2-Hydroxy-6-aminohexanoic acid - ClinVar

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Items: 83

The following term was not found in ClinVar: aminohexanoic.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2623458	NM_000191.3(HMGCL):c.539T>A (p.Ile180Asn)	HMGCL (I180N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3106270	NM_000191.3(HMGCL):c.524C>T (p.Pro175Leu)	HMGCL (P175L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 11957	NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)	HMGCL (R41Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1933652	NM_000191.3(HMGCL):c.16A>G (p.Lys6Glu)	HMGCL (K6E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1399962	NM_005518.4(HMGCS2):c.1127C>T (p.Thr376Ile)	HMGCS2 (T376I +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency +1 more	GUncertain significance
Select item 2138012	NM_005518.4(HMGCS2):c.1112C>G (p.Ser371Cys)	HMGCS2 (S371C +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency +1 more	GUncertain significance
Select item 3284496	NM_005518.4(HMGCS2):c.1018G>A (p.Gly340Arg)	HMGCS2 (G298R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1327464	NM_005518.4(HMGCS2):c.821G>A (p.Arg274His)	HMGCS2 (R232H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2628076	NM_005518.4(HMGCS2):c.164G>A (p.Gly55Asp)	HMGCS2 (G55D)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely pathogenic
Select item 156371	NM_022340.4(RBSN):c.1273G>A (p.Gly425Arg)	RBSN (G425R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2368315	NM_001098272.3(HMGCS1):c.1175C>G (p.Ala392Gly)	HMGCS1 (A350G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284489	NM_001098272.3(HMGCS1):c.781A>G (p.Met261Val)	HMGCS1 (M219V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475710	NM_000859.3(HMGCR):c.511G>A (p.Asp171Asn)	HMGCR (D171N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1803007	NM_000859.3(HMGCR):c.2465G>A (p.Gly822Asp)	HMGCR (G769D +1 more)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy	GPathogenic
Select item 1701970	NM_000287.4(PEX6):c.2482C>T (p.Gln828Ter)	PEX6 (Q740* +1 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1701971	NM_000287.4(PEX6):c.929C>T (p.Ser310Leu)	PEX6 (S222L +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 145584	GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1	BAG2, BEND6 +171 more	Copy number loss	See cases	GPathogenic
Select item 1809510	GRCh38/hg38 6p12.1-11.2(chr6:55755662-55874865)x2	LINC01564, LINC03001 +88 more	Copy number loss	Orofacial cleft	GUncertain significance
Select item 2411943	NM_001042406.2(HMGCLL1):c.1010C>T (p.Ser337Phe)	HMGCLL1 (S238F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106271	NM_001042406.2(HMGCLL1):c.943A>T (p.Met315Leu)	HMGCLL1 (M212L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335707	NM_001042406.2(HMGCLL1):c.883G>A (p.Asp295Asn)	HMGCLL1 (D325N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356435	NM_001042406.2(HMGCLL1):c.880G>A (p.Glu294Lys)	HMGCLL1 (E191K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389868	NM_001042406.2(HMGCLL1):c.853A>G (p.Lys285Glu)	HMGCLL1 (K186E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246204	NM_001042406.2(HMGCLL1):c.811G>A (p.Val271Met)	HMGCLL1 (V301M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541365	NM_001042406.2(HMGCLL1):c.785C>T (p.Thr262Met)	HMGCLL1 (T163M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541354	NM_001042406.2(HMGCLL1):c.784A>T (p.Thr262Ser)	HMGCLL1 (T159S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327782	NM_001042406.2(HMGCLL1):c.722C>A (p.Pro241Gln)	HMGCLL1 (P138Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106276	NM_001042406.2(HMGCLL1):c.676C>G (p.Pro226Ala)	HMGCLL1 (P123A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230265	NM_001042406.2(HMGCLL1):c.661A>G (p.Ile221Val)	HMGCLL1 (I221V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106275	NM_001042406.2(HMGCLL1):c.652G>A (p.Gly218Arg)	HMGCLL1 (G115R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401414	NM_001042406.2(HMGCLL1):c.618A>T (p.Arg206Ser)	HMGCLL1 (R107S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485561	NM_001042406.2(HMGCLL1):c.518G>A (p.Arg173Lys)	HMGCLL1 (R173K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2531842	NM_001042406.2(HMGCLL1):c.514G>A (p.Ala172Thr)	HMGCLL1 (A202T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2558998	NM_001042406.2(HMGCLL1):c.456G>T (p.Lys152Asn)	HMGCLL1 (K120N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2526621	NM_001042406.2(HMGCLL1):c.440A>C (p.Glu147Ala)	HMGCLL1 (E147A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2360692	NM_001042406.2(HMGCLL1):c.400G>C (p.Ala134Pro)	HMGCLL1 (A35P +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2462709	NM_001042406.2(HMGCLL1):c.349C>T (p.Arg117Cys)	HMGCLL1 (R147C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106274	NM_001042406.2(HMGCLL1):c.284G>C (p.Arg95Thr)	HMGCLL1 (R125T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2514483	NM_001042406.2(HMGCLL1):c.284G>T (p.Arg95Ile)	HMGCLL1 (R125I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3106273	NM_001042406.2(HMGCLL1):c.278C>T (p.Ser93Phe)	HMGCLL1 (S123F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2297325	NM_001042406.2(HMGCLL1):c.265A>T (p.Thr89Ser)	HMGCLL1 (T119S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2516185	NM_001042406.2(HMGCLL1):c.259G>C (p.Glu87Gln)	HMGCLL1 (E117Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2509792	NM_001042406.2(HMGCLL1):c.166A>T (p.Arg56Trp)	HMGCLL1 (R56W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3106272	NM_001042406.2(HMGCLL1):c.163C>G (p.Pro55Ala)	HMGCLL1 (P85A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2685203	GRCh37/hg19 6p12.3-12.1(chr6:50181657-55538355)x1	CILK1, EFHC1 +30 more	Copy number loss	not provided	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 8409	CYP2C9*2	CYP2C9 (R144C)	Single nucleotide variant (missense variant)	Flurbiprofen response +4 more	GLikely benign; drug response; other
Select item 204276	NM_138413.4(HOGA1):c.763C>T (p.Arg255Ter)	HOGA1 (R255* +1 more)	Single nucleotide variant (nonsense)	Primary hyperoxaluria type 3 +1 more	GPathogenic/Likely pathogenic
Select item 34	NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly)	HOGA1 (C257G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2516186	NM_138413.4(HOGA1):c.772T>C (p.Cys258Arg)	HOGA1 (C258R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 879603	NM_138413.4(HOGA1):c.776C>T (p.Thr259Met)	HOGA1 (T259M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1072433	NM_138413.4(HOGA1):c.811C>T (p.Arg271Cys)	HOGA1 (R108C +1 more)	Single nucleotide variant (missense variant)	Primary hyperoxaluria type 3 +1 more	GConflicting classifications of pathogenicity
Select item 1073203	NM_138413.4(HOGA1):c.812G>A (p.Arg271His)	HOGA1 (R108H +1 more)	Single nucleotide variant (missense variant)	Primary hyperoxaluria type 3 +1 more	GPathogenic/Likely pathogenic
Select item 204286	NM_138413.4(HOGA1):c.834G>A (p.Ala278=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2320905	NM_025193.4(HSD3B7):c.593G>A (p.Gly198Asp)	HSD3B7 (G198D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 501857	NM_025193.4(HSD3B7):c.608G>A (p.Arg203Lys)	HSD3B7 (R203K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2030273	NM_025193.4(HSD3B7):c.611del (p.Asp204fs)	HSD3B7 (D204fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 198266	NM_025193.4(HSD3B7):c.637G>A (p.Gly213Arg)	HSD3B7 (G213R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 391611	NM_025193.4(HSD3B7):c.652C>T (p.Arg218Trp)	HSD3B7 (R218W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2400062	NM_025193.4(HSD3B7):c.653G>A (p.Arg218Gln)	HSD3B7 (R218Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2405171	NM_025193.4(HSD3B7):c.656C>T (p.Ala219Val)	HSD3B7 (A219V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2371809	NM_025193.4(HSD3B7):c.662C>T (p.Pro221Leu)	HSD3B7 (P221L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 502643	NM_025193.4(HSD3B7):c.671T>C (p.Val224Ala)	HSD3B7 (V224A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1339161	NM_025193.4(HSD3B7):c.689A>G (p.Tyr230Cys)	HSD3B7 (Y230C)	Single nucleotide variant (missense variant +1 more)	Congenital bile acid synthesis defect 1	GUncertain significance
Select item 2471173	NM_025193.4(HSD3B7):c.715G>A (p.Val239Met)	HSD3B7 (V239M)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1385027	NM_025193.4(HSD3B7):c.721_722insAG (p.Ala241fs)	HSD3B7 (A241fs +1 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 3107184	NM_025193.4(HSD3B7):c.742C>T (p.Arg248Trp)	HSD3B7 (R248W)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 596598	NM_025193.4(HSD3B7):c.859C>T (p.Arg287Cys)	HSD3B7 (R287C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 286890	NM_025193.4(HSD3B7):c.890del (p.Phe297fs)	HSD3B7 (F297fs)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2404245	NM_025193.4(HSD3B7):c.928C>T (p.Arg310Trp)	HSD3B7 (R310W)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3107185	NM_025193.4(HSD3B7):c.944A>G (p.Tyr315Cys)	HSD3B7 (Y315C)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2881	NM_025193.4(HSD3B7):c.1039_1040del (p.Leu347fs)	HSD3B7 (L347fs)	Deletion (3 prime UTR variant +1 more)	Congenital bile acid synthesis defect 1	GPathogenic
Select item 3107178	NM_025193.4(HSD3B7):c.1055A>G (p.Asp352Gly)	HSD3B7 (D352G)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 499346	NM_025193.4(HSD3B7):c.1061G>A (p.Arg354Gln)	HSD3B7 (R354Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 3107179	NM_025193.4(HSD3B7):c.1069A>C (p.Thr357Pro)	HSD3B7 (T357P)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258622	NM_025193.4(HSD3B7):c.1080G>C (p.Trp360Cys)	HSD3B7 (W360C)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1327475	NM_004493.3(HSD17B10):c.660A>C (p.Gln220His)	HSD17B10 (Q211H +1 more)	Single nucleotide variant (missense variant)	HSD10 mitochondrial disease	GUncertain significance
Select item 11445	NM_004493.3(HSD17B10):c.574C>A (p.Arg192=)	HSD17B10	Single nucleotide variant (synonymous variant +1 more)	HSD10 mitochondrial disease	GPathogenic
Select item 11442	NM_004493.3(HSD17B10):c.388C>T (p.Arg130Cys)	HSD17B10 (R130C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 996911	NM_004493.3(HSD17B10):c.164G>A (p.Gly55Glu)	HSD17B10 (G55E)	Single nucleotide variant (missense variant)	HSD10 mitochondrial disease	GLikely pathogenic

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Items: 83