rhododendron elasticum - ClinVar - NCBI

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The following term was not found in ClinVar: rhododendron.
Showing results for Rhododendron laoticum. Your search for Rhododendron laoticum retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2635021	NM_000478.6(ALPL):c.1084G>A (p.Ala362Thr)	ALPL (A285T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1031664	NM_000821.7(GGCX):c.2084+5G>A	GGCX	Single nucleotide variant (intron variant)	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency +1 more	GUncertain significance
Select item 16200	NM_000821.7(GGCX):c.1672G>A (p.Gly558Arg)	GGCX (G558R +1 more)	Single nucleotide variant (missense variant)	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	GPathogenic
Select item 995973	NM_000821.7(GGCX):c.1609G>T (p.Gly537Ter)	GGCX (G480* +1 more)	Single nucleotide variant (nonsense)	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	GPathogenic
Select item 995971	NM_000821.7(GGCX):c.1538G>A (p.Arg513Lys)	GGCX (R456K +1 more)	Single nucleotide variant (missense variant)	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	GPathogenic
Select item 337264	NM_000821.7(GGCX):c.1492C>T (p.Arg498Cys)	GGCX (R498C +1 more)	Single nucleotide variant (missense variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1 +1 more	GUncertain significance
Select item 16201	NM_000821.7(GGCX):c.1478G>C (p.Trp493Ser)	GGCX (W493S +1 more)	Single nucleotide variant (missense variant)	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	GPathogenic
Select item 16205	NM_000821.7(GGCX):c.1427G>A (p.Arg476His)	GGCX (R476H +1 more)	Single nucleotide variant (missense variant)	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	GPathogenic
Select item 3335889	NM_000821.7(GGCX):c.1426C>G (p.Arg476Gly)	GGCX (R476G +1 more)	Single nucleotide variant (missense variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GLikely pathogenic
Select item 16204	NM_000821.7(GGCX):c.1426C>T (p.Arg476Cys)	GGCX (R476C +1 more)	Single nucleotide variant (missense variant)	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	GPathogenic
Select item 896482	NM_000821.7(GGCX):c.1355G>C (p.Ser452Thr)	GGCX (S452T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 988875	NM_000821.7(GGCX):c.1217G>A (p.Arg406His)	GGCX (R349H +1 more)	Single nucleotide variant (missense variant)	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency +2 more	GUncertain significance
Select item 16202	NM_000821.7(GGCX):c.1120C>T (p.Gln374Ter)	GGCX (Q374* +1 more)	Single nucleotide variant (nonsense)	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	GPathogenic
Select item 16196	NM_000821.7(GGCX):c.899C>T (p.Ser300Phe)	GGCX (S300F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16199	NM_000821.7(GGCX):c.896T>C (p.Phe299Ser)	GGCX (F299S +1 more)	Single nucleotide variant (missense variant)	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	GPathogenic
Select item 16206	NM_000821.7(GGCX):c.763G>A (p.Val255Met)	GGCX (V255M +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 2203111	NM_000821.7(GGCX):c.247C>T (p.Arg83Trp)	GGCX (R26W +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 410336	NM_000388.4(CASR):c.1327C>A (p.Leu443Ile)	CASR (L443I)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +3 more	GUncertain significance
Select item 989059	NM_183075.3(CYP2U1):c.1A>C (p.Met1Leu)	CYP2U1, CYP2U1-AS1 (M1L)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 56	GPathogenic
Select item 1686869	NM_183075.3(CYP2U1):c.41del (p.Pro14fs)	CYP2U1, CYP2U1-AS1 (P14fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 56	GPathogenic
Select item 39502	NM_183075.3(CYP2U1):c.61_73del (p.Leu21fs)	CYP2U1, CYP2U1-AS1 (L21fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 56	GPathogenic
Select item 974827	NM_183075.3(CYP2U1):c.311_336dup (p.Val113delinsArgCysSerTrpLeuThrTer)	CYP2U1, CYP2U1-AS1	Duplication (nonsense)	Hereditary spastic paraplegia 56	GLikely pathogenic
Select item 409955	NM_183075.3(CYP2U1):c.308C>T (p.Pro103Leu)	CYP2U1, CYP2U1-AS1 (P103L)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 3065911	NM_183075.3(CYP2U1):c.343G>C (p.Gly115Arg)	CYP2U1, CYP2U1-AS1 (G115R)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 56	GUncertain significance
Select item 1068252	NM_183075.3(CYP2U1):c.343G>A (p.Gly115Ser)	CYP2U1, CYP2U1-AS1 (G115S)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 56 +3 more	GPathogenic/Likely pathogenic
Select item 1513885	NM_183075.3(CYP2U1):c.367_375del (p.Gly123_Tyr125del)	CYP2U1, CYP2U1-AS1	Deletion (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 56 +1 more	GUncertain significance
Select item 433182	NM_183075.3(CYP2U1):c.452C>T (p.Pro151Leu)	CYP2U1-AS1, LOC129992929 +1 more (P151L)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 56	GLikely pathogenic
Select item 2500180	NM_183075.3(CYP2U1):c.533G>C (p.Arg178Thr)	CYP2U1 (R178T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 56	GLikely pathogenic
Select item 1709880	NM_183075.3(CYP2U1):c.640G>T (p.Gly214Ter)	CYP2U1 (G214*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 56	GLikely pathogenic
Select item 989060	NM_183075.3(CYP2U1):c.719G>A (p.Arg240His)	CYP2U1 (R240H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 56 +2 more	GConflicting classifications of pathogenicity
Select item 804444	NM_183075.3(CYP2U1):c.739_742del (p.Glu247fs)	CYP2U1 (E247fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 56	GLikely pathogenic
Select item 1701472	NM_183075.3(CYP2U1):c.769C>T (p.Arg257Ter)	CYP2U1 (R257*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 39503	NM_183075.3(CYP2U1):c.784T>C (p.Cys262Arg)	CYP2U1 (C262R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 56	GPathogenic/Likely pathogenic
Select item 1686870	NM_183075.3(CYP2U1):c.808dup (p.Val270fs)	CYP2U1 (V270fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 56	GPathogenic
Select item 3255488	NM_183075.3(CYP2U1):c.913C>T (p.His305Tyr)	CYP2U1 (H305Y)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 56	GPathogenic
Select item 433183	NM_183075.3(CYP2U1):c.943C>T (p.Gln315Ter)	CYP2U1 (Q315*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 56	GPathogenic
Select item 39500	NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val)	CYP2U1 (D316V)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 377766	NM_183075.3(CYP2U1):c.1127-17T>C	CYP2U1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 39501	NM_183075.3(CYP2U1):c.1139A>G (p.Glu380Gly)	CYP2U1 (E380G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 56	GPathogenic
Select item 562229	NM_183075.3(CYP2U1):c.1168C>T (p.Arg390Ter)	CYP2U1 (R390*)	Single nucleotide variant (nonsense)	See cases +1 more	GPathogenic
Select item 429249	NM_183075.3(CYP2U1):c.1210_1211del (p.Glu404fs)	CYP2U1 (E404fs)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 864580	NM_183075.3(CYP2U1):c.1253C>T (p.Pro418Leu)	CYP2U1 (P418L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 56 +1 more	GUncertain significance
Select item 2430192	NM_183075.3(CYP2U1):c.1355A>T (p.Asp452Val)	CYP2U1 (D452V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 56	GConflicting classifications of pathogenicity
Select item 571544	NM_183075.3(CYP2U1):c.1376C>T (p.Pro459Leu)	CYP2U1 (P459L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 1686868	NM_183075.3(CYP2U1):c.1391C>G (p.Pro464Arg)	CYP2U1	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 56	GPathogenic
Select item 374541	NM_183075.3(CYP2U1):c.1396C>T (p.Arg466Ter)	CYP2U1 (R466*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 56 +1 more	GPathogenic
Select item 641459	NM_183075.3(CYP2U1):c.1397G>A (p.Arg466Gln)	CYP2U1 (R466Q)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1321252	NM_183075.3(CYP2U1):c.1459A>G (p.Lys487Glu)	CYP2U1 (K487E)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 56	GUncertain significance
Select item 39504	NM_183075.3(CYP2U1):c.1462C>T (p.Arg488Trp)	CYP2U1 (R488W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 635070	NM_183075.3(CYP2U1):c.1463G>A (p.Arg488Gln)	CYP2U1 (R488Q)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 989061	NM_183075.3(CYP2U1):c.1469G>A (p.Cys490Tyr)	CYP2U1 (C490Y)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 56	GPathogenic
Select item 2500895	NM_183075.3(CYP2U1):c.1547del (p.Pro516fs)	CYP2U1 (P516fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 56	GUncertain significance
Select item 2440674	NM_183075.3(CYP2U1):c.1586G>A (p.Gly529Asp)	CYP2U1 (G529D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 56	GUncertain significance
Select item 1699970	NC_000006.12:g.131688637_132215008del	CCN2, CCN2-AS1 +14 more	Deletion	Arterial calcification, generalized, of infancy, 1	GPathogenic
Select item 369514	NC_000006.12:g.131808012G>C	ENPP1	Single nucleotide variant	Arterial calcification, generalized, of infancy, 1 +2 more	GLikely benign
Select item 285777	NM_006208.3(ENPP1):c.-13G>A	ENPP1	Single nucleotide variant (5 prime UTR variant)	Arterial calcification, generalized, of infancy, 1 +2 more	GConflicting classifications of pathogenicity
Select item 193334	NM_006208.3(ENPP1):c.-10C>T	ENPP1	Single nucleotide variant (5 prime UTR variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 905766	NM_006208.3(ENPP1):c.10G>A (p.Asp4Asn)	ENPP1 (D4N)	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 1 +1 more	GUncertain significance
Select item 1699967	NM_006208.3(ENPP1):c.26dup (p.Gly10fs)	ENPP1 (G10fs)	Duplication (frameshift variant)	Arterial calcification, generalized, of infancy, 1 +1 more	GPathogenic
Select item 355324	NM_006208.3(ENPP1):c.21G>T (p.Ala7=)	ENPP1	Single nucleotide variant (synonymous variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 355325	NM_006208.3(ENPP1):c.154C>T (p.Pro52Ser)	ENPP1 (P52S)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 2 +2 more	GConflicting classifications of pathogenicity
Select item 906278	NM_006208.3(ENPP1):c.157A>G (p.Met53Val)	ENPP1 (M53V)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 355326	NM_006208.3(ENPP1):c.165G>A (p.Val55=)	ENPP1	Single nucleotide variant (synonymous variant)	Arterial calcification, generalized, of infancy, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1699964	NM_006208.3(ENPP1):c.196_197del (p.Ala66fs)	ENPP1 (A66fs)	Microsatellite (frameshift variant)	Arterial calcification, generalized, of infancy, 1 +1 more	GPathogenic
Select item 1699972	NM_006208.3(ENPP1):c.208A>T (p.Lys70Ter)	ENPP1 (K70*)	Single nucleotide variant (nonsense)	Arterial calcification, generalized, of infancy, 1	GPathogenic
Select item 906279	NM_006208.3(ENPP1):c.214C>T (p.Pro72Ser)	ENPP1 (P72S)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 1169635	NM_006208.3(ENPP1):c.313+8_313+9dup	ENPP1	Duplication (intron variant)	Arterial calcification, generalized, of infancy, 1 +5 more	GBenign/Likely benign
Select item 1669974	NM_006208.3(ENPP1):c.313+8_313+9insTTGTGTGT	ENPP1	Insertion (intron variant)	not provided +5 more	GLikely benign
Select item 355331	NM_006208.3(ENPP1):c.313+8_313+9insTTGTGT	ENPP1	Insertion (intron variant)	Hypophosphatemic Rickets, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 355330	NM_006208.3(ENPP1):c.313+8_313+9insTT	ENPP1	Insertion (intron variant)	Hypophosphatemic Rickets, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 355329	NM_006208.3(ENPP1):c.313+9GT[22]	ENPP1	Microsatellite (intron variant)	Hypophosphatemic Rickets, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 355328	NM_006208.3(ENPP1):c.313+9GT[20]	ENPP1	Microsatellite (intron variant)	Hypophosphatemic Rickets, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 355327	NM_006208.3(ENPP1):c.313+9_313+10insGGTG	ENPP1	Insertion (intron variant)	Hypophosphatemic Rickets, Recessive +2 more	GUncertain significance
Select item 355335	NM_006208.3(ENPP1):c.313+9G>T	ENPP1	Single nucleotide variant (intron variant)	Hypophosphatemic rickets, autosomal recessive, 2 +2 more	GBenign
Select item 355334	NM_006208.3(ENPP1):c.313+9GT[16]	ENPP1	Microsatellite (intron variant)	Hypophosphatemic Rickets, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 355333	NM_006208.3(ENPP1):c.313+9GT[17]	ENPP1	Microsatellite (intron variant)	Arterial calcification, generalized, of infancy, 1 +3 more	GConflicting classifications of pathogenicity
Select item 355332	NM_006208.3(ENPP1):c.313+9GT[18]	ENPP1	Microsatellite (intron variant)	Hypophosphatemic Rickets, Recessive +2 more	GBenign
Select item 355336	NM_006208.3(ENPP1):c.313+10T>G	ENPP1	Single nucleotide variant (intron variant)	Hypophosphatemic rickets, autosomal recessive, 2 +2 more	GConflicting classifications of pathogenicity
Select item 930370	NM_006208.3(ENPP1):c.313+11_313+15del	ENPP1	Deletion (intron variant)	Hypophosphatemic rickets, autosomal recessive, 2 +4 more	GBenign
Select item 907283	NM_006208.3(ENPP1):c.313+11G>T	ENPP1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 903941	NM_006208.3(ENPP1):c.313+13G>T	ENPP1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 903942	NM_006208.3(ENPP1):c.313+15G>T	ENPP1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 547984	NM_006208.3(ENPP1):c.323G>T (p.Cys108Phe)	ENPP1 (C108F)	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 1 +1 more	GLikely pathogenic
Select item 355337	NM_006208.3(ENPP1):c.332G>A (p.Arg111His)	ENPP1 (R111H)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 2 +2 more	GUncertain significance
Select item 903943	NM_006208.3(ENPP1):c.443C>G (p.Thr148Ser)	ENPP1 (T148S)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 1034254	NM_006208.3(ENPP1):c.484A>G (p.Ser162Gly)	ENPP1 (S162G)	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 1 +1 more	GUncertain significance
Select item 1699957	NM_006208.3(ENPP1):c.511A>T (p.Lys171Ter)	ENPP1 (K171*)	Single nucleotide variant (nonsense)	Arterial calcification, generalized, of infancy, 1 +1 more	GPathogenic
Select item 13589	NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln)	ENPP1 (K173Q)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign
Select item 722482	NM_006208.3(ENPP1):c.522C>T (p.Gly174=)	ENPP1	Single nucleotide variant (synonymous variant)	Arterial calcification, generalized, of infancy, 1 +2 more	GConflicting classifications of pathogenicity
Select item 905827	NM_006208.3(ENPP1):c.536A>G (p.Asn179Ser)	ENPP1 (N179S)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 2 +2 more	GConflicting classifications of pathogenicity
Select item 988599	NM_006208.3(ENPP1):c.556G>C (p.Gly186Arg)	ENPP1	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 1	GPathogenic
Select item 1699958	NM_006208.3(ENPP1):c.570G>T (p.Trp190Cys)	ENPP1 (W190C)	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 1	GUncertain significance
Select item 1699959	NM_006208.3(ENPP1):c.574del (p.Glu192fs)	ENPP1 (E192fs)	Deletion (frameshift variant)	Arterial calcification, generalized, of infancy, 1 +1 more	GPathogenic
Select item 1409337	NM_006208.3(ENPP1):c.595A>G (p.Asn199Asp)	ENPP1 (N199D)	Single nucleotide variant (missense variant)	Obesity +5 more	GUncertain significance
Select item 905828	NM_006208.3(ENPP1):c.601C>T (p.Pro201Ser)	ENPP1 (P201S)	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 1 +1 more	GUncertain significance
Select item 905829	NM_006208.3(ENPP1):c.614C>A (p.Ala205Glu)	ENPP1 (A205E)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 2 +6 more	GUncertain significance
Select item 953229	NM_006208.3(ENPP1):c.626C>T (p.Thr209Met)	ENPP1 (T209M)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1699968	NM_006208.3(ENPP1):c.665C>A (p.Ala222Glu)	ENPP1 (A222E)	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 1	GUncertain significance
Select item 906337	NM_006208.3(ENPP1):c.685G>A (p.Gly229Ser)	ENPP1 (G229S)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 2 +5 more	GUncertain significance
Select item 717550	NM_006208.3(ENPP1):c.750G>A (p.Pro250=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided +6 more	GLikely benign

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