREG2 +18 more	Copy number loss	not provided	GUncertain significance
Select item 2651229	NM_024093.3(C2orf49):c.477T>C (p.Pro159=)	C2orf49	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2483438	NM_001318895.3(FHL2):c.548A>G (p.Lys183Arg)	C2orf49, FHL2 (K69R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2481563	NM_001318895.3(FHL2):c.392G>T (p.Arg131Leu)	C2orf49, FHL2 (R131L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2431511	NM_001318895.3(FHL2):c.752G>C (p.Cys251Ser)	C2orf49, FHL2 (C137S +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2396169	NM_001318895.3(FHL2):c.245C>T (p.Ala82Val)	C2orf49, FHL2 (A82V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2392845	NM_024093.3(C2orf49):c.10G>A (p.Asp4Asn)	C2orf49, LOC129934485 (D4N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305500	NM_001318895.3(FHL2):c.233A>G (p.Lys78Arg)	C2orf49, FHL2 (K78R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2213844	NM_024093.3(C2orf49):c.82C>T (p.Leu28Phe)	C2orf49 (L28F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	GUncertain significance
Select item 2197756	NM_001318895.3(FHL2):c.501+16C>T	C2orf49, FHL2	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 2195243	NM_001318895.3(FHL2):c.208C>G (p.Gln70Glu)	C2orf49, FHL2 (Q70E)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2179487	NM_001318895.3(FHL2):c.269C>T (p.Thr90Ile)	C2orf49, FHL2 (T90I)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2164211	NM_001318895.3(FHL2):c.191C>T (p.Ala64Val)	C2orf49, FHL2 (A64V)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2154469	NM_001318895.3(FHL2):c.502-10G>A	C2orf49, FHL2	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 2152661	NM_001318895.3(FHL2):c.698_699delinsAA (p.Gly233Glu)	C2orf49, FHL2 (G233E +2 more)	Indel (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2151478	NM_001318895.3(FHL2):c.462T>G (p.Tyr154Ter)	C2orf49, FHL2 (Y46* +2 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 2149319	NM_001318895.3(FHL2):c.529C>T (p.Arg177Trp)	C2orf49, FHL2 (R177W +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2147583	NM_001318895.3(FHL2):c.612T>C (p.Asp204=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 2086750	NM_001318895.3(FHL2):c.243T>C (p.Ala81=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant +2 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 2079777	NM_001318895.3(FHL2):c.486C>T (p.Cys162=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 2068628	NM_001318895.3(FHL2):c.502-13C>G	C2orf49, FHL2	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 2042048	NM_001318895.3(FHL2):c.805G>A (p.Asp269Asn)	C2orf49, FHL2 (D155N +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2004207	NM_001318895.3(FHL2):c.756G>T (p.Lys252Asn)	C2orf49, FHL2 (K252N +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2002331	NM_001318895.3(FHL2):c.162G>T (p.Leu54Phe)	C2orf49, FHL2 (L54F)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1985709	NM_001318895.3(FHL2):c.760T>C (p.Cys254Arg)	C2orf49, FHL2 (C146R +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1971847	NM_001318895.3(FHL2):c.501+8A>T	C2orf49, FHL2	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 1942885	NM_001318895.3(FHL2):c.429C>T (p.Pro143=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 1809266	GRCh37/hg19 2q12.1-12.2(chr2:105918129-106005471)x1	C2orf49, FHL2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1721095	NM_001318895.3(FHL2):c.729G>C (p.Gln243His)	C2orf49, FHL2 (Q129H +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1706660	NM_001318895.3(FHL2):c.689-225G>A	FHL2, C2orf49	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1671118	NM_001318895.3(FHL2):c.540C>T (p.Pro180=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 1668047	NM_001318895.3(FHL2):c.157-14G>A	C2orf49, FHL2	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 1632301	NM_001318895.3(FHL2):c.759G>A (p.Lys253=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 1626000	NM_001318895.3(FHL2):c.502-11C>T	C2orf49, FHL2	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 1622031	NM_001318895.3(FHL2):c.609C>T (p.Arg203=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 1612186	NM_001318895.3(FHL2):c.502-5T>C	C2orf49, FHL2	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 1610958	NM_001318895.3(FHL2):c.738C>T (p.Asn246=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 1607896	NM_001318895.3(FHL2):c.502-16C>T	C2orf49, FHL2	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 1598703	NM_001318895.3(FHL2):c.331+16T>C	C2orf49, FHL2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1590962	NM_001318895.3(FHL2):c.688+11C>T	C2orf49, FHL2	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 1587594	NM_001318895.3(FHL2):c.336C>T (p.Thr112=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 1536506	NM_001318895.3(FHL2):c.501+17C>T	C2orf49, FHL2	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 1533447	NM_001318895.3(FHL2):c.816C>T (p.Cys272=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 1531009	NM_001318895.3(FHL2):c.261G>C (p.Leu87=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant +2 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 1524358	NM_001318895.3(FHL2):c.742T>C (p.Cys248Arg)	C2orf49, FHL2 (C134R +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1516708	NM_001318895.3(FHL2):c.293C>T (p.Ser98Leu)	C2orf49, FHL2 (S98L)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1511981	NM_001318895.3(FHL2):c.219C>G (p.Asn73Lys)	C2orf49, FHL2 (N73K)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1497553	NM_001318895.3(FHL2):c.157-3C>T	C2orf49, FHL2	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1491627	NM_001318895.3(FHL2):c.337dup (p.Arg113fs)	C2orf49, FHL2 (R113fs +1 more)	Duplication (frameshift variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1454205	NM_001318895.3(FHL2):c.651T>C (p.Tyr217=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 1449600	NM_001318895.3(FHL2):c.176G>A (p.Arg59Gln)	C2orf49, FHL2 (R59Q)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1446072	NM_001318895.3(FHL2):c.224T>G (p.Leu75Arg)	C2orf49, FHL2 (L75R)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1433936	NM_001318895.3(FHL2):c.731G>A (p.Trp244Ter)	C2orf49, FHL2 (W244* +2 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1426062	NC_000002.11:g.(?_105858316)_(106002973_?)dup	GPR45, TGFBRAP1 +2 more	Duplication	not provided	GUncertain significance
Select item 1415654	NM_001318895.3(FHL2):c.720G>A (p.Glu240=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 1410668	NM_001318895.3(FHL2):c.285C>G (p.Asn95Lys)	C2orf49, FHL2 (N95K)	Single nucleotide variant (intron variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1403525	NM_001318895.3(FHL2):c.502-1G>C	C2orf49, FHL2	Single nucleotide variant (splice acceptor variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1389833	NM_001318895.3(FHL2):c.497A>G (p.Lys166Arg)	C2orf49, FHL2 (K52R +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1389348	NM_001318895.3(FHL2):c.644A>C (p.Asp215Ala)	C2orf49, FHL2 (D101A +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1388844	NM_001318895.3(FHL2):c.193T>C (p.Cys65Arg)	C2orf49, FHL2 (C65R)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1380029	NM_001318895.3(FHL2):c.211T>G (p.Cys71Gly)	C2orf49, FHL2 (C71G)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 1375970	NM_001318895.3(FHL2):c.559G>T (p.Val187Leu)	C2orf49, FHL2 (V187L +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1340175	GRCh37/hg19 2q11.2-12.2(chr2:101699537-106383710)x1	C2orf49, CNOT11 +21 more	Copy number loss	not provided	GUncertain significance
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
Select item 1288113	NM_001318895.3(FHL2):c.502-240G>A	C2orf49, FHL2	Single nucleotide variant (intron variant)	not provided	GBenign

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