"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

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

Search results

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 36642	NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)	LOC126861897, MHRT +1 more (R1712Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 976304	NM_000257.4(MYH7):c.4978G>C (p.Ala1660Pro)	MHRT, LOC126861897 +1 more (A1660P)	Single nucleotide variant (non-coding transcript variant +1 more)	Myosin storage myopathy	GUncertain significance
Select item 43009	NM_000257.4(MYH7):c.4348G>A (p.Asp1450Asn)	MHRT, MYH7 (D1450N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
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 181248	NM_000257.4(MYH7):c.4199C>G (p.Ala1400Gly)	MYH7 (A1400G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1021629	NM_000257.4(MYH7):c.3847G>A (p.Glu1283Lys)	MYH7 (E1283K)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 179656	NM_000257.4(MYH7):c.3613G>A (p.Glu1205Lys)	MYH7 (E1205K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 42956	NM_000257.4(MYH7):c.3337-4dup	MYH7	Duplication	Cardiomyopathy	GBenign FDA Recognized database
Select item 42953	NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)	MYH7 (D1096Y)	Single nucleotide variant (missense variant)	Cardiomyopathy	GLikely benign FDA Recognized database
Select item 42938	NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)	MYH7 (V964L)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 181205	NM_000257.4(MYH7):c.2761G>A (p.Glu921Lys)	MYH7 (E921K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1S +3 more	GLikely pathogenic
Select item 228905	NM_000257.4(MYH7):c.2704G>A (p.Glu902Lys)	MYH7 (E902K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 132908	NM_000257.4(MYH7):c.2686G>A (p.Asp896Asn)	MYH7 (D896N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 42921	NM_000257.4(MYH7):c.2644C>G (p.Gln882Glu)	LOC126861898, MYH7 (Q882E)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 42910	NM_000257.4(MYH7):c.2513C>T (p.Pro838Leu)	LOC126861898, MYH7 (P838L)	Single nucleotide variant (missense variant)	Restrictive cardiomyopathy	GPathogenic FDA Recognized database
Select item 132914	NM_000257.4(MYH7):c.2163-1G>A	MYH7	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1S	GPathogenic
Select item 982994	NM_000257.4(MYH7):c.1614C>A (p.Cys538Ter)	MYH7 (C538*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1S	GUncertain significance
Select item 14102	NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)	MYH7 (R403W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 42822	NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln)	MYH7 (R369Q)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 1285419	NM_000257.4(MYH7):c.571G>A (p.Val191Ile)	MYH7 (V191I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1S	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 20