"GeneDx"[submitter] AND "LOC126861897"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 116

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 43059	NM_000257.4(MYH7):c.5302G>A (p.Glu1768Lys)	LOC126861897, MYH7 (E1768K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 1201345	NM_000257.4(MYH7):c.5284-45G>A	LOC126861897, MYH7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213643	NM_000257.4(MYH7):c.5283+46G>A	LOC126861897, MYH7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194109	NM_000257.4(MYH7):c.5283+25G>A	LOC126861897, MYH7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 138384	NM_000257.4(MYH7):c.5283+19C>T	LOC126861897, MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +8 more	GBenign/Likely benign
Select item 1276404	NM_000257.4(MYH7):c.5283+11del	LOC126861897, MYH7	Deletion (intron variant)	not provided +1 more	GBenign
Select item 2579439	NM_000257.4(MYH7):c.5283+4A>C	LOC126861897, MYH7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1473598	NM_000257.4(MYH7):c.5281G>A (p.Asp1761Asn)	LOC126861897, MYH7 (D1761N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 507625	NM_000257.4(MYH7):c.5280G>A (p.Thr1760=)	LOC126861897, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 665998	NM_000257.4(MYH7):c.5279C>A (p.Thr1760Lys)	LOC126861897, MYH7 (T1760K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 180024	NM_000257.4(MYH7):c.5279C>T (p.Thr1760Met)	LOC126861897, MYH7 (T1760M)	Single nucleotide variant (missense variant)	MYH7-related skeletal myopathy +9 more	GConflicting classifications of pathogenicity
Select item 856253	NM_000257.4(MYH7):c.5258AGAAGGCCA[1] (p.Lys1756_Ala1758del)	LOC126861897, MYH7	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 181276	NM_000257.4(MYH7):c.5263G>T (p.Ala1755Ser)	LOC126861897, MYH7 (A1755S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 181395	NM_000257.4(MYH7):c.5254G>A (p.Glu1752Lys)	LOC126861897, MYH7 (E1752K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 378879	NM_000257.4(MYH7):c.5253T>C (p.Ala1751=)	LOC126861897, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GLikely benign
Select item 180440	NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr)	LOC126861897, MYH7 (C1748Y)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1S +8 more	GConflicting classifications of pathogenicity
Select item 181274	NM_000257.4(MYH7):c.5229G>T (p.Glu1743Asp)	LOC126861897, MYH7 (E1743D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +9 more	GUncertain significance
Select item 2579453	NM_000257.4(MYH7):c.5215A>C (p.Thr1739Pro)	LOC126861897, MYH7 (T1739P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 181272	NM_000257.4(MYH7):c.5203T>A (p.Ser1735Thr)	LOC126861897, MHRT +1 more (S1735T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +9 more	GUncertain significance
Select item 379091	NM_000257.4(MYH7):c.5158-15C>T	LOC126861897, MHRT +1 more	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1318517	NM_000257.4(MYH7):c.5158-35C>T	LOC126861897, MHRT +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287247	NM_000257.4(MYH7):c.5158-57A>T	LOC126861897, MHRT +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288471	NM_000257.4(MYH7):c.5157+45del	LOC126861897, MHRT +1 more	Deletion (intron variant)	not provided	GBenign
Select item 1250608	NM_000257.4(MYH7):c.5157+45G>A	LOC126861897, MHRT +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263611	NM_000257.4(MYH7):c.5157+35A>G	LOC126861897, MHRT +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 188641	NM_000257.4(MYH7):c.5139G>A (p.Val1713=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +3 more	GBenign/Likely benign
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 14118	NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp)	LOC126861897, MHRT +1 more (R1712W)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 1321135	NM_000257.4(MYH7):c.5131G>A (p.Glu1711Lys)	LOC126861897, MHRT +1 more (E1711K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3368871	NM_000257.4(MYH7):c.5123A>T (p.Glu1708Val)	LOC126861897, MHRT +1 more (E1708V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 181271	NM_000257.4(MYH7):c.5120T>C (p.Ile1707Thr)	LOC126861897, MHRT +1 more (I1707T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 179401	NM_000257.4(MYH7):c.5110C>T (p.Gln1704Ter)	LOC126861897, MHRT +1 more (Q1704*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 920972	NM_000257.4(MYH7):c.5106G>T (p.Ala1702=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +1 more	GBenign/Likely benign
Select item 43056	NM_000257.4(MYH7):c.5106G>A (p.Ala1702=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GBenign FDA Recognized database
Select item 1062086	NM_000257.4(MYH7):c.5089C>T (p.Arg1697Trp)	LOC126861897, MHRT +1 more (R1697W)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +2 more	GUncertain significance
Select item 3367737	NM_000257.4(MYH7):c.5087A>C (p.Glu1696Ala)	LOC126861897, MHRT +1 more (E1696A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 670121	NM_000257.4(MYH7):c.5079G>A (p.Glu1693=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GLikely benign
Select item 222731	NM_000257.4(MYH7):c.5071G>A (p.Val1691Met)	MHRT, LOC126861897 +1 more (V1691M)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +4 more	GUncertain significance
Select item 510775	NM_000257.4(MYH7):c.5070C>G (p.Ala1690=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 670120	NM_000257.4(MYH7):c.5067T>G (p.Arg1689=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GLikely benign
Select item 519115	NM_000257.4(MYH7):c.5066G>A (p.Arg1689His)	LOC126861897, MHRT +1 more (R1689H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +9 more	GUncertain significance
Select item 181394	NM_000257.4(MYH7):c.5065C>T (p.Arg1689Cys)	LOC126861897, MHRT +1 more (R1689C)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +10 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 181393	NM_000257.4(MYH7):c.5030G>A (p.Arg1677His)	LOC126861897, MHRT +1 more (R1677H)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary dilated cardiomyopathy +10 more	GUncertain significance
Select item 181270	NM_000257.4(MYH7):c.5029C>T (p.Arg1677Cys)	LOC126861897, MHRT +1 more (R1677C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 454384	NM_000257.4(MYH7):c.5027G>A (p.Arg1676Gln)	LOC126861897, MHRT +1 more (R1676Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1327794	NM_000257.4(MYH7):c.5020G>T (p.Val1674Leu)	LOC126861897, MHRT +1 more (V1674L)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +2 more	GUncertain significance
Select item 451858	NM_000257.4(MYH7):c.5017A>G (p.Ile1673Val)	LOC126861897, MHRT +1 more (I1673V)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 626541	NM_000257.4(MYH7):c.5013C>T (p.Ile1671=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 583204	NM_000257.4(MYH7):c.5011A>G (p.Ile1671Val)	LOC126861897, MHRT +1 more (I1671V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 449119	NM_000257.4(MYH7):c.5005G>T (p.Glu1669Ter)	LOC126861897, MHRT +1 more (E1669*)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1315763	NM_000257.4(MYH7):c.5002A>G (p.Lys1668Glu)	LOC126861897, MHRT +1 more (K1668E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 1171161	NM_000257.4(MYH7):c.4981G>A (p.Val1661Ile)	LOC126861897, MHRT +1 more (V1661I)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +2 more	GUncertain significance
Select item 188638	NM_000257.4(MYH7):c.4980A>C (p.Ala1660=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 449317	NM_000257.4(MYH7):c.4979C>A (p.Ala1660Glu)	LOC126861897, MHRT +1 more (A1660E)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +8 more	GUncertain significance
Select item 43048	NM_000257.4(MYH7):c.4974C>T (p.Asp1658=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GBenign FDA Recognized database
Select item 43047	NM_000257.4(MYH7):c.4954G>T (p.Asp1652Tyr)	LOC126861897, MHRT +1 more (D1652Y)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +10 more	GUncertain significance
Select item 518202	NM_000257.4(MYH7):c.4954-14C>T	LOC126861897, MHRT +1 more	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 675328	NM_000257.4(MYH7):c.4954-41G>A	LOC126861897, MHRT +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 255631	NM_000257.4(MYH7):c.4953+17G>A	LOC126861897, MHRT +1 more	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 43046	NM_000257.4(MYH7):c.4953+13A>T	LOC126861897, MHRT +1 more	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +7 more	GLikely benign
Select item 516920	NM_000257.4(MYH7):c.4941G>A (p.Gln1647=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +3 more	GLikely benign
Select item 639133	NM_000257.4(MYH7):c.4935C>A (p.Ser1645Arg)	LOC126861897, MHRT +1 more (S1645R)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 432229	NM_000257.4(MYH7):c.4916C>T (p.Ala1639Val)	MHRT, MYH7 +1 more (A1639V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +8 more	GUncertain significance
Select item 43045	NM_000257.4(MYH7):c.4911C>T (p.Ala1637=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
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 312893	NM_000257.4(MYH7):c.4908C>T (p.Ala1636=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Left ventricular noncompaction cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 181269	NM_000257.4(MYH7):c.4904T>C (p.Met1635Thr)	LOC126861897, MHRT +1 more (M1635T)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +9 more	GUncertain significance
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)	not provided +10 more	GUncertain significance
Select item 1318878	NM_000257.4(MYH7):c.4900C>A (p.Arg1634Ser)	LOC126861897, MHRT +1 more (R1634S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 43043	NM_000257.4(MYH7):c.4900C>T (p.Arg1634Cys)	LOC126861897, MHRT +1 more (R1634C)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 924864	NM_000257.4(MYH7):c.4894G>A (p.Ala1632Thr)	LOC126861897, MHRT +1 more (A1632T)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +10 more	GUncertain significance
Select item 379007	NM_000257.4(MYH7):c.4893C>T (p.His1631=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +3 more	GLikely benign
Select item 429292	NM_000257.4(MYH7):c.4872G>T (p.Glu1624Asp)	LOC126861897, MHRT +1 more (E1624D)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 509419	NM_000257.4(MYH7):c.4869T>C (p.Asn1623=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GLikely benign
Select item 43042	NM_000257.4(MYH7):c.4864C>T (p.Leu1622Phe)	LOC126861897, MHRT +1 more (L1622F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GUncertain significance
Select item 181268	NM_000257.4(MYH7):c.4855G>A (p.Glu1619Lys)	LOC126861897, MHRT +1 more (E1619K)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 1284631	NM_000257.4(MYH7):c.4853T>C (p.Met1618Thr)	LOC126861897, MHRT +1 more (M1618T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 190401	NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del)	LOC126861897, MHRT +1 more (K1617del)	Microsatellite (inframe_deletion +1 more)	MYH7-related skeletal myopathy +3 more	GPathogenic/Likely pathogenic
Select item 43041	NM_000257.4(MYH7):c.4838G>A (p.Arg1613Lys)	LOC126861897, MHRT +1 more (R1613K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GUncertain significance
Select item 228913	NM_000257.4(MYH7):c.4832C>T (p.Ala1611Val)	LOC126861897, MHRT +1 more (A1611V)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 181392	NM_000257.4(MYH7):c.4831G>T (p.Ala1611Ser)	LOC126861897, MHRT +1 more (A1611S)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +9 more	GUncertain significance
Select item 453145	NM_000257.4(MYH7):c.4826_4828delinsGCCGCAACC (p.Asn1609_Glu1610delinsSerArgAsnGln)	LOC126861897, MHRT +1 more	Indel (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 181267	NM_000257.4(MYH7):c.4828G>C (p.Glu1610Gln)	LOC126861897, MHRT +1 more (E1610Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 138383	NM_000257.4(MYH7):c.4827C>T (p.Asn1609=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +3 more	GBenign/Likely benign
Select item 1012345	NM_000257.4(MYH7):c.4823G>A (p.Arg1608His)	LOC126861897, MHRT +1 more (R1608H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 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)	Cardiomyopathy +7 more	GUncertain significance
Select item 177945	NM_000257.4(MYH7):c.4816C>T (p.Arg1606Cys)	LOC126861897, MHRT +1 more (R1606C)	Single nucleotide variant (non-coding transcript variant +1 more)	MYH7-related skeletal myopathy +8 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 43037	NM_000257.4(MYH7):c.4806C>T (p.Asp1602=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy 1 +12 more	GBenign/Likely benign
Select item 383852	NM_000257.4(MYH7):c.4800C>T (p.Ser1600=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GLikely benign
Select item 1710680	NM_000257.4(MYH7):c.4799C>T (p.Ser1600Phe)	LOC126861897, MHRT +1 more (S1600F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 43035	NM_000257.4(MYH7):c.4788G>A (p.Ser1596=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GBenign FDA Recognized database
Select item 922222	NM_000257.4(MYH7):c.4787C>T (p.Ser1596Leu)	LOC126861897, MHRT +1 more (S1596L)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy 1 +4 more	GConflicting classifications of pathogenicity
Select item 190406	NM_000257.4(MYH7):c.4772T>C (p.Leu1591Pro)	LOC126861897, MHRT +1 more (L1591P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 3252628	NM_000257.4(MYH7):c.4763G>C (p.Arg1588Pro)	LOC126861897, MHRT +1 more (R1588P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 1321036	NM_000257.4(MYH7):c.4762C>A (p.Arg1588Ser)	LOC126861897, MHRT +1 more (R1588S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1316514	NM_000257.4(MYH7):c.4725G>T (p.Lys1575Asn)	LOC126861897, MHRT +1 more (K1575N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance

<< First< Prev

Page of 2