ClinVar for MedGen (Select 209232) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233632	NM_000373.4(UMPS):c.188del (p.Asn63fs)	UMPS (N63fs)	Deletion (frameshift variant +1 more)	Oroticaciduria +1 more	GPathogenic
Select item 3076035	NM_000256.3(MYBPC3):c.77dup (p.Ala27fs)	MYBPC3 (A27fs)	Duplication (frameshift variant)	Cardiomyopathy	GPathogenic
Select item 3075740	NM_000257.4(MYH7):c.3346G>T (p.Glu1116Ter)	MYH7 (E1116*)	Single nucleotide variant (nonsense)	Cardiomyopathy	GLikely pathogenic
Select item 3075486	NM_000257.4(MYH7):c.3666C>A (p.Ser1222Arg)	MYH7 (S1222R)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3075470	NM_000257.4(MYH7):c.1258-2A>T	MYH7	Single nucleotide variant (splice acceptor variant)	Cardiomyopathy	GUncertain significance
Select item 3075469	NM_000257.4(MYH7):c.1258-3C>A	MYH7	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 3075437	NM_001276345.2(TNNT2):c.719+1G>A	TNNT2	Single nucleotide variant (splice donor variant)	Cardiomyopathy	GUncertain significance
Select item 3075430	NM_000257.4(MYH7):c.3417G>C (p.Leu1139=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3075424	NM_000257.4(MYH7):c.4848G>A (p.Lys1616=)	MHRT, LOC126861897 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GLikely benign
Select item 3075409	NM_000257.4(MYH7):c.4645-10C>A	LOC126861897, MHRT +1 more	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 3075401	NM_000257.4(MYH7):c.5489A>G (p.Gln1830Arg)	MYH7 (Q1830R)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3075379	NM_001276345.2(TNNT2):c.419G>T (p.Arg140Leu)	TNNT2 (R100L +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3075358	NM_000257.4(MYH7):c.5108A>G (p.Glu1703Gly)	MHRT, LOC126861897 +1 more (E1703G)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3075333	NM_000257.4(MYH7):c.3814G>C (p.Asp1272His)	MYH7 (D1272H)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3075229	NM_000257.4(MYH7):c.1652A>T (p.Lys551Met)	MYH7 (K551M)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3075224	NM_001276345.2(TNNT2):c.188A>G (p.Lys63Arg)	TNNT2 (K48R +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3075216	NM_000257.4(MYH7):c.397G>T (p.Val133Leu)	MYH7 (V133L)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3075214	NM_000257.4(MYH7):c.3254_3255del (p.Asp1084_Phe1085insTer)	MYH7	Deletion (nonsense)	Cardiomyopathy	GUncertain significance
Select item 3075207	NM_000257.4(MYH7):c.5267A>G (p.Lys1756Arg)	LOC126861897, MYH7 (K1756R)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3075202	NM_000257.4(MYH7):c.1577dup (p.Pro527fs)	MYH7 (P527fs)	Duplication (frameshift variant)	Cardiomyopathy	GUncertain significance
Select item 3075186	NM_000257.4(MYH7):c.4777G>T (p.Val1593Leu)	LOC126861897, MHRT +1 more (V1593L)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3075175	NM_001276345.2(TNNT2):c.64G>A (p.Glu22Lys)	TNNT2 (E22K)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3075154	NM_000257.4(MYH7):c.3843A>T (p.Gln1281His)	MYH7 (Q1281H)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3075149	NM_000257.4(MYH7):c.1448A>G (p.Glu483Gly)	MYH7 (E483G)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3075137	NM_000257.4(MYH7):c.5744C>G (p.Ser1915Cys)	MYH7 (S1915C)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3075099	NM_001276345.2(TNNT2):c.173A>G (p.Glu58Gly)	TNNT2 (E43G +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3075059	NM_001276345.2(TNNT2):c.185C>A (p.Ala62Glu)	TNNT2 (A47E +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3075033	NM_000257.4(MYH7):c.4590A>C (p.Arg1530=)	MHRT, MYH7	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy	GLikely benign
Select item 3074934	NM_001276345.2(TNNT2):c.164-12T>C	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 3074899	NM_000257.4(MYH7):c.3245+4_3245+5del	MYH7	Deletion (intron variant)	Cardiomyopathy	GUncertain significance
Select item 3074815	NM_000257.4(MYH7):c.2712C>A (p.Arg904=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3074765	NM_000257.4(MYH7):c.2983G>A (p.Glu995Lys)	MYH7 (E995K)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3074760	NM_000257.4(MYH7):c.2604T>C (p.Ala868=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3074736	NM_000257.4(MYH7):c.186G>C (p.Glu62Asp)	MYH7 (E62D)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3074698	NM_000257.4(MYH7):c.4236C>G (p.Ser1412=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3074692	NM_000257.4(MYH7):c.3681G>A (p.Glu1227=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3074613	NM_001276345.2(TNNT2):c.610-8C>A	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 3074597	NM_000257.4(MYH7):c.3926C>G (p.Thr1309Ser)	MYH7 (T1309S)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3074588	NM_000257.4(MYH7):c.2922+5G>A	MYH7	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 3074548	NM_001276345.2(TNNT2):c.412-9T>A	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 3074506	NM_001276345.2(TNNT2):c.688G>T (p.Ala230Ser)	TNNT2 (A187S +7 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3074434	NM_000257.4(MYH7):c.2460C>T (p.Ala820=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3074424	NM_000257.4(MYH7):c.4550G>C (p.Gly1517Ala)	MHRT, MYH7 (G1517A)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3074402	NM_000257.4(MYH7):c.3499C>T (p.Arg1167Cys)	MYH7 (R1167C)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3074372	NM_000257.4(MYH7):c.4356C>G (p.Ile1452Met)	MHRT, MYH7 (I1452M)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3074349	NM_000257.4(MYH7):c.733-14T>C	MYH7	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 3074338	NM_000257.4(MYH7):c.-8-6C>T	MYH7	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 3074334	NM_000257.4(MYH7):c.966C>T (p.Ser322=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3074325	NM_000257.4(MYH7):c.2820G>A (p.Lys940=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3074318	NM_000257.4(MYH7):c.3957G>A (p.Leu1319=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3074311	NM_000257.4(MYH7):c.533_538dup (p.Ser180Ter)	MYH7 (S180*)	Duplication (nonsense)	Cardiomyopathy	GUncertain significance
Select item 3074308	NM_000257.4(MYH7):c.3049G>A (p.Val1017Ile)	MYH7 (V1017I)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3074196	NM_000257.4(MYH7):c.1923C>A (p.Gly641=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3074187	NM_000257.4(MYH7):c.4557C>A (p.Ser1519Arg)	MHRT, MYH7 (S1519R)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3074182	NM_000257.4(MYH7):c.3887C>A (p.Ala1296Glu)	MYH7 (A1296E)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3074176	NM_001276345.2(TNNT2):c.510G>A (p.Glu170=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3074146	NM_000257.4(MYH7):c.3193A>G (p.Ser1065Gly)	MYH7 (S1065G)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3074082	NM_000257.4(MYH7):c.5103G>A (p.Leu1701=)	MHRT, LOC126861897 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GLikely benign
Select item 3074044	NM_000257.4(MYH7):c.4353+3G>A	MHRT, MYH7	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 3074012	NM_000257.4(MYH7):c.5495G>T (p.Arg1832Leu)	MYH7 (R1832L)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3073996	NM_000257.4(MYH7):c.4529C>T (p.Ser1510Phe)	MHRT, MYH7 (S1510F)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3073988	NM_000257.4(MYH7):c.1373G>A (p.Gly458Glu)	MYH7 (G458E)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3073970	NM_000257.4(MYH7):c.3094del (p.Asp1032fs)	MYH7 (D1032fs)	Deletion (frameshift variant)	Cardiomyopathy	GUncertain significance
Select item 3073969	NM_000257.4(MYH7):c.3972+1G>A	MYH7	Single nucleotide variant (splice donor variant)	Cardiomyopathy	GUncertain significance
Select item 3073953	NM_001276345.2(TNNT2):c.412G>T (p.Glu138Ter)	TNNT2 (E123* +4 more)	Single nucleotide variant (nonsense)	Cardiomyopathy	GUncertain significance
Select item 3073943	NM_001276345.2(TNNT2):c.181G>A (p.Glu61Lys)	TNNT2 (E46K +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3073927	NM_000257.4(MYH7):c.2408del (p.Lys803fs)	LOC126861898, MYH7 (K803fs)	Deletion (frameshift variant)	Cardiomyopathy	GUncertain significance
Select item 3073863	NM_001276345.2(TNNT2):c.793A>C (p.Lys265Gln)	TNNT2 (K222Q +7 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3073829	NM_000257.4(MYH7):c.167G>A (p.Gly56Asp)	MYH7 (G56D)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3073811	NM_000257.4(MYH7):c.2123G>A (p.Gly708Asp)	MYH7 (G708D)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3073782	NM_000257.4(MYH7):c.5334C>G (p.His1778Gln)	MYH7 (H1778Q)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3073746	NM_000257.4(MYH7):c.254A>G (p.Asp85Gly)	MYH7 (D85G)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3073732	NM_000257.4(MYH7):c.3717C>G (p.Ile1239Met)	MYH7 (I1239M)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3073685	NM_000257.4(MYH7):c.3727-15T>C	MYH7	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 3073670	NM_000257.4(MYH7):c.2034A>G (p.Thr678=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3073634	NM_000257.4(MYH7):c.1344G>A (p.Glu448=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3073630	NM_001276345.2(TNNT2):c.67+4T>C	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 3073600	NM_000257.4(MYH7):c.5314G>C (p.Glu1772Gln)	MYH7 (E1772Q)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3073573	NM_001276345.2(TNNT2):c.163+2T>G	TNNT2	Single nucleotide variant (splice donor variant)	Cardiomyopathy	GUncertain significance
Select item 3073533	NM_000257.4(MYH7):c.4506C>T (p.Asn1502=)	MHRT, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GUncertain significance
Select item 3073528	NM_000257.4(MYH7):c.2802T>C (p.Ala934=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3073522	NM_000257.4(MYH7):c.4589G>T (p.Arg1530Leu)	MHRT, MYH7 (R1530L)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3073508	NM_000257.4(MYH7):c.5415C>T (p.Leu1805=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3073494	NM_000257.4(MYH7):c.2975T>C (p.Leu992Pro)	MYH7 (L992P)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3073483	NM_000257.4(MYH7):c.5069C>T (p.Ala1690Val)	LOC126861897, MHRT +1 more (A1690V)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3073466	NM_000257.4(MYH7):c.2587C>G (p.Leu863Val)	LOC126861898, MYH7 (L863V)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3073427	NM_000257.4(MYH7):c.4570C>T (p.His1524Tyr)	MHRT, MYH7 (H1524Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3073411	NM_000257.4(MYH7):c.5394C>A (p.Asp1798Glu)	MYH7 (D1798E)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3073405	NM_000257.4(MYH7):c.1965G>C (p.Leu655=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3073392	NM_000257.4(MYH7):c.2424-15A>G	LOC126861898, MYH7	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 3073354	NM_001276345.2(TNNT2):c.685C>T (p.Leu229=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3073345	NM_000257.4(MYH7):c.4536G>C (p.Leu1512Phe)	MHRT, MYH7 (L1512F)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3073315	NM_000257.4(MYH7):c.3955C>G (p.Leu1319Val)	MYH7 (L1319V)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 3073283	NM_000257.4(MYH7):c.140T>A (p.Val47Asp)	MYH7 (V47D)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3073212	NM_000257.4(MYH7):c.4604C>A (p.Ala1535Asp)	MHRT, MYH7 (A1535D)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3073210	NM_000257.4(MYH7):c.2308C>T (p.Leu770=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3073209	NM_000257.4(MYH7):c.2307G>T (p.Leu769=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3073204	NM_000257.4(MYH7):c.4236C>T (p.Ser1412=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3073202	NM_001276345.2(TNNT2):c.48G>T (p.Gln16His)	TNNT2 (Q16H)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3073167	NM_001276345.2(TNNT2):c.390C>G (p.Leu130=)	TNNT2	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy	GLikely benign

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