C0037772[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1344855	NM_032756.4(HPDL):c.3G>C (p.Met1Ile)	HPDL, LOC129930439 (M1I)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities +1 more	GPathogenic
Select item 656694	NM_020435.4(GJC2):c.1134_1144del (p.Ala379fs)	GJC2 (A379fs)	Deletion (frameshift variant)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 410975	NM_002156.5(HSPD1):c.1712G>T (p.Gly571Val)	HSPD1 (G571V)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 410974	NM_002156.5(HSPD1):c.871C>G (p.Leu291Val)	HSPD1 (L291V)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 373642	NM_001244008.2(KIF1A):c.947G>A (p.Arg316Gln)	KIF1A (R316Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +5 more	GConflicting classifications of pathogenicity
Select item 209165	NM_001244008.2(KIF1A):c.38G>A (p.Arg13His)	KIF1A (R13H)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GPathogenic/Likely 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 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 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 561150	NM_004722.4(AP4M1):c.916C>T (p.Arg306Ter)	AP4M1 (R306* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 962151	NM_004820.5(CYP7B1):c.1457G>A (p.Arg486His)	CYP7B1 (R486H)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 5A +2 more	GUncertain significance
Select item 6105	NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter)	CYP7B1 (Y275*)	Single nucleotide variant (nonsense)	Spastic paraplegia +3 more	GPathogenic
Select item 288705	NM_004820.5(CYP7B1):c.530C>T (p.Thr177Met)	CYP7B1 (T177M)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 595578	NM_004820.5(CYP7B1):c.350A>C (p.Lys117Thr)	CYP7B1 (K117T)	Single nucleotide variant (missense variant)	Congenital bile acid synthesis defect 3 +2 more	GUncertain significance
Select item 241329	NM_020944.3(GBA2):c.1552C>T (p.Arg518Trp)	GBA2 (R518W)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 844142	NM_020944.3(GBA2):c.1357G>A (p.Ala453Thr)	GBA2 (A453T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 576676	NM_020944.3(GBA2):c.959G>A (p.Arg320Gln)	GBA2 (R320Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 527983	NM_020944.3(GBA2):c.659G>A (p.Gly220Asp)	GBA2 (G220D)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 657136	NM_020944.3(GBA2):c.266G>C (p.Cys89Ser)	GBA2 (C89S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 46 +2 more	GUncertain significance
Select item 1029910	NM_004984.4(KIF5A):c.1063G>T (p.Ala355Ser)	KIF5A (A355S +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 1031492	NM_004984.4(KIF5A):c.1240C>T (p.Arg414Trp)	KIF5A (R325W +1 more)	Single nucleotide variant (missense variant)	Myoclonus, intractable, neonatal +1 more	GConflicting classifications of pathogenicity
Select item 1029912	NM_004984.4(KIF5A):c.2590C>T (p.Arg864Ter)	KIF5A (R775* +1 more)	Single nucleotide variant (nonsense)	Myoclonus, intractable, neonatal +1 more	GConflicting classifications of pathogenicity
Select item 835530	NM_001478.5(B4GALNT1):c.1545G>A (p.Met515Ile)	B4GALNT1 (M460I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 26 +3 more	GUncertain significance
Select item 458224	NM_001478.5(B4GALNT1):c.728A>G (p.Glu243Gly)	B4GALNT1 (E243G +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 26 +1 more	GUncertain significance
Select item 60525	NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs)	B4GALNT1 (L89fs)	Duplication (frameshift variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 371248	NM_014363.6(SACS):c.13283dup (p.Tyr4428Ter)	SACS (Y4281* +1 more)	Duplication (nonsense)	Charlevoix-Saguenay spastic ataxia +1 more	GLikely pathogenic
Select item 848193	NM_014363.6(SACS):c.13252_13253del (p.Glu4418fs)	SACS (E4271fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic/Likely pathogenic
Select item 188912	NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter)	SACS (R4325* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 371466	NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs)	SACS (K4161fs +1 more)	Deletion (frameshift variant)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 189014	NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs)	SACS (E4137fs +1 more)	Microsatellite (frameshift variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 1456008	NM_014363.6(SACS):c.12839del (p.Phe4280fs)	SACS (F4133fs +1 more)	Deletion (frameshift variant)	Spastic paraplegia +1 more	GPathogenic
Select item 188867	NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter)	SACS (R4078* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 38458	NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)	SACS (Q4054* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 1430343	NM_014363.6(SACS):c.11724C>G (p.Tyr3908Ter)	SACS (Y3908* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 1033688	NM_014363.6(SACS):c.11576G>A (p.Arg3859His)	SACS (R3712H +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 557008	NM_014363.6(SACS):c.11373dup (p.Arg3792fs)	SACS (R3792fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic/Likely pathogenic
Select item 370283	NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)	SACS (R3792* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +2 more	GPathogenic
Select item 2159518	NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)	SACS	Deletion (inframe_indel)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1071138	NM_014363.6(SACS):c.11136del (p.Pro3713_Leu3714insTer)	SACS	Deletion (frameshift variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 1069976	NM_014363.6(SACS):c.11109del (p.Cys3704fs)	SACS (C3557fs +1 more)	Deletion (frameshift variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 2137464	NM_014363.6(SACS):c.11012_11013del (p.Gln3671fs)	SACS (Q3524fs +1 more)	Deletion (frameshift variant)	Spastic paraplegia +1 more	GPathogenic
Select item 2173830	NM_014363.6(SACS):c.10938_10941del (p.Lys3646fs)	SACS (K3499fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic
Select item 212108	NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)	SACS (R3636* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 1984514	NM_014363.6(SACS):c.10900C>T (p.Gln3634Ter)	SACS (Q3634* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 371095	NM_014363.6(SACS):c.10804C>T (p.Gln3602Ter)	SACS (Q3602* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic/Likely pathogenic
Select item 813434	NM_014363.6(SACS):c.10546C>T (p.Gln3516Ter)	SACS (Q3369* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 188710	NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs)	SACS (S3342fs +1 more)	Microsatellite (frameshift variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 371410	NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)	SACS (L3379* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 970885	NM_014363.6(SACS):c.10076C>T (p.Thr3359Ile)	SACS (T3212I +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 696269	NM_014363.6(SACS):c.10008A>G (p.Lys3336=)	SACS	Single nucleotide variant (synonymous variant)	Charlevoix-Saguenay spastic ataxia +3 more	GConflicting classifications of pathogenicity
Select item 817415	NM_014363.6(SACS):c.9956_9957del (p.Lys3319fs)	SACS (K3319fs +1 more)	Deletion (frameshift variant)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 280094	NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)	SACS (R3170* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 411687	NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser)	SACS (L3135S +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 280809	NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter)	SACS (L3102* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +3 more	GPathogenic
Select item 2115825	NM_014363.6(SACS):c.9266del (p.Pro3089fs)	SACS (P3089fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic/Likely pathogenic
Select item 2444089	NM_014363.6(SACS):c.9219_9220del (p.Cys3073_Asp3074delinsTer)	SACS	Microsatellite (nonsense)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 2678545	NM_014363.6(SACS):c.9106C>T (p.Gln3036Ter)	SACS (Q2889* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 5512	NM_014363.6(SACS):c.8844del (p.Ile2949fs)	SACS (I2802fs +1 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 2678551	NM_014363.6(SACS):c.8807del (p.Gly2936fs)	SACS (G2789fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic/Likely pathogenic
Select item 959991	NM_014363.6(SACS):c.8793dup (p.Arg2932fs)	SACS (R2785fs +1 more)	Duplication (frameshift variant)	Spastic paraplegia +3 more	GPathogenic/Likely pathogenic
Select item 449517	NM_014363.6(SACS):c.8793del (p.Lys2931fs)	SACS (K2784fs +1 more)	Deletion (frameshift variant)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 1027860	NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)	SACS (R2906* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 212115	NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)	SACS (P2798Q +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 994460	NM_014363.6(SACS):c.8192G>A (p.Arg2731His)	SACS (R2584H +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +2 more	GConflicting classifications of pathogenicity
Select item 2678573	NM_014363.6(SACS):c.8148del (p.Pro2717fs)	SACS (P2570fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic/Likely pathogenic
Select item 691964	NM_014363.6(SACS):c.8132C>T (p.Ser2711Leu)	SACS (S2564L +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 553081	NM_014363.6(SACS):c.8108G>A (p.Arg2703His)	SACS (R2703H +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 1458362	NM_014363.6(SACS):c.8107C>T (p.Arg2703Cys)	SACS (R2556C +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic/Likely pathogenic
Select item 553130	NM_014363.6(SACS):c.7903del (p.Cys2635fs)	SACS (C2488fs +1 more)	Deletion (frameshift variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 5513	NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)	SACS (R2502* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +3 more	GPathogenic
Select item 884138	NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu)	SACS (S2318L +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +4 more	GConflicting classifications of pathogenicity
Select item 189175	NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)	SACS (R2426* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 370415	NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter)	SACS (R2425* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 1457898	NM_014363.6(SACS):c.7252G>T (p.Glu2418Ter)	SACS (E2271* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic/Likely pathogenic
Select item 458274	NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs)	SACS (L2255fs +1 more)	Deletion (frameshift variant)	Spastic paraplegia +1 more	GPathogenic
Select item 448217	NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs)	SACS (T2241fs +1 more)	Deletion (frameshift variant)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 1395488	NM_014363.6(SACS):c.7080_7084del (p.His2362fs)	SACS (H2215fs +1 more)	Deletion (frameshift variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 2031062	NM_014363.6(SACS):c.6866_6867del (p.Thr2289fs)	SACS (T2142fs +1 more)	Deletion (frameshift variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 1331499	NM_014363.6(SACS):c.6837dup (p.Glu2280fs)	SACS (E2133fs +1 more)	Duplication (frameshift variant)	Spastic paraplegia +1 more	GPathogenic
Select item 689782	NM_014363.6(SACS):c.6434T>A (p.Leu2145Ter)	SACS (L1998* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic
Select item 556270	NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter)	SACS (R2119* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic
Select item 2678542	NM_014363.6(SACS):c.6045_6049del (p.Tyr2015_Lys2017delinsTer)	SACS	Deletion (nonsense)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 928541	NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs)	SACS (R1855fs +1 more)	Deletion (frameshift variant)	Spastic paraplegia +1 more	GPathogenic
Select item 556533	NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter)	SACS (R1907* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic
Select item 646225	NM_014363.6(SACS):c.5707_5708del (p.Asp1903fs)	SACS (D1903fs +1 more)	Deletion (frameshift variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 371545	NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter)	SACS (R1877* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia +2 more	GConflicting classifications of pathogenicity
Select item 938233	NM_014363.6(SACS):c.5582G>A (p.Trp1861Ter)	SACS (W1861* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia +2 more	GPathogenic/Likely pathogenic
Select item 1395285	NM_014363.6(SACS):c.5440_5449del (p.Glu1814fs)	SACS (E1814fs +1 more)	Deletion (frameshift variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 2678508	NM_014363.6(SACS):c.5405_5408del (p.Lys1802fs)	SACS (K1655fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic/Likely pathogenic
Select item 371470	NM_014363.6(SACS):c.5379del (p.Phe1793fs)	SACS (F1793fs +1 more)	Deletion (frameshift variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 448205	NM_014363.6(SACS):c.5151dup (p.Ser1718fs)	SACS (S1718fs +1 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia +4 more	GPathogenic
Select item 917652	NM_014363.6(SACS):c.5143A>T (p.Lys1715Ter)	SACS (K1568* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic
Select item 371484	NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter)	SACS (Q1709* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic
Select item 496950	NM_014363.6(SACS):c.5065_5066del (p.Ser1689fs)	SACS (S1542fs +1 more)	Microsatellite (frameshift variant)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 977804	NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter)	SACS (R1498* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic
Select item 458265	NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)	SACS (D1582N +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 450250	NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter)	SACS (L1411* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +2 more	GPathogenic
Select item 1437874	NM_014363.6(SACS):c.3745C>T (p.Gln1249Ter)	SACS (Q1249* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic/Likely pathogenic
Select item 212112	NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)	SACS (Q1143K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 371143	NM_014363.6(SACS):c.3356del (p.Pro1119fs)	SACS (P972fs +1 more)	Deletion (frameshift variant)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic

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