C2orf49[gene] - ClinVar - NCBI

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	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 57183	GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3	C2orf49, C2orf49-DT +205 more	Copy number gain	See cases	GPathogenic
Select item 152946	GRCh38/hg38 2q11.2-12.2(chr2:100478285-106498909)x3	C2orf49, C2orf49-DT +176 more	Copy number gain	See cases	GUncertain significance
Select item 154902	GRCh38/hg38 2q11.2-12.2(chr2:101234070-105679157)x1	C2orf49, C2orf49-DT +111 more	Copy number loss	See cases	GPathogenic
Select item 149662	GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3	ACOXL, BUB1 +241 more	Copy number gain	See cases	GPathogenic
Select item 145646	GRCh38/hg38 2q11.2-12.2(chr2:102084275-106085903)x1	TMEM182, C2orf49 +113 more	Copy number loss	See cases	GLikely pathogenic
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 151418	GRCh38/hg38 2q12.1-12.2(chr2:104871270-105354003)x1	C2orf49, C2orf49-DT +21 more	Copy number loss	See cases	GUncertain significance
Select item 146152	GRCh38/hg38 2q12.1-12.2(chr2:105239034-106152100)x3	C2orf49, C2orf49-DT +41 more	Copy number gain	See cases	GBenign
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 2213844	NM_024093.3(C2orf49):c.82C>T (p.Leu28Phe)	C2orf49 (L28F)	Single nucleotide variant (missense variant)	not specified	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 180364	NM_001318895.3(FHL2):c.823T>G (p.Cys275Gly)	C2orf49, FHL2 (C275G +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 948240	NM_001318895.3(FHL2):c.820G>A (p.Asp274Asn)	C2orf49, FHL2 (D160N +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
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 1533447	NM_001318895.3(FHL2):c.816C>T (p.Cys272=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 222640	NM_001318895.3(FHL2):c.815G>A (p.Cys272Tyr)	FHL2, C2orf49 (C272Y +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +1 more	GUncertain significance
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 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 758309	NM_001318895.3(FHL2):c.801G>A (p.Arg267=)	C2orf49, FHL2	Single nucleotide variant (synonymous 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 1041941	NM_001318895.3(FHL2):c.782G>A (p.Arg261His)	C2orf49, FHL2 (R153H +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +1 more	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 1632301	NM_001318895.3(FHL2):c.759G>A (p.Lys253=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
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 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 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 640564	NM_001318895.3(FHL2):c.739G>A (p.Asp247Asn)	C2orf49, FHL2 (D139N +2 more)	Single nucleotide variant (missense variant)	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 1610958	NM_001318895.3(FHL2):c.738C>T (p.Asn246=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 1152339	NM_001318895.3(FHL2):c.735T>C (p.His245=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
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 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 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 915670	NM_001318895.3(FHL2):c.725G>A (p.Arg242Gln)	C2orf49, FHL2 (R134Q +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 48330	NM_001318895.3(FHL2):c.724C>T (p.Arg242Trp)	C2orf49, FHL2 (R242W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 843362	NM_001318895.3(FHL2):c.721G>A (p.Glu241Lys)	C2orf49, FHL2 (E133K +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	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 222639	NM_001318895.3(FHL2):c.715T>G (p.Phe239Val)	C2orf49, FHL2 (F239V +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
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 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 1013659	NM_001318895.3(FHL2):c.689-2A>G	C2orf49, FHL2	Single nucleotide variant (splice acceptor variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 48328	NM_001318895.3(FHL2):c.689-10C>G	C2orf49, FHL2	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy +2 more	GBenign
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 1590962	NM_001318895.3(FHL2):c.688+11C>T	C2orf49, FHL2	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 1141913	NM_001318895.3(FHL2):c.688+7G>A	C2orf49, FHL2	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 846975	NM_001318895.3(FHL2):c.688G>A (p.Gly230Arg)	C2orf49, FHL2 (G122R +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 179457	NM_001318895.3(FHL2):c.678C>A (p.Asn226Lys)	C2orf49, FHL2 (N226K +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 48326	NM_001318895.3(FHL2):c.678C>T (p.Asn226=)	FHL2, C2orf49	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy +3 more	GBenign
Select item 1109034	NM_001318895.3(FHL2):c.675C>A (p.Thr225=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 179618	NM_001318895.3(FHL2):c.671G>T (p.Cys224Phe)	C2orf49, FHL2 (C224F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1454205	NM_001318895.3(FHL2):c.651T>C (p.Tyr217=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
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 2147583	NM_001318895.3(FHL2):c.612T>C (p.Asp204=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 582730	NM_001318895.3(FHL2):c.610G>A (p.Asp204Asn)	C2orf49, FHL2 (D204N +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
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 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 962025	NM_001318895.3(FHL2):c.595C>T (p.Arg199Cys)	C2orf49, FHL2 (R199C +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 179081	NM_001318895.3(FHL2):c.595C>A (p.Arg199Ser)	C2orf49, FHL2 (R199S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	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 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 454295	NM_001318895.3(FHL2):c.576G>A (p.Arg192=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
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 1056397	NM_001318895.3(FHL2):c.568G>A (p.Ala190Thr)	C2orf49, FHL2 (A190T +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	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 1040905	NM_001318895.3(FHL2):c.559G>A (p.Val187Met)	C2orf49, FHL2 (V79M +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
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 643129	NM_001318895.3(FHL2):c.550G>A (p.Glu184Lys)	C2orf49, FHL2 (E184K +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
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 1671118	NM_001318895.3(FHL2):c.540C>T (p.Pro180=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 1036221	NM_001318895.3(FHL2):c.533del (p.Glu178fs)	C2orf49, FHL2 (E178fs +2 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 660869	NM_001318895.3(FHL2):c.533A>C (p.Glu178Ala)	C2orf49, FHL2 (E70A +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 48325	NM_001318895.3(FHL2):c.530G>A (p.Arg177Gln)	C2orf49, FHL2 (R177Q +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GBenign
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 228690	NM_001318895.3(FHL2):c.523A>C (p.Thr175Pro)	C2orf49, FHL2 (T175P +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 940440	NM_001318895.3(FHL2):c.521T>A (p.Val174Asp)	C2orf49, FHL2 (V174D +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 580914	NM_001318895.3(FHL2):c.521T>C (p.Val174Ala)	C2orf49, FHL2 (V174A +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
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 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 179156	NM_001318895.3(FHL2):c.512C>T (p.Thr171Met)	C2orf49, FHL2 (T171M +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 568386	NM_001318895.3(FHL2):c.509C>T (p.Thr170Ile)	C2orf49, FHL2 (T170I +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 700171	NM_001318895.3(FHL2):c.507C>T (p.Ile169=)	C2orf49, FHL2	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
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 1612186	NM_001318895.3(FHL2):c.502-5T>C	C2orf49, FHL2	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
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 1626000	NM_001318895.3(FHL2):c.502-11C>T	C2orf49, FHL2	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
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 2068628	NM_001318895.3(FHL2):c.502-13C>G	C2orf49, FHL2	Single nucleotide variant (intron 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 1288113	NM_001318895.3(FHL2):c.502-240G>A	C2orf49, FHL2	Single nucleotide variant (intron variant)	not provided	GBenign
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 2197756	NM_001318895.3(FHL2):c.501+16C>T	C2orf49, FHL2	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 1971847	NM_001318895.3(FHL2):c.501+8A>T	C2orf49, FHL2	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign

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