"Revvity Omics, Revvity"[submitter] AND "MHRT"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433924	NM_000257.4(MYH7):c.5201T>G (p.Leu1734Arg)	LOC126861897, MHRT +1 more (L1734R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2433937	NM_000257.4(MYH7):c.5194G>C (p.Ala1732Pro)	LOC126861897, MHRT +1 more (A1732P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 1987751	NM_000257.4(MYH7):c.5132A>G (p.Glu1711Gly)	LOC126861897, MHRT +1 more (E1711G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 222731	NM_000257.4(MYH7):c.5071G>A (p.Val1691Met)	LOC126861897, MHRT +1 more (V1691M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GUncertain significance
Select item 143216	NM_000257.4(MYH7):c.5005_5007del (p.Glu1669del)	LOC126861897, MHRT +1 more (E1669del)	Deletion (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 217461	NM_000257.4(MYH7):c.4992C>A (p.Asn1664Lys)	LOC126861897, MHRT +1 more (N1664K)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy 1 +4 more	GConflicting classifications of pathogenicity
Select item 43049	NM_000257.4(MYH7):c.4985G>A (p.Arg1662His)	LOC126861897, MHRT +1 more (R1662H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 849036	NM_000257.4(MYH7):c.4984C>T (p.Arg1662Cys)	LOC126861897, MHRT +1 more (R1662C)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +3 more	GUncertain significance
Select item 43047	NM_000257.4(MYH7):c.4954G>T (p.Asp1652Tyr)	LOC126861897, MHRT +1 more (D1652Y)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 218434	NM_000257.4(MYH7):c.4915G>A (p.Ala1639Thr)	LOC126861897, MHRT +1 more (A1639T)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 525029	NM_000257.4(MYH7):c.4909G>C (p.Ala1637Pro)	LOC126861897, MHRT +1 more (A1637P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 43044	NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr)	LOC126861897, MHRT +1 more (A1637T)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GLikely benign FDA Recognized database
Select item 222730	NM_000257.4(MYH7):c.4901G>A (p.Arg1634His)	LOC126861897, MHRT +1 more (R1634H)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +10 more	GUncertain significance
Select item 190401	NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del)	MHRT, MYH7 +1 more (K1617del)	Microsatellite (inframe_deletion +1 more)	MYH7-related skeletal myopathy +3 more	GPathogenic/Likely pathogenic
Select item 312894	NM_000257.4(MYH7):c.4828G>A (p.Glu1610Lys)	LOC126861897, MHRT +1 more (E1610K)	Single nucleotide variant (non-coding transcript variant +1 more)	Left ventricular noncompaction cardiomyopathy +6 more	GUncertain significance
Select item 43039	NM_000257.4(MYH7):c.4817G>A (p.Arg1606His)	LOC126861897, MHRT +1 more (R1606H)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 181266	NM_000257.4(MYH7):c.4807G>A (p.Ala1603Thr)	LOC126861897, MHRT +1 more (A1603T)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +9 more	GUncertain significance
Select item 1399659	NM_000257.4(MYH7):c.4802T>C (p.Leu1601Pro)	LOC126861897, MHRT +1 more (L1601P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 181265	NM_000257.4(MYH7):c.4772T>A (p.Leu1591Gln)	LOC126861897, MHRT +1 more (L1591Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +9 more	GUncertain significance
Select item 228912	NM_000257.4(MYH7):c.4721G>A (p.Arg1574Gln)	LOC126861897, MHRT +1 more (R1574Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GUncertain significance
Select item 2433944	NM_000257.4(MYH7):c.4700A>C (p.Gln1567Pro)	LOC126861897, MHRT +1 more (Q1567P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 524978	NM_000257.4(MYH7):c.4648T>C (p.Ser1550Pro)	LOC126861897, MHRT +1 more (S1550P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 928850	NM_000257.4(MYH7):c.4616A>G (p.Glu1539Gly)	MHRT, MYH7 (E1539G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 407178	NM_000257.4(MYH7):c.4558G>A (p.Gly1520Arg)	MHRT, MYH7 (G1520R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 2433929	NM_000257.4(MYH7):c.4555A>G (p.Ser1519Gly)	MHRT, MYH7 (S1519G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2433936	NM_000257.4(MYH7):c.4547T>A (p.Leu1516Ter)	MHRT, MYH7 (L1516*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 43023	NM_000257.3(MYH7):c.4522_4524del	MHRT, MYH7	Microsatellite (splice acceptor variant +1 more)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 407177	NM_000257.4(MYH7):c.4520-3C>T	MHRT, MYH7	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 180439	NM_000257.4(MYH7):c.4499G>A (p.Arg1500Gln)	MHRT, MYH7 (R1500Q)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance FDA Recognized database
Select item 14115	NM_000257.4(MYH7):c.4499G>C (p.Arg1500Pro)	MHRT, MYH7 (R1500P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1054697	NM_000257.4(MYH7):c.4493_4494delinsAT (p.Phe1498Tyr)	MHRT, MYH7 (F1498Y)	Indel (missense variant)	not provided +3 more	GUncertain significance
Select item 2689494	NM_000257.4(MYH7):c.4493T>A (p.Phe1498Tyr)	MHRT, MYH7 (F1498Y)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 180072	NM_000257.4(MYH7):c.4481A>T (p.His1494Leu)	MHRT, MYH7 (H1494L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1010840	NM_000257.4(MYH7):c.4467G>C (p.Glu1489Asp)	MHRT, MYH7 (E1489D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 521622	NM_000257.4(MYH7):c.4414_4416del (p.Lys1472del)	MHRT, MYH7 (K1472del)	Deletion (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 43015	NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val)	MHRT, MYH7 (L1467V)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 915734	NM_000257.4(MYH7):c.4394C>T (p.Ser1465Leu)	MHRT, MYH7 (S1465L)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +2 more	GUncertain significance
Select item 43012	NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)	MHRT, MYH7 (K1459N)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GLikely benign FDA Recognized database
Select item 235032	NM_000257.4(MYH7):c.4363G>A (p.Glu1455Lys)	MHRT, MYH7 (E1455K)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 181255	NM_000257.4(MYH7):c.4353+5G>A	MHRT, MYH7	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GUncertain significance
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 650679	NM_000257.4(MYH7):c.4347C>G (p.Phe1449Leu)	MHRT, MYH7 (F1449L)	Single nucleotide variant (missense variant)	MYH7-related disorder +3 more	GUncertain significance
Select item 432912	NM_000257.4(MYH7):c.4343A>T (p.Asn1448Ile)	MHRT, MYH7 (N1448I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1395735	NM_000257.4(MYH7):c.4327G>C (p.Asp1443His)	MHRT, MYH7 (D1443H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1694093	NM_000257.4(MYH7):c.4322_4324dup (p.Ala1441_Leu1442insPro)	MHRT, MYH7	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 181254	NM_000257.4(MYH7):c.4300C>T (p.Arg1434Cys)	MHRT, MYH7 (R1434C)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 164289	NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser)	MHRT, MYH7 (L1428S)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database

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Items: 48