C0007194[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12411	NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)	TNNT2 (R278C +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 788	NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)	GPD1L (I124V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 638278	NM_001042424.3(NSD2):c.3295G>A (p.Glu1099Lys)	NSD2 (E1099K)	Single nucleotide variant (missense variant)	Anemia +14 more	GConflicting classifications of pathogenicity
Select item 976212	NM_022902.5(SLC30A5):c.832_836del (p.Ile278fs)	SLC30A5 (I278fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy +4 more	GLikely pathogenic
Select item 988899	NM_022902.5(SLC30A5):c.1981_1982del (p.His661fs)	SLC30A5 (H661fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy +4 more	GLikely pathogenic
Select item 42735	NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)	MYBPC3 (Q1233*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1I +8 more	GPathogenic/Likely pathogenic
Select item 8604	NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met)	MYBPC3 (V1125M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 164042	NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs)	MYBPC3	Deletion	Hypertrophic cardiomyopathy +5 more	GPathogenic
Select item 42650	NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter)	MYBPC3 (W890*)	Single nucleotide variant (nonsense)	Cardiomyopathy +5 more	GPathogenic
Select item 180970	NM_000256.3(MYBPC3):c.2459G>C (p.Arg820Pro)	MYBPC3 (R820P)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 42619	NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs)	MYBPC3 (W792fs)	Duplication	Cardiovascular phenotype +6 more	GPathogenic
Select item 36604	NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)	MYBPC3 (D770N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 42576	NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His)	MYBPC3 (D610H)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 42550	NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)	MYBPC3 (G531R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +7 more	GConflicting classifications of pathogenicity
Select item 976255	NM_000256.3(MYBPC3):c.1549G>T (p.Ala517Ser)	MYBPC3 (A517S)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +2 more	GUncertain significance
Select item 181070	NM_000256.3(MYBPC3):c.1543_1545del (p.Asn515del)	MYBPC3 (N515del)	Deletion (inframe_deletion)	Cardiomyopathy +4 more	GUncertain significance
Select item 164113	NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)	MYBPC3 (R495Q)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 42536	NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg)	MYBPC3 (G490R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 861189	NM_000256.3(MYBPC3):c.1223+1G>T	MYBPC3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy +1 more	GPathogenic
Select item 181058	NM_000256.3(MYBPC3):c.1084A>G (p.Ser362Gly)	MYBPC3 (S362G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +3 more	GConflicting classifications of pathogenicity
Select item 960010	NM_000256.3(MYBPC3):c.999C>A (p.Tyr333Ter)	MYBPC3 (Y333*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 42806	NM_000256.3(MYBPC3):c.927-2A>G	MYBPC3	Single nucleotide variant (splice acceptor variant)	Cardiomyopathy +5 more	GPathogenic
Select item 42807	NM_000256.3(MYBPC3):c.927-9G>A	MYBPC3	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +5 more	GPathogenic
Select item 42792	NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)	MYBPC3 (E258K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +6 more	GPathogenic/Likely pathogenic
Select item 161304	NM_000256.3(MYBPC3):c.682G>A (p.Asp228Asn)	MYBPC3 (D228N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 982991	NM_000256.3(MYBPC3):c.493G>A (p.Glu165Lys)	MYBPC3 (E165K)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +1 more	GUncertain significance
Select item 42644	NM_000256.3(MYBPC3):c.26-2A>G	MYBPC3	Single nucleotide variant (splice acceptor variant)	Cardiomyopathy +7 more	GPathogenic/Likely pathogenic
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 43009	NM_000257.4(MYH7):c.4348G>A (p.Asp1450Asn)	MHRT, MYH7 (D1450N)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 1021629	NM_000257.4(MYH7):c.3847G>A (p.Glu1283Lys)	MYH7 (E1283K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1S +2 more	GUncertain significance
Select item 179656	NM_000257.4(MYH7):c.3613G>A (p.Glu1205Lys)	MYH7 (E1205K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 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)	Cardiovascular phenotype +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 42921	NM_000257.4(MYH7):c.2644C>G (p.Gln882Glu)	LOC126861898, MYH7 (Q882E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +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 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 13505	NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	POLG, POLGARF (P587L)	Single nucleotide variant (missense variant)	Global developmental delay +14 more	GConflicting classifications of pathogenicity
Select item 13503	NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	POLG, POLGARF (T251I)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +15 more	GConflicting classifications of pathogenicity
Select item 10738	NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)	GLA, RPL36A-HNRNPH2 (D313Y)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity; other
Select item 9589	NC_012920.1(MT-TL1):m.3243A>G	MT-TL1	Single nucleotide variant	not specified +12 more	GPathogenic/Likely pathogenic

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Items: 42