ClinVar for MedGen (Select 6753) - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2571636	NM_014608.6(CYFIP1):c.1348G>T (p.Ala450Ser)	CYFIP1 (A328S +4 more)	Single nucleotide variant (missense variant +1 more)	Cognitive impairment +5 more	GUncertain significance
Select item 2571631	NM_014608.6(CYFIP1):c.1798T>C (p.Phe600Leu)	CYFIP1 (F169L +6 more)	Single nucleotide variant (missense variant)	Cognitive impairment +5 more	GUncertain significance
Select item 2570677	NM_015089.4(CUL9):c.2732C>T (p.Pro911Leu)	CUL9 (P911L)	Single nucleotide variant (missense variant)	Abnormal facial shape +14 more	GUncertain significance
Select item 2570675	NM_015089.4(CUL9):c.7237C>T (p.Arg2413Trp)	CUL9 (R2413W)	Single nucleotide variant (missense variant)	Abnormal facial shape +14 more	GUncertain significance
Select item 816905	NM_002430.3(MN1):c.3839del (p.Cys1280fs)	MN1 (C1280fs)	Deletion (frameshift variant)	Atrial septal defect +1 more	GUncertain significance
Select item 816865	NM_003072.5(SMARCA4):c.2900G>A (p.Arg967His)	SMARCA4 (R967H)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 626359	NM_181486.4(TBX5):c.253C>A (p.Pro85Thr)	TBX5 (P85T +1 more)	Single nucleotide variant (missense variant)	Atrial septal defect +5 more	GLikely pathogenic
Select item 599008	NM_001308093.3(GATA4):c.94G>C (p.Ala32Pro)	GATA4 (A32P)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4 +11 more	GUncertain significance
Select item 599007	NM_006494.4(ERF):c.1636C>T (p.Arg546Ter)	ERF (R546* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +11 more	GUncertain significance
Select item 598982	NM_015311.3(OBSL1):c.3341G>A (p.Trp1114Ter)	OBSL1 (W1114*)	Single nucleotide variant (nonsense)	Coarctation of aorta +12 more	GUncertain significance
Select item 598981	NM_015311.3(OBSL1):c.2980C>T (p.Arg994Cys)	OBSL1 (R994C)	Single nucleotide variant (missense variant)	Heart block +12 more	GUncertain significance
Select item 598959	NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln)	CREBBP (R1868Q +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +12 more	GPathogenic/Likely pathogenic
Select item 598958	NM_000393.5(COL5A2):c.1842G>A (p.Met614Ile)	COL5A2 (M614I)	Single nucleotide variant (missense variant)	High palate +9 more	GUncertain significance
Select item 549661	NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp)	ACTL6A (R377W +1 more)	Single nucleotide variant (missense variant)	Atrial septal defect +14 more	GConflicting classifications of pathogenicity
Select item 523539	NM_031407.7(HUWE1):c.6485G>C (p.Arg2162Pro)	HUWE1 (R2162P)	Single nucleotide variant (missense variant)	Ventricular septal defect +7 more	GUncertain significance
Select item 523523	NM_018486.3(HDAC8):c.584T>G (p.Val195Gly)	HDAC8 (V195G +1 more)	Single nucleotide variant (missense variant +2 more)	Atrial septal defect +5 more	GLikely pathogenic
Select item 523522	NM_017780.4(CHD7):c.2867C>A (p.Ser956Ter)	CHD7 (S956*)	Single nucleotide variant (nonsense +1 more)	Pyloric stenosis +3 more	GLikely pathogenic
Select item 523513	NM_015559.3(SETBP1):c.2614G>A (p.Gly872Arg)	SETBP1 (G872R)	Single nucleotide variant (missense variant)	Atrial septal defect +7 more	GLikely pathogenic
Select item 523473	NM_004387.4(NKX2-5):c.711C>A (p.Tyr237Ter)	NKX2-5 (Y237*)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary dilated cardiomyopathy +4 more	GPathogenic
Select item 523470	NM_004006.3(DMD):c.93+1G>C	DMD	Single nucleotide variant (splice donor variant)	Elevated circulating creatine kinase concentration +2 more	GPathogenic
Select item 523383	NM_000969.5(RPL5):c.74-1G>C	DIPK1A, RPL5	Single nucleotide variant (splice acceptor variant +1 more)	Wide anterior fontanel +16 more	GPathogenic
Select item 523361	NM_000352.6(ABCC8):c.1793G>A (p.Arg598Gln)	ABCC8 (R598Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hypoglycemia +11 more	GLikely pathogenic
Select item 403212	NM_053025.4(MYLK):c.3637G>A (p.Val1213Met)	MYLK (V1213M +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 315722	NM_005159.4(ACTC1):c.-194C>A	ACTC1, GJD2-DT	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315721	NM_005159.4(ACTC1):c.-175C>A	ACTC1, GJD2-DT	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315720	NM_005159.4(ACTC1):c.-109C>A	ACTC1, GJD2-DT	Single nucleotide variant	Atrial septal defect +4 more	GUncertain significance
Select item 315719	NM_005159.4(ACTC1):c.-105C>A	ACTC1, GJD2-DT	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315718	NM_005159.4(ACTC1):c.-101G>T	ACTC1, GJD2-DT	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315715	NM_005159.5(ACTC1):c.-55C>A	GJD2-DT, ACTC1	Single nucleotide variant (5 prime UTR variant)	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315714	NM_005159.5(ACTC1):c.-55CCG[3]	ACTC1, GJD2-DT	Microsatellite (5 prime UTR variant)	Dilated Cardiomyopathy, Dominant +5 more	GConflicting classifications of pathogenicity
Select item 315713	NM_005159.5(ACTC1):c.-36C>G	ACTC1, GJD2-DT	Single nucleotide variant (5 prime UTR variant)	Dilated Cardiomyopathy, Dominant +5 more	GConflicting classifications of pathogenicity
Select item 315710	NM_005159.5(ACTC1):c.809-58TG[25]	GJD2-DT, ACTC1	Microsatellite (intron variant)	Dilated Cardiomyopathy, Dominant +9 more	GConflicting classifications of pathogenicity
Select item 315709	NM_005159.5(ACTC1):c.809-58TG[17]	ACTC1, GJD2-DT	Microsatellite (intron variant)	ACTC1-related condition +10 more	GConflicting classifications of pathogenicity
Select item 315708	NM_005159.5(ACTC1):c.809-58TG[21]	ACTC1, GJD2-DT	Microsatellite (intron variant)	Cardiovascular phenotype +10 more	GConflicting classifications of pathogenicity
Select item 315707	NM_005159.5(ACTC1):c.809-58TG[22]	GJD2-DT, ACTC1	Microsatellite (intron variant)	Dilated cardiomyopathy 1R +9 more	GConflicting classifications of pathogenicity
Select item 315706	NM_005159.5(ACTC1):c.809-58TG[26]	ACTC1, GJD2-DT	Microsatellite (intron variant)	Dilated Cardiomyopathy, Dominant +9 more	GConflicting classifications of pathogenicity
Select item 315705	NM_005159.5(ACTC1):c.809-58TG[24]	ACTC1, GJD2-DT	Microsatellite (intron variant)	Dilated Cardiomyopathy, Dominant +9 more	GConflicting classifications of pathogenicity
Select item 315704	NM_005159.5(ACTC1):c.809-12_809-11insGT	ACTC1, GJD2-DT	Insertion (intron variant)	Hypertrophic cardiomyopathy 11 +7 more	GConflicting classifications of pathogenicity
Select item 315703	NM_005159.5(ACTC1):c.978C>A (p.Thr326=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315699	NM_005159.4(ACTC1):c.*224G>C	ACTC1, GJD2-DT	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315698	NM_005159.4(ACTC1):c.*247G>A	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 315696	NM_005159.4(ACTC1):c.*284G>A	ACTC1, GJD2-DT	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315695	NM_005159.4(ACTC1):c.*307T>A	ACTC1, GJD2-DT	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315692	NM_005159.4(ACTC1):c.*422T>A	ACTC1, GJD2-DT	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315689	NM_005159.4(ACTC1):c.*561C>A	ACTC1, GJD2-DT	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315687	NM_005159.4(ACTC1):c.*643C>A	ACTC1, GJD2-DT	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315686	NM_005159.4(ACTC1):c.*646C>A	ACTC1, GJD2-DT	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315685	NM_005159.4(ACTC1):c.*674C>A	ACTC1, GJD2-DT	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315683	NM_005159.4(ACTC1):c.*708G>T	ACTC1, GJD2-DT	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315681	NM_005159.4(ACTC1):c.*739G>T	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 315678	NM_005159.4(ACTC1):c.*775C>A	ACTC1, GJD2-DT	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315671	NM_005159.4(ACTC1):c.*935G>T	ACTC1, GJD2-DT	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315670	NM_005159.4(ACTC1):c.*983C>T	ACTC1, GJD2-DT	Single nucleotide variant	Atrial septal defect +4 more	GUncertain significance
Select item 315667	NM_005159.4(ACTC1):c.*1062G>A	ACTC1, GJD2-DT	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315666	NM_005159.4(ACTC1):c.*1070A>C	ACTC1, GJD2-DT	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315665	NM_005159.4(ACTC1):c.*1090A>G	ACTC1, GJD2-DT	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315664	NM_005159.4(ACTC1):c.*1115A>T	ACTC1, GJD2-DT	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315660	NM_005159.4(ACTC1):c.*1318T>G	ACTC1, GJD2-DT	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315657	NM_005159.4(ACTC1):c.*1482G>T	ACTC1, GJD2-DT	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315656	NM_005159.4(ACTC1):c.*1502G>T	ACTC1, GJD2-DT	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315652	NM_005159.4(ACTC1):c.*1753G>T	GJD2-DT, ACTC1	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315651	NM_005159.4(ACTC1):c.*1781C>T	ACTC1, GJD2-DT	Single nucleotide variant	ACTC1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 315650	NM_005159.4(ACTC1):c.*1797C>A	ACTC1, GJD2-DT	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315646	NM_005159.4(ACTC1):c.*2168G>T	GJD2-DT, ACTC1	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 312887	NM_000257.4(MYH7):c.*113G>A	MYH6, MYH7	Single nucleotide variant (3 prime UTR variant)	Scapuloperoneal myopathy +8 more	GBenign/Likely benign
Select item 312886	NM_002471.4(MYH6):c.-64G>C	LOC114827851, MYH6 +1 more	Single nucleotide variant (5 prime UTR variant)	MYH7-related skeletal myopathy +7 more	GBenign/Likely benign
Select item 312883	NM_002471.4(MYH6):c.212T>C (p.Val71Ala)	LOC114827851, MYH6 (V71A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +8 more	GUncertain significance
Select item 312882	NM_002471.4(MYH6):c.675C>T (p.Asn225=)	MYH6	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant +2 more	GUncertain significance
Select item 312880	NM_002471.4(MYH6):c.934G>A (p.Ala312Thr)	MYH6 (A312T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance
Select item 312875	NM_002471.4(MYH6):c.1822G>A (p.Ala608Thr)	MYH6 (A608T)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 312860	NM_002471.4(MYH6):c.3604G>A (p.Val1202Met)	MYH6 (V1202M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 268042	46;XY;t(18;20)(q21.1;p11.23)dn		Translocation	Chin with horizontal crease +26 more	GUncertain significance
Select item 268037	46;XY;t(2;14)(p22;q24.3)dn		Translocation	Hypotonia +11 more	GLikely pathogenic
Select item 267941	46;XY;inv(6)(p22q13)dn		Inversion	Hypotonia +22 more	GPathogenic
Select item 267889	46;XX;inv(14)(q24.1q32.1)dn		Inversion	Cardiac arrhythmia +12 more	GUncertain significance
Select item 267884	46;XY;t(3;5)(q23;q13)dn		Translocation	Tracheomalacia +3 more	GLikely pathogenic
Select item 267847	46;XY;t(9;11)(q34;p11.2)dn		Translocation	Emotional lability +12 more	GPathogenic
Select item 267820	46;XY;t(16;20)(q11.2;q13.2)dn		Translocation	Cryptorchidism +10 more	GUncertain significance
Select item 180531	NM_005633.4(SOS1):c.1352C>A (p.Thr451Lys)	SOS1 (T451K +1 more)	Single nucleotide variant (missense variant)	Cafe au lait spots, multiple +1 more	GUncertain significance
Select item 179575	NM_002471.4(MYH6):c.3979-8dup	MYH6	Duplication (intron variant)	Dilated Cardiomyopathy, Dominant +5 more	GConflicting classifications of pathogenicity
Select item 133221	NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys)	RYR1 (E2764K)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 44499	NM_002471.4(MYH6):c.3979-7del	MYH6	Deletion (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 36658	NM_004387.4(NKX2-5):c.543G>A (p.Gln181=)	NKX2-5	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 36628	NM_002471.4(MYH6):c.3979-8del	MYH6	Deletion (intron variant)	Dilated Cardiomyopathy, Dominant +6 more	GConflicting classifications of pathogenicity
Select item 35609	NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met)	ABCC8 (V1173M +3 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes +4 more	GUncertain significance

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Items: 85