ClinVar for MedGen (Select 98277) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 519

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3896379	NM_033305.3(VPS13A):c.9351_9391dup (p.Glu3131fs)	VPS13A (E3092fs +1 more)	Duplication (frameshift variant)	Chorea-acanthocytosis	GPathogenic
Select item 3892847	NM_033305.3(VPS13A):c.5963A>G (p.Lys1988Arg)	VPS13A (K1949R +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis	GUncertain significance
Select item 3892846	NM_033305.3(VPS13A):c.5660C>A (p.Thr1887Asn)	VPS13A (T1887N +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis	GUncertain significance
Select item 3892845	NM_033305.3(VPS13A):c.4964C>T (p.Pro1655Leu)	VPS13A (P1616L +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis	GUncertain significance
Select item 3892844	NM_033305.3(VPS13A):c.3159G>T (p.Gln1053His)	VPS13A (Q1053H)	Single nucleotide variant (missense variant +1 more)	Chorea-acanthocytosis	GUncertain significance
Select item 3892843	NM_033305.3(VPS13A):c.2183G>C (p.Arg728Thr)	VPS13A (R728T)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis	GUncertain significance
Select item 3780785	NM_033305.3(VPS13A):c.9189+2545TGA[13]	VPS13A	Microsatellite (intron variant)	Chorea-acanthocytosis	GUncertain significance
Select item 3777121	NM_033305.3(VPS13A):c.386-24A>G	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis	GUncertain significance
Select item 3777120	NM_033305.3(VPS13A):c.4863+2T>C	VPS13A	Single nucleotide variant (splice donor variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3766556	NM_033305.3(VPS13A):c.1850C>G (p.Thr617Ser)	VPS13A (T617S)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis	GUncertain significance
Select item 3603267	NM_033305.3(VPS13A):c.9275G>A (p.Arg3092His)	VPS13A (R3053H +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis	GUncertain significance
Select item 3603266	NM_033305.3(VPS13A):c.5247dup (p.Arg1750fs)	VPS13A (R1711fs +1 more)	Duplication (frameshift variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597708	NM_033305.3(VPS13A):c.9275+1G>T	VPS13A	Single nucleotide variant (splice donor variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597707	NM_033305.3(VPS13A):c.9219C>A (p.Tyr3073Ter)	VPS13A (Y3073* +1 more)	Single nucleotide variant (nonsense)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597706	NM_033305.3(VPS13A):c.9078-1G>A	VPS13A	Single nucleotide variant (splice acceptor variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597705	NM_033305.3(VPS13A):c.8872G>T (p.Glu2958Ter)	VPS13A (E2919* +1 more)	Single nucleotide variant (nonsense)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597704	NM_033305.3(VPS13A):c.8823C>A (p.Tyr2941Ter)	VPS13A (Y2902* +1 more)	Single nucleotide variant (nonsense)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597702	NM_033305.3(VPS13A):c.8743+1G>T	VPS13A	Single nucleotide variant (splice donor variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597701	NM_033305.3(VPS13A):c.8667+2T>C	VPS13A	Single nucleotide variant (splice donor variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597700	NM_033305.3(VPS13A):c.8620A>T (p.Arg2874Ter)	VPS13A (R2835* +1 more)	Single nucleotide variant (nonsense)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597699	NM_033305.3(VPS13A):c.8007del (p.Lys2669fs)	VPS13A (K2669fs +1 more)	Deletion (frameshift variant)	Chorea-acanthocytosis	GPathogenic
Select item 3597698	NM_033305.3(VPS13A):c.7698G>A (p.Trp2566Ter)	VPS13A (W2527* +1 more)	Single nucleotide variant (nonsense)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597697	NM_033305.3(VPS13A):c.7155+2T>C	VPS13A	Single nucleotide variant (splice donor variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597696	NM_033305.3(VPS13A):c.6762del (p.Phe2254fs)	VPS13A (F2254fs +1 more)	Deletion (frameshift variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597695	NM_033305.3(VPS13A):c.6622G>C (p.Val2208Leu)	VPS13A (V2169L +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis	GUncertain significance
Select item 3597694	NM_033305.3(VPS13A):c.6606C>A (p.Tyr2202Ter)	VPS13A (Y2163* +1 more)	Single nucleotide variant (nonsense)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597693	NM_033305.3(VPS13A):c.6558dup (p.Thr2187fs)	VPS13A (T2148fs +1 more)	Duplication (frameshift variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597692	NM_033305.3(VPS13A):c.6379-1G>A	VPS13A	Single nucleotide variant (splice acceptor variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597690	NM_033305.3(VPS13A):c.5991+1G>T	VPS13A	Single nucleotide variant (splice donor variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597689	NM_033305.3(VPS13A):c.5108C>G (p.Ser1703Ter)	VPS13A (S1703* +1 more)	Single nucleotide variant (nonsense)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597688	NM_033305.3(VPS13A):c.4502T>G (p.Val1501Gly)	VPS13A (V1501G +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis	GUncertain significance
Select item 3597687	NM_033305.3(VPS13A):c.4384A>T (p.Arg1462Ter)	VPS13A (R1462* +1 more)	Single nucleotide variant (nonsense)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597686	NM_033305.3(VPS13A):c.4242+2dup	VPS13A	Duplication (splice donor variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597685	NM_033305.3(VPS13A):c.3339+1G>A	VPS13A	Single nucleotide variant (splice donor variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597684	NM_033305.3(VPS13A):c.3088_3089delinsC (p.Glu1030fs)	VPS13A (E1030fs)	Indel (frameshift variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597683	NM_033305.3(VPS13A):c.3054_3057del (p.Glu1019fs)	VPS13A (E1019fs)	Deletion (frameshift variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597682	NM_033305.3(VPS13A):c.2543_2548delinsCAAAAATTTGATGCACCAA (p.Cys848_Pro850delinsSerLysIleTer)	VPS13A	Indel (nonsense)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597681	NM_033305.3(VPS13A):c.2513-1G>A	VPS13A	Single nucleotide variant (splice acceptor variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597679	NM_033305.3(VPS13A):c.2405_2408delinsTTA (p.Ser802fs)	VPS13A (S802fs)	Indel (frameshift variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597678	NM_033305.3(VPS13A):c.2367dup (p.Glu790Ter)	VPS13A (E790*)	Duplication (nonsense)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597677	NM_033305.3(VPS13A):c.2170+2T>C	VPS13A	Single nucleotide variant (splice donor variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597676	NM_033305.3(VPS13A):c.2170+2del	VPS13A	Deletion (splice donor variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597675	NM_033305.3(VPS13A):c.1893dup (p.Ala632fs)	VPS13A (A632fs)	Duplication (frameshift variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597674	NM_033305.3(VPS13A):c.1585C>T (p.Gln529Ter)	VPS13A (Q529*)	Single nucleotide variant (nonsense)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597673	NM_033305.3(VPS13A):c.1187_1188del (p.Val395_Phe396insTer)	VPS13A	Deletion (nonsense)	Chorea-acanthocytosis	GPathogenic
Select item 3597671	NM_033305.3(VPS13A):c.754+1G>C	VPS13A	Single nucleotide variant (splice donor variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597670	NM_033305.3(VPS13A):c.449dup (p.Asn150fs)	VPS13A (N150fs)	Duplication (frameshift variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597669	NM_033305.3(VPS13A):c.406C>T (p.Gln136Ter)	VPS13A (Q136*)	Single nucleotide variant (nonsense)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3597668	NM_033305.3(VPS13A):c.2T>A (p.Met1Lys)	VPS13A, VPS13A-AS1 (M1K)	Single nucleotide variant (non-coding transcript variant +2 more)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3468215	NM_033305.3(VPS13A):c.1213G>A (p.Ala405Thr)	VPS13A (A405T)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis +1 more	GUncertain significance
Select item 3468201	NM_033305.3(VPS13A):c.1994G>C (p.Ser665Thr)	VPS13A (S665T)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis +1 more	GUncertain significance
Select item 3374943	NM_033305.3(VPS13A):c.1195_1198del (p.Ile398_Thr399insTer)	VPS13A	Deletion (nonsense)	Chorea-acanthocytosis	GPathogenic
Select item 3367158	NM_033305.3(VPS13A):c.495+4_495+7del	VPS13A	Deletion (splice donor variant)	Chorea-acanthocytosis	GUncertain significance
Select item 3366999	NM_033305.3(VPS13A):c.7062dup (p.Leu2355fs)	VPS13A (L2316fs +1 more)	Duplication (frameshift variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3256776	NM_033305.3(VPS13A):c.8041A>T (p.Lys2681Ter)	VPS13A (K2642* +1 more)	Single nucleotide variant (nonsense)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3220898	NM_033305.3(VPS13A):c.2203dup (p.Val735fs)	VPS13A (V735fs)	Duplication (frameshift variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3067883	NM_033305.3(VPS13A):c.3943C>A (p.Gln1315Lys)	VPS13A (Q1276K +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis	GUncertain significance
Select item 2921085	NM_033305.3(VPS13A):c.9189+2495C>T	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis	GUncertain significance
Select item 2872166	NM_033305.3(VPS13A):c.5345G>A (p.Trp1782Ter)	VPS13A (W1743* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2821467	NM_033305.3(VPS13A):c.4900C>T (p.Gln1634Ter)	VPS13A (Q1595* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2814159	NM_033305.3(VPS13A):c.8656G>T (p.Glu2886Ter)	VPS13A (E2886* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2756363	NM_033305.3(VPS13A):c.7156-1G>C	VPS13A	Single nucleotide variant (splice acceptor variant)	Chorea-acanthocytosis +1 more	GLikely pathogenic
Select item 2690777	NM_033305.3(VPS13A):c.8744-2A>G	VPS13A	Single nucleotide variant (splice acceptor variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 2690776	NM_033305.3(VPS13A):c.7027-1G>A	VPS13A	Single nucleotide variant (splice acceptor variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 2671682	NM_033305.3(VPS13A):c.4356del (p.Ser1452_Leu1453insTer)	VPS13A	Deletion (frameshift variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 2627469	NM_033305.3(VPS13A):c.9067_9069delinsTGG (p.Gly3023Trp)	VPS13A (G2984W +1 more)	Indel (missense variant)	Chorea-acanthocytosis	GUncertain significance
Select item 2627468	NM_033305.3(VPS13A):c.3114del (p.Lys1038fs)	VPS13A (K1038fs)	Deletion (frameshift variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 2585440	NM_033305.3(VPS13A):c.6379-1G>C	VPS13A	Single nucleotide variant (splice acceptor variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 2584737	NM_033305.3(VPS13A):c.8148del (p.Phe2719fs)	VPS13A (F2680fs +1 more)	Deletion (frameshift variant)	Chorea-acanthocytosis	GPathogenic
Select item 2584736	NM_033305.3(VPS13A):c.5899del (p.Arg1967fs)	VPS13A (R1928fs +1 more)	Deletion (frameshift variant)	Chorea-acanthocytosis	GPathogenic
Select item 2577486	NM_033305.3(VPS13A):c.2951T>A (p.Leu984Ter)	VPS13A (L984*)	Single nucleotide variant (nonsense)	Chorea-acanthocytosis	GPathogenic
Select item 2577485	NM_033305.3(VPS13A):c.2512+1G>A	VPS13A	Single nucleotide variant (splice donor variant)	Chorea-acanthocytosis	GPathogenic
Select item 2577484	NM_033305.3(VPS13A):c.755-1G>A	VPS13A	Single nucleotide variant (splice acceptor variant)	Chorea-acanthocytosis	GPathogenic/Likely pathogenic
Select item 2577483	NM_033305.3(VPS13A):c.144+1G>C	VPS13A	Single nucleotide variant (splice donor variant)	Chorea-acanthocytosis	GPathogenic
Select item 2505072	NM_033305.3(VPS13A):c.8737G>A (p.Ala2913Thr)	VPS13A (A2874T +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis	Gnot provided
Select item 2438528	NM_033305.3(VPS13A):c.6297G>C (p.Trp2099Cys)	VPS13A (W2060C +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis	GUncertain significance
Select item 2434537	NM_033305.3(VPS13A):c.9243_9246del (p.Asn3082fs)	VPS13A (N3043fs +1 more)	Deletion (frameshift variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 2434520	NM_033305.3(VPS13A):c.844_848del (p.Glu282fs)	VPS13A (E282fs)	Deletion (frameshift variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 2431039	NM_033305.3(VPS13A):c.3743_3746dup (p.Ser1249fs)	VPS13A (S1210fs +1 more)	Microsatellite (frameshift variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 2415079	NM_033305.3(VPS13A):c.811G>T (p.Asp271Tyr)	VPS13A (D271Y)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis +1 more	GUncertain significance
Select item 2252712	NM_033305.3(VPS13A):c.126A>C (p.Gln42His)	VPS13A (Q42H)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis +1 more	GUncertain significance
Select item 2185547	NM_033305.3(VPS13A):c.6700C>T (p.Arg2234Ter)	VPS13A (R2234* +1 more)	Single nucleotide variant (nonsense)	Chorea-acanthocytosis +2 more	GPathogenic
Select item 2136783	NM_033305.3(VPS13A):c.9276-2A>T	VPS13A	Single nucleotide variant (splice acceptor variant)	Chorea-acanthocytosis +1 more	GPathogenic/Likely pathogenic
Select item 2136781	NM_033305.3(VPS13A):c.1616C>G (p.Ser539Ter)	VPS13A (S539*)	Single nucleotide variant (nonsense)	Chorea-acanthocytosis +1 more	GPathogenic/Likely pathogenic
Select item 2060475	NM_033305.3(VPS13A):c.6915del (p.Thr2306fs)	VPS13A (T2306fs +1 more)	Deletion (frameshift variant)	Chorea-acanthocytosis +1 more	GPathogenic/Likely pathogenic
Select item 1709453	NM_033305.3(VPS13A):c.7214T>G (p.Leu2405Ter)	VPS13A (L2366* +1 more)	Single nucleotide variant (nonsense)	Chorea-acanthocytosis +1 more	GPathogenic
Select item 1698814	NM_033305.3(VPS13A):c.1A>T (p.Met1Leu)	VPS13A, VPS13A-AS1 (M1L)	Single nucleotide variant (non-coding transcript variant +2 more)	Chorea-acanthocytosis	GLikely pathogenic
Select item 1691820	NM_033305.3(VPS13A):c.9263T>G (p.Met3088Arg)	VPS13A (M3049R +1 more)	Single nucleotide variant	Chorea-acanthocytosis	GLikely pathogenic
Select item 1684650	Single allele	VPS13A	Deletion	Chorea-acanthocytosis	GLikely pathogenic
Select item 1683674	NM_033305.3(VPS13A):c.5687T>C (p.Phe1896Ser)	VPS13A (F1857S +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis	GUncertain significance
Select item 1609634	NM_033305.3(VPS13A):c.4630+17A>G	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1523268	NM_033305.3(VPS13A):c.2512+2T>C	VPS13A	Single nucleotide variant (splice donor variant)	Chorea-acanthocytosis +1 more	GLikely pathogenic
Select item 1515185	NM_033305.3(VPS13A):c.188-2A>G	VPS13A	Single nucleotide variant (splice acceptor variant)	Chorea-acanthocytosis +1 more	GLikely pathogenic
Select item 1504982	NM_033305.3(VPS13A):c.386-2A>G	VPS13A	Single nucleotide variant (splice acceptor variant)	Chorea-acanthocytosis +1 more	GLikely pathogenic
Select item 1475534	NM_033305.3(VPS13A):c.7653-2A>G	VPS13A	Single nucleotide variant (splice acceptor variant)	Chorea-acanthocytosis +1 more	GLikely pathogenic
Select item 1458998	NM_033305.3(VPS13A):c.7867C>T (p.Arg2623Ter)	VPS13A (R2584* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1456540	NM_033305.3(VPS13A):c.2500del (p.Val834fs)	VPS13A (V834fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1454850	NM_033305.3(VPS13A):c.1125_1128del (p.Ser375fs)	VPS13A (S375fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1452296	NM_033305.3(VPS13A):c.3456_3459del (p.Ile1152fs)	VPS13A (I1152fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1409605	NM_033305.3(VPS13A):c.6096-3C>A	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance

<< First< Prev

Page of 6