(1S)-( )-Ketopinic acid - ClinVar - NCBI

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The following term was not found in ClinVar: Ketopinic.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 326	NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)	NEXN (Y652C +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 66908	NM_170707.4(LMNA):c.568C>T (p.Arg190Trp)	LMNA (R190W +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +4 more	GPathogenic
Select item 163878	NM_170707.4(LMNA):c.1634G>A (p.Arg545His)	LMNA (R545H +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2 +23 more	GConflicting classifications of pathogenicity
Select item 179958	NM_206933.4(USH2A):c.3045C>G (p.His1015Gln)	USH2A, USH2A-AS1 (H1015Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GUncertain significance
Select item 191836	NM_001267550.2(TTN):c.98759G>A (p.Arg32920Gln)	TTN, TTN-AS1 (R30352Q +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +8 more	GUncertain significance
Select item 202855	NM_001267550.2(TTN):c.74305A>G (p.Asn24769Asp)	TTN-AS1, TTN (N23128D +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +4 more	GConflicting classifications of pathogenicity
Select item 47108	NM_001267550.2(TTN):c.55745C>T (p.Pro18582Leu)	TTN, TTN-AS1 (P18582L +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 265815	NM_001267550.2(TTN):c.54140C>T (p.Ala18047Val)	TTN, TTN-AS1 (A18047V +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 12445	NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu)	TNNC1 (D145E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 265805	NM_003280.3(TNNC1):c.184G>A (p.Asp62Asn)	TNNC1 (D62N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 15986	NM_000583.4(GC):c.1307C>A (p.Thr436Lys)	GC (T436K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 265819	NM_004415.4(DSP):c.136G>A (p.Gly46Ser)	DSP, DSP-AS1 (G46S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 265810	NM_004415.4(DSP):c.3551G>A (p.Arg1184Gln)	DSP (R1184Q)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +7 more	GConflicting classifications of pathogenicity
Select item 199839	NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile)	DSP (L1206I)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more	GConflicting classifications of pathogenicity
Select item 45596	NM_014000.3(VCL):c.2444A>G (p.Lys815Arg)	VCL (K815R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 15 +4 more	GUncertain significance
Select item 268	NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu)	RBM20 (P638L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GPathogenic
Select item 625898	NM_001734.5(C1S):c.514G>A (p.Gly172Arg)	C1S (G172R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1694448	NM_001734.5(C1S):c.991C>T (p.Arg331Cys)	C1S (R164C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 976135	NM_001734.5(C1S):c.1139C>T (p.Ser380Phe)	C1S (S213F +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 992547	NM_001734.5(C1S):c.1198G>C (p.Glu400Gln)	C1S (E233Q +1 more)	Single nucleotide variant (missense variant)	Complement component C1s deficiency +3 more	GConflicting classifications of pathogenicity
Select item 2137294	NM_001734.5(C1S):c.1567C>T (p.Arg523Ter)	C1S (R523* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 17068	NM_001734.5(C1S):c.1600C>T (p.Arg534Trp)	C1S (R534W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 43475	NM_000432.4(MYL2):c.401A>C (p.Glu134Ala)	MYL2 (E134A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +5 more	GConflicting classifications of pathogenicity
Select item 882442	NM_000257.4(MYH7):c.*81G>A	MYH7	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 1 +3 more	GUncertain significance
Select item 884147	NM_000257.4(MYH7):c.5793C>T (p.Gly1931=)	MYH7	Single nucleotide variant (synonymous variant)	Myosin storage myopathy +4 more	GConflicting classifications of pathogenicity
Select item 43091	NM_000257.4(MYH7):c.5787G>A (p.Thr1929=)	MYH7	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 407171	NM_000257.4(MYH7):c.5774G>A (p.Arg1925His)	MYH7 (R1925H)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GUncertain significance
Select item 43088	NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys)	MYH7 (E1914K)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 571738	NM_000257.4(MYH7):c.5737G>A (p.Ala1913Thr)	MYH7 (A1913T)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 181290	NM_000257.4(MYH7):c.5726G>A (p.Arg1909Gln)	MYH7 (R1909Q)	Single nucleotide variant (missense variant)	MYH7-related skeletal myopathy +7 more	GConflicting classifications of pathogenicity
Select item 838063	NM_000257.4(MYH7):c.5725C>T (p.Arg1909Trp)	MYH7 (R1909W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +6 more	GUncertain significance
Select item 43082	NM_000257.4(MYH7):c.5704G>C (p.Glu1902Gln)	MYH7 (E1902Q)	Single nucleotide variant (missense variant)	Cardiomyopathy	GLikely benign FDA Recognized database
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 925746	NM_000257.4(MYH7):c.5671A>G (p.Thr1891Ala)	MYH7 (T1891A)	Single nucleotide variant (missense variant)	Cardiomyopathy +9 more	GUncertain significance
Select item 181165	NM_000257.4(MYH7):c.5661G>A (p.Glu1887=)	MYH7	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1 +9 more	GBenign/Likely benign
Select item 378215	NM_000257.4(MYH7):c.5655G>A (p.Ala1885=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 14121	NM_000257.4(MYH7):c.5647G>A (p.Glu1883Lys)	MYH7 (E1883K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 386841	NM_000257.4(MYH7):c.5638C>T (p.Arg1880Cys)	MYH7 (R1880C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +8 more	GUncertain significance
Select item 181288	NM_000257.4(MYH7):c.5606A>G (p.Asp1869Gly)	MYH7 (D1869G)	Single nucleotide variant (missense variant)	Myosin storage myopathy +10 more	GUncertain significance
Select item 43076	NM_000257.4(MYH7):c.5588G>A (p.Arg1863Gln)	MYH7 (R1863Q)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance FDA Recognized database
Select item 918220	NM_000257.4(MYH7):c.5587C>T (p.Arg1863Trp)	MYH7 (R1863W)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 518701	NM_000257.4(MYH7):c.5559+5G>A	MYH7	Single nucleotide variant (intron variant)	Myopathy, myosin storage, autosomal recessive +9 more	GConflicting classifications of pathogenicity
Select item 1104244	NM_000257.4(MYH7):c.5533C>A (p.Arg1845=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GLikely benign
Select item 181285	NM_000257.4(MYH7):c.5530G>A (p.Glu1844Lys)	MYH7 (E1844K)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance FDA Recognized database
Select item 164268	NM_000257.4(MYH7):c.5507C>T (p.Ser1836Leu)	MYH7 (S1836L)	Single nucleotide variant (missense variant)	MYH7-related skeletal myopathy +8 more	GConflicting classifications of pathogenicity
Select item 161322	NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys)	MYH7 (R1832C)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +10 more	GUncertain significance
Select item 653905	NM_000257.4(MYH7):c.5470_5471delinsGG (p.Asn1824Gly)	MYH7 (N1824G)	Indel (missense variant)	Hypertrophic cardiomyopathy 1 +10 more	GUncertain significance
Select item 1284652	NM_000257.4(MYH7):c.5470A>G (p.Asn1824Asp)	MYH7 (N1824D)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GUncertain significance
Select item 419278	NM_000257.4(MYH7):c.5459G>A (p.Arg1820Gln)	MYH7 (R1820Q)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
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 181282	NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp)	MYH7 (R1820W)	Single nucleotide variant (missense variant)	Myosin storage myopathy	GUncertain significance FDA Recognized database
Select item 217826	NM_000257.4(MYH7):c.5452C>T (p.Arg1818Trp)	MYH7 (R1818W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +9 more	GUncertain significance
Select item 217468	NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser)	MYH7 (G1808S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 626809	NM_000257.4(MYH7):c.5386C>T (p.Arg1796Trp)	MYH7 (R1796W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +9 more	GUncertain significance
Select item 43064	NM_000257.4(MYH7):c.5342G>A (p.Arg1781His)	MYH7 (R1781H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 177697	NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr)	MYH7 (A1777T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance FDA Recognized database
Select item 177629	NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly)	MYH7 (S1776G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 161323	NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met)	LOC126861897, MYH7 (L1769M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 177846	NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr)	LOC126861897, MYH7 (A1763T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +11 more	GUncertain significance
Select item 180024	NM_000257.4(MYH7):c.5279C>T (p.Thr1760Met)	LOC126861897, MYH7 (T1760M)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 180440	NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr)	LOC126861897, MYH7 (C1748Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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 1 +9 more	GUncertain significance
Select item 312891	NM_000257.4(MYH7):c.5208G>C (p.Gln1736His)	LOC126861897, MHRT +1 more (Q1736H)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy 1 +5 more	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)	Hypertrophic cardiomyopathy 1 +9 more	GUncertain significance
Select item 43058	NM_000257.4(MYH7):c.5192A>T (p.Asp1731Val)	LOC126861897, MHRT +1 more (D1731V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +8 more	GUncertain significance
Select item 454387	NM_000257.4(MYH7):c.5157G>A (p.Gln1719=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +6 more	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 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 164276	NM_000257.4(MYH7):c.5096G>A (p.Arg1699Gln)	LOC126861897, MHRT +1 more (R1699Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
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)	Hypertrophic cardiomyopathy 1 +3 more	GUncertain significance
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 1 +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)	not provided +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)	Hypertrophic cardiomyopathy 1 +10 more	GUncertain significance
Select item 312892	NM_000257.4(MYH7):c.5026C>T (p.Arg1676Trp)	LOC126861897, MHRT +1 more (R1676W)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +9 more	GUncertain significance
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)	Myopathy, myosin storage, autosomal recessive +8 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)	Hypertrophic cardiomyopathy 1 +9 more	GUncertain significance
Select item 880973	NM_000257.4(MYH7):c.4953+6C>A	LOC126861897, MHRT +1 more	Single nucleotide variant (intron variant)	MYH7-related skeletal myopathy +3 more	GUncertain significance
Select item 432229	NM_000257.4(MYH7):c.4916C>T (p.Ala1639Val)	LOC126861897, MHRT +1 more (A1639V)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +8 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 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 1 +9 more	GUncertain significance
Select item 222730	NM_000257.4(MYH7):c.4901G>A (p.Arg1634His)	LOC126861897, MHRT +1 more (R1634H)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +10 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)	Cardiomyopathy +10 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 312894	NM_000257.4(MYH7):c.4828G>A (p.Glu1610Lys)	LOC126861897, MHRT +1 more (E1610K)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy 1 +6 more	GUncertain significance
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 177945	NM_000257.4(MYH7):c.4816C>T (p.Arg1606Cys)	LOC126861897, MHRT +1 more (R1606C)	Single nucleotide variant (non-coding transcript variant +1 more)	Myosin storage 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)	Hypertrophic cardiomyopathy 1 +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)	MYH7-related skeletal myopathy +12 more	GBenign/Likely benign
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 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 660218	NM_000257.4(MYH7):c.4756G>A (p.Ala1586Thr)	LOC126861897, MHRT +1 more (A1586T)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +9 more	GUncertain significance
Select item 181262	NM_000257.4(MYH7):c.4679G>A (p.Arg1560Gln)	MHRT, LOC126861897 +1 more (R1560Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 181251	NM_000257.4(MYH7):c.4644+5G>C	MHRT, MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1 +9 more	GUncertain significance
Select item 838150	NM_000257.4(MYH7):c.4643A>T (p.Glu1548Val)	MHRT, MYH7 (E1548V)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GUncertain significance
Select item 926826	NM_000257.4(MYH7):c.4641C>T (p.Ala1547=)	MHRT, MYH7	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +9 more	GBenign/Likely benign
Select item 43029	NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter)	MHRT, MYH7 (R1530*)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance FDA Recognized database
Select item 524970	NM_000257.4(MYH7):c.4567A>G (p.Ile1523Val)	MHRT, MYH7 (I1523V)	Single nucleotide variant (non-coding transcript variant +1 more)	Myopathy, myosin storage, autosomal recessive +7 more	GUncertain significance
Select item 842499	NM_000257.4(MYH7):c.4532A>T (p.Asp1511Val)	MHRT, MYH7 (D1511V)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 43024	NM_000257.4(MYH7):c.4525A>C (p.Ile1509Leu)	MHRT, MYH7 (I1509L)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +6 more	GConflicting classifications of pathogenicity

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