ClinVar for MedGen (Select 374868) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 375

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341419	NM_000257.4(MYH7):c.2869C>A (p.Leu957Met)	MYH7 (L957M)	Single nucleotide variant (missense variant)	Myosin storage myopathy	GUncertain significance
Select item 3233262	NM_000257.4(MYH7):c.5168T>C (p.Leu1723Pro)	LOC126861897, MHRT +1 more (L1723P)	Single nucleotide variant (non-coding transcript variant +1 more)	Myosin storage myopathy	GLikely pathogenic
Select item 3068245	NM_000257.4(MYH7):c.1482T>G (p.Phe494Leu)	MYH7 (F494L)	Single nucleotide variant (missense variant)	Myosin storage myopathy	GUncertain significance
Select item 2582517	NM_000257.4(MYH7):c.5314G>A (p.Glu1772Lys)	MYH7 (E1772K)	Single nucleotide variant (missense variant)	Myopathy, myosin storage, autosomal recessive +4 more	GUncertain significance
Select item 2500945	NM_000257.4(MYH7):c.5158-16C>G	LOC126861897, MHRT +1 more	Single nucleotide variant (intron variant)	Myosin storage myopathy	GLikely pathogenic
Select item 2500944	NM_000257.4(MYH7):c.5655+1G>A	MYH7	Single nucleotide variant (splice donor variant)	Myosin storage myopathy	GLikely pathogenic
Select item 2500943	NM_000257.4(MYH7):c.5655+4A>T	MYH7	Single nucleotide variant (intron variant)	Myosin storage myopathy	GUncertain significance
Select item 2429370	NM_000257.4(MYH7):c.5173_5175del (p.Asn1725del)	LOC126861897, MHRT +1 more (N1725del)	Deletion (non-coding transcript variant +2 more)	Myosin storage myopathy	GUncertain significance
Select item 1709717	NM_000257.4(MYH7):c.5361A>C (p.Glu1787Asp)	MYH7 (E1787D)	Single nucleotide variant (missense variant)	Myosin storage myopathy	GUncertain significance
Select item 1709419	NM_000257.4(MYH7):c.4691A>C (p.Glu1564Ala)	LOC126861897, MHRT +1 more (E1564A)	Single nucleotide variant (non-coding transcript variant +1 more)	Myosin storage myopathy	GUncertain significance
Select item 1632367	NM_000257.4(MYH7):c.4953+14G>A	LOC126861897, MHRT +1 more	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +6 more	GLikely benign
Select item 1519269	NM_000257.4(MYH7):c.4461C>G (p.Ala1487=)	MHRT, MYH7	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1S +6 more	GConflicting classifications of pathogenicity
Select item 1516996	NM_000257.4(MYH7):c.268A>G (p.Met90Val)	MYH7 (M90V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +7 more	GUncertain significance
Select item 1492829	NM_000257.4(MYH7):c.2551T>A (p.Ser851Thr)	LOC126861898, MYH7 (S851T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GUncertain significance
Select item 1481864	NM_000257.4(MYH7):c.2843C>T (p.Ser948Leu)	MYH7 (S948L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GUncertain significance
Select item 1462306	NM_000257.4(MYH7):c.3013C>G (p.Gln1005Glu)	MYH7 (Q1005E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 1435850	NM_000257.4(MYH7):c.5672C>T (p.Thr1891Ile)	MYH7 (T1891I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GUncertain significance
Select item 1410897	NM_000257.4(MYH7):c.68G>A (p.Arg23Gln)	MYH7 (R23Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GUncertain significance
Select item 1390255	NM_000257.4(MYH7):c.1879G>T (p.Ala627Ser)	MYH7 (A627S)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +6 more	GUncertain significance
Select item 1388062	NM_000257.4(MYH7):c.5037C>G (p.Asn1679Lys)	LOC126861897, MHRT +1 more (N1679K)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 1339203	NM_000257.4(MYH7):c.2335G>A (p.Glu779Lys)	LOC126861898, MYH7 (E779K)	Single nucleotide variant (missense variant)	Myosin storage myopathy +1 more	GConflicting classifications of pathogenicity
Select item 1332124	NM_000257.4(MYH7):c.976G>A (p.Ala326Thr)	MYH7 (A326T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +8 more	GUncertain significance
Select item 1284652	NM_000257.4(MYH7):c.5470A>G (p.Asn1824Asp)	MYH7 (N1824D)	Single nucleotide variant (missense variant)	Myosin storage myopathy +7 more	GUncertain significance
Select item 1273043	NM_000257.4(MYH7):c.4353+20C>T	MHRT, MYH7	Single nucleotide variant (intron variant)	Myosin storage myopathy +7 more	GBenign/Likely benign
Select item 1254616	NM_000257.4(MYH7):c.-9+23T>C	MYH7	Single nucleotide variant (intron variant)	MYH7-related skeletal myopathy +4 more	GBenign
Select item 1131820	NM_000257.4(MYH7):c.1257+7C>A	MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +6 more	GLikely benign
Select item 1104244	NM_000257.4(MYH7):c.5533C>A (p.Arg1845=)	MYH7	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +7 more	GLikely benign
Select item 1100899	NM_000257.4(MYH7):c.3711G>A (p.Gln1237=)	MYH7	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +6 more	GLikely benign
Select item 1091696	NM_000257.4(MYH7):c.3237G>C (p.Arg1079=)	MYH7	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +8 more	GLikely benign
Select item 1040581	NM_000257.4(MYH7):c.3107G>A (p.Gly1036Glu)	MYH7 (G1036E)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 1023003	NM_000257.4(MYH7):c.1888C>A (p.Pro630Thr)	MYH7 (P630T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1011193	NM_000257.4(MYH7):c.3028C>T (p.Leu1010Phe)	MYH7 (L1010F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 1006817	NM_000257.4(MYH7):c.9T>G (p.Asp3Glu)	MYH7 (D3E)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GUncertain significance
Select item 1006322	NM_000257.4(MYH7):c.899T>C (p.Met300Thr)	MYH7 (M300T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GUncertain significance
Select item 1003930	NM_000257.4(MYH7):c.76G>A (p.Ala26Thr)	MYH7 (A26T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GUncertain significance
Select item 987797	NM_000257.4(MYH7):c.3245+2T>G	MYH7	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy +9 more	GUncertain significance
Select item 986378	NM_000257.4(MYH7):c.5655+1G>C	MYH7	Single nucleotide variant (splice donor variant)	Myosin storage myopathy	GLikely pathogenic
Select item 976304	NM_000257.4(MYH7):c.4978G>C (p.Ala1660Pro)	LOC126861897, MHRT +1 more (A1660P)	Single nucleotide variant (non-coding transcript variant +1 more)	Myosin storage myopathy	GUncertain significance
Select item 976028	NM_000257.4(MYH7):c.4285_4287del (p.Met1429del)	MHRT, MYH7 (M1429del)	Deletion (non-coding transcript variant +1 more)	Myosin storage myopathy	GUncertain significance
Select item 971327	NM_000257.4(MYH7):c.3721G>T (p.Ala1241Ser)	MYH7 (A1241S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 945432	NM_000257.4(MYH7):c.3589G>A (p.Ala1197Thr)	MYH7 (A1197T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 937186	NM_000257.4(MYH7):c.3711G>C (p.Gln1237His)	MYH7 (Q1237H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 927894	NM_000257.4(MYH7):c.4819A>G (p.Ser1607Gly)	LOC126861897, MHRT +1 more (S1607G)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1S +7 more	GUncertain significance
Select item 927631	NM_000257.4(MYH7):c.4953+4C>T	MHRT, LOC126861897 +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1S +6 more	GUncertain significance
Select item 927028	NM_000257.4(MYH7):c.124G>A (p.Asp42Asn)	MYH7 (D42N)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1S +7 more	GConflicting classifications of pathogenicity
Select item 926826	NM_000257.4(MYH7):c.4641C>T (p.Ala1547=)	MHRT, MYH7	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1S +9 more	GBenign/Likely benign
Select item 926746	NM_000257.4(MYH7):c.3200T>C (p.Met1067Thr)	MYH7 (M1067T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1S +8 more	GUncertain significance
Select item 925951	NM_000257.4(MYH7):c.3337-2_3337delinsCAGA	MYH7	Indel (splice acceptor variant)	Dilated cardiomyopathy 1S +7 more	GUncertain significance
Select item 925746	NM_000257.4(MYH7):c.5671A>G (p.Thr1891Ala)	MYH7 (T1891A)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1S +9 more	GUncertain significance
Select item 925499	NM_000257.4(MYH7):c.3294G>T (p.Gln1098His)	MYH7 (Q1098H)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1S +6 more	GUncertain significance
Select item 924864	NM_000257.4(MYH7):c.4894G>A (p.Ala1632Thr)	MHRT, LOC126861897 +1 more (A1632T)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1S +10 more	GUncertain significance
Select item 924086	NM_000257.4(MYH7):c.2819A>T (p.Lys940Met)	MYH7 (K940M)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1S +6 more	GUncertain significance
Select item 921689	NM_000257.4(MYH7):c.639+5G>T	MYH7	Single nucleotide variant (intron variant)	Congenital myopathy with fiber type disproportion +7 more	GUncertain significance
Select item 920072	NM_000257.4(MYH7):c.4251C>G (p.Thr1417=)	MYH7	Single nucleotide variant (synonymous variant)	Congenital myopathy with fiber type disproportion +8 more	GLikely benign
Select item 919218	NM_000257.4(MYH7):c.3100-2A>C	MYH7	Single nucleotide variant (splice acceptor variant)	Congenital myopathy with fiber type disproportion +10 more	GConflicting classifications of pathogenicity
Select item 918999	NM_000257.4(MYH7):c.2677G>A (p.Ala893Thr)	LOC126861898, MYH7 (A893T)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +8 more	GUncertain significance
Select item 918220	NM_000257.4(MYH7):c.5587C>T (p.Arg1863Trp)	MYH7 (R1863W)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +8 more	GUncertain significance
Select item 884147	NM_000257.4(MYH7):c.5793C>T (p.Gly1931=)	MYH7	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 883660	NM_000257.4(MYH7):c.3030T>G (p.Leu1010=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 883335	NM_000257.4(MYH7):c.5087A>G (p.Glu1696Gly)	LOC126861897, MHRT +1 more (E1696G)	Single nucleotide variant (non-coding transcript variant +1 more)	Myosin storage myopathy +3 more	GUncertain significance
Select item 882969	NM_000257.4(MYH7):c.2424-7C>T	LOC126861898, MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 882831	NM_000257.4(MYH7):c.3558G>A (p.Glu1186=)	MYH7	Single nucleotide variant (synonymous variant)	Myosin storage myopathy +3 more	GUncertain significance
Select item 882442	NM_000257.4(MYH7):c.*81G>A	MYH7	Single nucleotide variant (3 prime UTR variant)	Myosin storage myopathy +3 more	GUncertain significance
Select item 882333	NM_000257.4(MYH7):c.4872G>A (p.Glu1624=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 881318	NM_000257.4(MYH7):c.2981A>G (p.Lys994Arg)	MYH7 (K994R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 881069	NM_000257.4(MYH7):c.4395G>A (p.Ser1465=)	MHRT, MYH7	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 880973	NM_000257.4(MYH7):c.4953+6C>A	LOC126861897, MHRT +1 more	Single nucleotide variant (intron variant)	Myosin storage myopathy +3 more	GUncertain significance
Select item 880735	NM_000257.4(MYH7):c.639+13C>T	MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 864287	NM_000257.4(MYH7):c.3137T>G (p.Met1046Arg)	MYH7 (M1046R)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GUncertain significance
Select item 862006	NM_000257.4(MYH7):c.345+1G>A	MYH7	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 859133	NM_000257.4(MYH7):c.3110C>A (p.Ser1037Tyr)	MYH7 (S1037Y)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +9 more	GUncertain significance
Select item 851259	NM_000257.4(MYH7):c.2137A>G (p.Ile713Val)	MYH7 (I713V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +8 more	GUncertain significance
Select item 844446	NM_000257.4(MYH7):c.4519+6C>T	MHRT, MYH7	Single nucleotide variant (intron variant)	MYH7-related skeletal myopathy +5 more	GConflicting classifications of pathogenicity
Select item 840785	NM_000257.4(MYH7):c.3457G>A (p.Ala1153Thr)	MYH7 (A1153T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +8 more	GUncertain significance
Select item 838150	NM_000257.4(MYH7):c.4643A>T (p.Glu1548Val)	MHRT, MYH7 (E1548V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +7 more	GUncertain significance
Select item 838063	NM_000257.4(MYH7):c.5725C>T (p.Arg1909Trp)	MYH7 (R1909W)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GUncertain significance
Select item 701138	NM_000257.4(MYH7):c.1368C>T (p.Phe456=)	MYH7	Single nucleotide variant (synonymous variant)	Myosin storage myopathy +5 more	GConflicting classifications of pathogenicity
Select item 700973	NM_000257.4(MYH7):c.3942C>T (p.Asp1314=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +9 more	GBenign/Likely benign
Select item 689588	NM_000257.4(MYH7):c.3866G>A (p.Arg1289Gln)	MYH7 (R1289Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +9 more	GUncertain significance
Select item 684823	NM_000257.4(MYH7):c.936C>A (p.Phe312Leu)	MYH7 (F312L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +9 more	GUncertain significance
Select item 681016	NM_000257.4(MYH7):c.801T>C (p.Leu267=)	MYH7	Single nucleotide variant (synonymous variant)	MYH7-related skeletal myopathy +4 more	GConflicting classifications of pathogenicity
Select item 662627	NM_000257.4(MYH7):c.5655+5G>A	MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 660218	NM_000257.4(MYH7):c.4756G>A (p.Ala1586Thr)	MHRT, LOC126861897 +1 more (A1586T)	Single nucleotide variant (non-coding transcript variant +1 more)	Conduction disorder of the heart +9 more	GUncertain significance
Select item 658282	NM_000257.4(MYH7):c.3229G>T (p.Asp1077Tyr)	MYH7 (D1077Y)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +8 more	GUncertain significance
Select item 657077	NM_000257.4(MYH7):c.4440G>T (p.Glu1480Asp)	MHRT, MYH7 (E1480D)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +8 more	GUncertain significance
Select item 653905	NM_000257.4(MYH7):c.5470_5471delinsGG (p.Asn1824Gly)	MYH7 (N1824G)	Indel (missense variant)	Hypertrophic cardiomyopathy +10 more	GUncertain significance
Select item 647534	NM_000257.4(MYH7):c.4097C>T (p.Ser1366Leu)	MYH7 (S1366L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 636549	NM_000257.4(MYH7):c.2765T>C (p.Met922Thr)	MYH7 (M922T)	Single nucleotide variant (missense variant)	Myosin storage myopathy +6 more	GConflicting classifications of pathogenicity
Select item 629672	NM_000257.4(MYH7):c.3460G>A (p.Gly1154Ser)	MYH7 (G1154S)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 626820	NM_000257.4(MYH7):c.2731A>T (p.Asn911Tyr)	MYH7 (N911Y)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GUncertain significance
Select item 626809	NM_000257.4(MYH7):c.5386C>T (p.Arg1796Trp)	MYH7 (R1796W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GUncertain significance
Select item 619082	NM_000257.4(MYH7):c.541G>A (p.Gly181Arg)	MYH7 (G181R)	Single nucleotide variant (missense variant)	Myopathy, myosin storage, autosomal recessive +9 more	GConflicting classifications of pathogenicity
Select item 583310	NM_000257.4(MYH7):c.4775G>A (p.Arg1592Gln)	LOC126861897, MHRT +1 more (R1592Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +7 more	GUncertain significance
Select item 578491	NM_000257.4(MYH7):c.2053del (p.Asp685fs)	MYH7 (D685fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy +8 more	GUncertain significance
Select item 571738	NM_000257.4(MYH7):c.5737G>A (p.Ala1913Thr)	MYH7 (A1913T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +9 more	GUncertain significance
Select item 570973	NM_000257.4(MYH7):c.985C>T (p.Leu329Phe)	MYH7 (L329F)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GUncertain significance
Select item 569842	NM_000257.4(MYH7):c.5458C>G (p.Arg1820Gly)	MYH7 (R1820G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +8 more	GUncertain significance
Select item 567905	NM_000257.4(MYH7):c.2556G>A (p.Met852Ile)	LOC126861898, MYH7 (M852I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 525118	NM_000257.4(MYH7):c.3789G>T (p.Ala1263=)	MYH7	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 525034	NM_000257.4(MYH7):c.1495GAG[1] (p.Glu500del)	MYH7 (E500del)	Microsatellite (inframe_deletion)	Hypertrophic cardiomyopathy	GUncertain significance

<< First< Prev

Page of 4