Mammillaria hamiltonhoytiae var. pilensis - ClinVar - NCBI

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The following terms were not found in ClinVar: Mammillaria, hamiltonhoytiae, pilensis.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 406240	NM_022114.4(PRDM16):c.481A>G (p.Asn161Asp)	PRDM16 (N161D)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 229169	NM_022114.4(PRDM16):c.867G>A (p.Met289Ile)	PRDM16 (M289I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 426420	NM_022114.4(PRDM16):c.1706C>T (p.Thr569Met)	PRDM16 (T569M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 229160	NM_022114.4(PRDM16):c.2060G>C (p.Gly687Ala)	PRDM16 (G687A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 241425	NM_022114.4(PRDM16):c.2449G>A (p.Gly817Ser)	PRDM16 (G817S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 229165	NM_022114.4(PRDM16):c.2786C>A (p.Pro929His)	PRDM16 (P929H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 228670	NM_031475.3(ESPN):c.337C>T (p.Arg113Cys)	ESPN (R113C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2413183	NM_000478.6(ALPL):c.1468A>C (p.Ile490Leu)	ALPL (I413L +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia	GUncertain significance
Select item 178351	NM_024009.3(GJB3):c.479G>A (p.Arg160His)	GJB3 (R160H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 228771	NM_004700.4(KCNQ4):c.1611C>G (p.Ile537Met)	KCNQ4 (I537M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 228775	NM_004700.4(KCNQ4):c.2006A>G (p.His669Arg)	KCNQ4 (H669R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 141614	NM_001048174.2(MUTYH):c.1333G>A (p.Ala445Thr)	MUTYH (A473T +8 more)	Single nucleotide variant (missense variant +1 more)	Gastric cancer +4 more	GUncertain significance
Select item 483890	NM_001048174.2(MUTYH):c.827G>A (p.Ser276Asn)	MUTYH (S304N +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 46551	NM_057176.3(BSND):c.851G>A (p.Gly284Asp)	BSND (G284D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2124621	NM_001134673.4(NFIA):c.739_740del (p.Ser247fs)	NFIA (S239fs +2 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 226096	NM_000016.6(ACADM):c.984del (p.Met328fs)	ACADM (M328fs +4 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 47914	NM_144573.4(NEXN):c.893C>G (p.Thr298Arg)	NEXN (T298R +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 47888	NM_144573.4(NEXN):c.1366G>A (p.Gly456Arg)	NEXN (G456R +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +2 more	GUncertain significance
Select item 229055	NM_144573.4(NEXN):c.1820_1822del (p.Gly607del)	NEXN (G607del +1 more)	Deletion (inframe_deletion)	Dilated cardiomyopathy 1CC +4 more	GUncertain significance
Select item 177778	NM_002524.5(NRAS):c.34G>A (p.Gly12Ser)	NRAS (G12S)	Single nucleotide variant (missense variant)	RASopathy +3 more	GPathogenic
Select item 179599	NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup)	CASQ2	Microsatellite (inframe_insertion)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GConflicting classifications of pathogenicity
Select item 44168	NM_001232.4(CASQ2):c.781T>C (p.Trp261Arg)	CASQ2 (W261R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 162814	NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu)	CASQ2 (F189L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +7 more	GConflicting classifications of pathogenicity
Select item 44164	NM_001232.4(CASQ2):c.421-14G>A	CASQ2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 30465	NM_005105.5(RBM8A):c.67+32G>C	RBM8A, LIX1L-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Global developmental delay +4 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 39457	NM_001111.5(ADAR):c.3337G>C (p.Asp1113His)	ADAR (D1113H +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6	GPathogenic/Likely pathogenic
Select item 39459	NM_001111.5(ADAR):c.3335A>T (p.Tyr1112Phe)	ADAR (Y1112F +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6	GPathogenic/Likely pathogenic
Select item 39458	NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)	ADAR (G1007R +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 39460	NM_001111.5(ADAR):c.2997G>T (p.Lys999Asn)	ADAR (K999N +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6	GPathogenic/Likely pathogenic
Select item 39455	NM_001111.5(ADAR):c.2675G>A (p.Arg892His)	ADAR, LOC126805874 (R892H +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 39461	NM_001111.5(ADAR):c.2615T>C (p.Ile872Thr)	ADAR, LOC126805874 (I872T +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6	GPathogenic/Likely pathogenic
Select item 39456	NM_001111.5(ADAR):c.2608G>A (p.Ala870Thr)	LOC126805874, ADAR (A870T +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6	GPathogenic/Likely pathogenic
Select item 126395	NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)	ADAR (P193A +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	ADAR-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 180106	NM_170707.2(LMNA):c.(?_1)_(356_?)del	LMNA, LOC129931597	Deletion	Primary dilated cardiomyopathy +1 more	GPathogenic
Select item 48069	NM_170707.4(LMNA):c.513+1G>C	LMNA, LOC126805877	Single nucleotide variant (splice donor variant +1 more)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely pathogenic
Select item 180115	NM_170707.4(LMNA):c.686T>C (p.Ile229Thr)	LMNA (I229T +2 more)	Single nucleotide variant (missense variant)	Familial partial lipodystrophy, Dunnigan type +4 more	GConflicting classifications of pathogenicity
Select item 48096	NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)	LMNA (R321* +2 more)	Single nucleotide variant (nonsense)	Emery-Dreifuss muscular dystrophy 3, autosomal recessive +15 more	GPathogenic
Select item 163871	NM_170707.4(LMNA):c.1158-3C>T	LMNA	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 66800	NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter)	LMNA (Q432* +2 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +3 more	GPathogenic/Likely pathogenic
Select item 48038	NM_170707.4(LMNA):c.1363C>T (p.Arg455Cys)	LMNA (R455C +2 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 3, autosomal recessive +14 more	GUncertain significance
Select item 66860	NM_170707.4(LMNA):c.1622G>A (p.Arg541His)	LMNA (R541H +2 more)	Single nucleotide variant (missense variant +1 more)	Hutchinson-Gilford syndrome +7 more	GPathogenic/Likely pathogenic
Select item 163878	NM_170707.4(LMNA):c.1634G>A (p.Arg545His)	LMNA (R545H +2 more)	Single nucleotide variant (missense variant +1 more)	Lipodystrophy +23 more	GConflicting classifications of pathogenicity
Select item 43677	NM_001276345.2(TNNT2):c.887G>A (p.Arg296His)	TNNT2 (R286H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 43639	NM_001276345.2(TNNT2):c.430C>G (p.Arg144Gly)	TNNT2 (R134G +3 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +3 more	GPathogenic/Likely pathogenic
Select item 179442	NM_001276345.2(TNNT2):c.228G>C (p.Lys76Asn)	TNNT2 (K66N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 166415	NM_206933.4(USH2A):c.15281C>T (p.Pro5094Leu)	USH2A (P5094L)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GUncertain significance
Select item 179212	NM_206933.4(USH2A):c.11687TCA[2] (p.Ile3898del)	USH2A (I3898del)	Microsatellite (inframe_deletion)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 550545	NM_206933.4(USH2A):c.9871G>A (p.Gly3291Ser)	USH2A (G3291S)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GConflicting classifications of pathogenicity
Select item 374591	NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg)	USH2A (G2295R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 48501	NM_206933.4(USH2A):c.3405G>C (p.Arg1135Ser)	USH2A, USH2A-AS1 (R1135S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 166526	NM_206933.4(USH2A):c.1582G>A (p.Asp528Asn)	USH2A (D528N)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GUncertain significance
Select item 179193	NM_206933.4(USH2A):c.1448C>T (p.Thr483Met)	USH2A (T483M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GConflicting classifications of pathogenicity
Select item 2355	NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)	USH2A (C319Y)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 229626	NM_206933.4(USH2A):c.706C>A (p.Pro236Thr)	USH2A (P236T)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 41935	NM_152490.5(B3GALNT2):c.875G>C (p.Arg292Pro)	B3GALNT2 (R292P)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GPathogenic/Likely pathogenic
Select item 41938	NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met)	B3GALNT2 (V268M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 41937	NM_152490.5(B3GALNT2):c.755T>G (p.Val252Gly)	B3GALNT2 (V252G +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GPathogenic/Likely pathogenic
Select item 41934	NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu)	B3GALNT2 (G247E +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GConflicting classifications of pathogenicity
Select item 18313	NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg)	ACTN2 (Q9R)	Single nucleotide variant (missense variant +1 more)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 43951	NM_001103.4(ACTN2):c.893G>A (p.Arg298His)	ACTN2 (R298H +1 more)	Single nucleotide variant (missense variant)	Myopathy, congenital, with structured cores and z-line abnormalities +7 more	GConflicting classifications of pathogenicity
Select item 35650	NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met)	ACTN2 (T716M +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 228435	NM_001103.4(ACTN2):c.2602G>A (p.Ala868Thr)	ACTN2 (A868T +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 178114	NM_001035.3(RYR2):c.1166G>A (p.Arg389His)	RYR2 (R389H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +6 more	GUncertain significance
Select item 229218	NM_001035.3(RYR2):c.2881G>T (p.Val961Leu)	RYR2 (V961L)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 179818	NM_001035.3(RYR2):c.3656A>C (p.Lys1219Thr)	RYR2 (K1219T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 201179	NM_001035.3(RYR2):c.9655G>A (p.Val3219Met)	RYR2 (V3219M)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 190999	NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu)	RYR2 (S3349L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 43726	NM_001035.3(RYR2):c.13541A>G (p.Asn4514Ser)	RYR2 (N4514S)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 4371	NM_001243133.2(NLRP3):c.592G>A (p.Val198Met)	NLRP3 (V198M +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1 +10 more	GConflicting classifications of pathogenicity
Select item 97989	NM_001243133.2(NLRP3):c.937A>G (p.Ile313Val)	NLRP3 (I315V +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1 +7 more	GConflicting classifications of pathogenicity
Select item 434252	NM_000384.3(APOB):c.10238del (p.Thr3413fs)	APOB (T3413fs)	Deletion (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 48187	NM_194248.3(OTOF):c.2153G>A (p.Trp718Ter)	OTOF (W718*)	Single nucleotide variant (nonsense)	Bilateral sensorineural hearing impairment +3 more	GPathogenic
Select item 48170	NM_194248.3(OTOF):c.1469C>G (p.Pro490Arg)	OTOF (P490R)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +2 more	GConflicting classifications of pathogenicity
Select item 177907	NM_194248.3(OTOF):c.632G>A (p.Arg211Gln)	OTOF (R211Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 229082	NM_194248.3(OTOF):c.80G>A (p.Gly27Glu)	OTOF (G27E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 7739	NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)	CYP1B1 (R368H)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 45369	NM_005633.4(SOS1):c.3734G>T (p.Gly1245Val)	SOS1 (G1245V +2 more)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 505408	NM_005633.4(SOS1):c.2671G>A (p.Glu891Lys)	SOS1 (E891K +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 40699	NM_005633.4(SOS1):c.2183A>T (p.Lys728Ile)	SOS1 (K728I +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome +3 more	GPathogenic/Likely pathogenic
Select item 45351	NM_005633.4(SOS1):c.244A>G (p.Ile82Val)	SOS1 (I82V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 188106	NM_002354.3(EPCAM):c.50C>T (p.Thr17Met)	EPCAM (T17M)	Single nucleotide variant (missense variant)	Lynch syndrome 8 +2 more	GUncertain significance
Select item 90773	NM_000251.3(MSH2):c.1760-1G>A	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 228448	NM_001692.4(ATP6V1B1):c.305G>A (p.Arg102Lys)	ATP6V1B1 (R102K)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 228450	NM_001692.4(ATP6V1B1):c.651T>G (p.His217Gln)	ATP6V1B1 (H217Q)	Single nucleotide variant (missense variant)	Renal tubular acidosis with progressive nerve deafness +3 more	GUncertain significance
Select item 30447	NM_019885.4(CYP26B1):c.1088G>T (p.Arg363Leu)	CYP26B1 (R363L +1 more)	Single nucleotide variant (missense variant)	Lethal occipital encephalocele-skeletal dysplasia syndrome	GPathogenic
Select item 30448	NM_019885.4(CYP26B1):c.436T>C (p.Ser146Pro)	CYP26B1 (S146P +1 more)	Single nucleotide variant (missense variant)	Lethal occipital encephalocele-skeletal dysplasia syndrome	GPathogenic
Select item 206740	NM_001165963.4(SCN1A):c.505T>C (p.Ser169Pro)	SCN1A (S169P)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 163061	NM_001042702.5(PJVK):c.212-12C>A	PJVK	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 46573	NM_001267550.2(TTN):c.107753G>A (p.Cys35918Tyr)	TTN, TTN-AS1 (C35918Y +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GConflicting classifications of pathogenicity
Select item 178152	NM_001267550.2(TTN):c.106876T>G (p.Leu35626Val)	TTN, TTN-AS1 (L33058V +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GConflicting classifications of pathogenicity
Select item 47709	NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val)	TTN, TTN-AS1 (E35527V +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +7 more	GConflicting classifications of pathogenicity
Select item 47697	NM_001267550.2(TTN):c.105625A>C (p.Lys35209Gln)	LOC129935183, TTN +1 more (K35209Q +5 more)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 178854	NM_001267550.2(TTN):c.105562A>C (p.Ile35188Leu)	LOC129935184, TTN +1 more (I32620L +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 47635	NM_001267550.2(TTN):c.101250C>G (p.Ile33750Met)	TTN, TTN-AS1 (I33750M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 165659	NM_001267550.2(TTN):c.101159A>G (p.Lys33720Arg)	TTN, TTN-AS1 (K31152R +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 220854	NC_000002.12:g.178542551_178542552delinsCT	TTN-AS1, TTN (P29834R +5 more)	Indel	not specified +2 more	GUncertain significance
Select item 47569	NM_001267550.2(TTN):c.96286G>A (p.Ala32096Thr)	LOC126806421, TTN +1 more (A32096T +5 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 179891	NM_001267550.2(TTN):c.95848G>A (p.Glu31950Lys)	TTN, TTN-AS1 (E29382K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 165709	NM_001267550.2(TTN):c.95557C>T (p.Arg31853Cys)	TTN, TTN-AS1 (R29285C +5 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 47556	NM_001267550.2(TTN):c.95312G>A (p.Arg31771Lys)	TTN, TTN-AS1 (R31771K +5 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance

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