ClinVar for MedGen (Select 409531) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 121

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2687881	NM_000157.4(GBA1):c.444del (p.Ser149fs)	GBA1, LOC106627981 (S149fs +1 more)	Deletion (frameshift variant +1 more)	Gaucher disease type I	GLikely pathogenic
Select item 2627744	NM_000157.4(GBA1):c.907C>A (p.Leu303Ile)	LOC106627981, GBA1 (L216I +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GUncertain significance
Select item 2503944	NM_000157.4(GBA1):c.260G>A (p.Arg87Gln)	GBA1, LOC106627981 (R87Q)	Single nucleotide variant (missense variant +1 more)	Gaucher disease type I +1 more	GPathogenic/Likely pathogenic
Select item 1809693	NM_000157.4(GBA1):c.*92G>A	GBA1, LOC106627981	Single nucleotide variant (3 prime UTR variant)	Gaucher disease type II +6 more	GLikely benign
Select item 1704378	NM_000157.4(GBA1):c.484A>G (p.Met162Val)	GBA1, LOC106627981 (M113V +2 more)	Single nucleotide variant (missense variant)	Gaucher disease +2 more	GConflicting classifications of pathogenicity
Select item 1339116	NM_000157.4(GBA1):c.492C>G (p.Ser164Arg)	LOC106627981, GBA1 (S115R +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +2 more	GLikely pathogenic
Select item 1311272	NM_000157.4(GBA1):c.10T>C (p.Ser4Pro)	GBA1 (S4P)	Single nucleotide variant (missense variant +1 more)	Gaucher disease type II +7 more	GUncertain significance
Select item 1308050	NM_000157.4(GBA1):c.1043C>G (p.Ala348Gly)	GBA1, LOC106627981 (A261G +2 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 1211295	NM_000157.4(GBA1):c.1249T>G (p.Trp417Gly)	GBA1, LOC106627981 (W330G +2 more)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 1210415	NM_000157.4(GBA1):c.1474G>A (p.Asp492Asn)	GBA1, LOC106627981 (D405N +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GUncertain significance
Select item 1210414	NM_000157.4(GBA1):c.898G>A (p.Ala300Thr)	GBA1, LOC106627981 (A213T +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GUncertain significance
Select item 1210413	NM_000157.4(GBA1):c.1200G>A (p.Met400Ile)	GBA1, LOC106627981 (M313I +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type II +7 more	GUncertain significance
Select item 1199309	NM_000157.4(GBA1):c.1455A>G (p.Ala485=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	Gaucher disease type II +1 more	GUncertain significance
Select item 1199281	NM_000157.4(GBA1):c.1346C>T (p.Thr449Met)	LOC106627981, GBA1 (T362M +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +7 more	GUncertain significance
Select item 1184271	NM_000157.4(GBA1):c.1255G>A (p.Asp419Asn)	GBA1, LOC106627981 (D332N +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GLikely pathogenic
Select item 1065557	NM_000157.4(GBA1):c.914C>T (p.Pro305Leu)	GBA1, LOC106627981 (P218L +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GLikely pathogenic
Select item 987870	NM_000157.4(GBA1):c.203dup (p.Thr69fs)	GBA1, LOC106627981 (T69fs)	Duplication (frameshift variant +1 more)	Inborn genetic diseases +9 more	GPathogenic/Likely pathogenic
Select item 932298	NM_000157.4(GBA1):c.403_404del (p.Leu135fs)	GBA1, LOC106627981 (L48fs +1 more)	Deletion (frameshift variant +1 more)	Gaucher disease type I	GPathogenic
Select item 932297	NM_000157.4(GBA1):c.1214G>C (p.Ser405Thr)	GBA1, LOC106627981 (S405T +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GLikely pathogenic
Select item 932296	NM_000157.4(GBA1):c.1238A>C (p.His413Pro)	GBA1, LOC106627981 (H326P +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GLikely pathogenic
Select item 932181	NM_000157.4(GBA1):c.661C>A (p.Pro221Thr)	GBA1, LOC106627981 (P134T +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset +7 more	GPathogenic/Likely pathogenic
Select item 928837	NM_000157.4(GBA1):c.914del (p.Pro305fs)	GBA1, LOC106627981 (P218fs +2 more)	Deletion (frameshift variant)	Parkinson disease, late-onset +7 more	GPathogenic/Likely pathogenic
Select item 918140	NM_000157.4(GBA1):c.1184C>T (p.Ser395Phe)	GBA1, LOC106627981 (S308F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 917863	NM_000157.4(GBA1):c.1151C>T (p.Ser384Phe)	GBA1, LOC106627981 (S297F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 917862	NM_000157.4(GBA1):c.1599G>A (p.Trp533Ter)	LOC106627981, GBA1 (W446* +2 more)	Single nucleotide variant (nonsense)	Gaucher disease	GPathogenic
Select item 917860	NM_000157.4(GBA1):c.1077C>A (p.Ala359=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	Gaucher disease type I	GUncertain significance
Select item 869105	NM_000157.4(GBA1):c.557del (p.Phe186fs)	GBA1, LOC106627981 (F186fs +2 more)	Deletion (frameshift variant)	Gaucher disease type I	GPathogenic
Select item 813341	NM_000157.4(GBA1):c.509G>A (p.Arg170His)	GBA1, LOC106627981 (R83H +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +4 more	GConflicting classifications of pathogenicity
Select item 813340	NM_000157.4(GBA1):c.913C>G (p.Pro305Ala)	GBA1, LOC106627981 (P256A +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 813339	NM_000157.4(GBA1):c.929G>A (p.Ser310Asn)	GBA1, LOC106627981 (S223N +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 813338	NM_000157.4(GBA1):c.946C>T (p.Arg316Cys)	GBA1, LOC106627981 (R229C +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 813337	NM_000157.4(GBA1):c.970C>T (p.Arg324Cys)	GBA1, LOC106627981 (R275C +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 813336	NM_000157.4(GBA1):c.1174C>T (p.Arg392Trp)	GBA1, LOC106627981 (R305W +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +3 more	GPathogenic
Select item 813335	NM_000157.4(GBA1):c.1388+2T>C	LOC106627981, GBA1	Single nucleotide variant (splice donor variant)	Gaucher disease type I	GLikely pathogenic
Select item 806231	NM_000157.4(GBA1):c.168C>T (p.Val56=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 806230	NM_000157.4(GBA1):c.247C>T (p.Arg83Cys)	LOC106627981, GBA1 (R83C)	Single nucleotide variant (missense variant +1 more)	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +8 more	GUncertain significance
Select item 806227	NM_000157.4(GBA1):c.1495G>A (p.Val499Met)	LOC106627981, GBA1 (V499M +2 more)	Single nucleotide variant (missense variant)	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +7 more	GUncertain significance
Select item 801555	NM_000157.4(GBA1):c.1388G>C (p.Ser463Thr)	GBA1, LOC106627981 (S376T +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +6 more	GUncertain significance
Select item 694729	NM_000157.4(GBA1):c.1316G>A (p.Ser439Asn)	GBA1, LOC106627981 (S352N +2 more)	Single nucleotide variant (missense variant)	Gaucher disease perinatal lethal +4 more	GUncertain significance
Select item 689500	NM_000157.4(GBA1):c.999+242C>A	GBA1, LOC106627981	Single nucleotide variant (intron variant)	Gaucher disease type I	GPathogenic
Select item 642539	NM_000157.4(GBA1):c.222_224del (p.Thr75del)	GBA1, LOC106627981 (T75del)	Deletion (inframe_deletion +1 more)	Parkinson disease, late-onset +8 more	GPathogenic/Likely pathogenic
Select item 634558	NM_000157.4(GBA1):c.1495G>C (p.Val499Leu)	GBA1, LOC106627981 (V499L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 633240	NM_000157.4(GBA1):c.762-1G>C	GBA1, LOC106627981	Single nucleotide variant (splice acceptor variant)	Parkinson disease, late-onset +7 more	GPathogenic/Likely pathogenic
Select item 632835	NM_000157.4(GBA1):c.595_596del (p.Leu199fs)	LOC106627981, GBA1 (L150fs +2 more)	Deletion (frameshift variant)	Gaucher disease +9 more	GPathogenic
Select item 632834	NM_000157.4(GBA1):c.653G>A (p.Trp218Ter)	GBA1, LOC106627981 (W218* +2 more)	Single nucleotide variant (nonsense)	Gaucher disease type I +2 more	GPathogenic
Select item 623174	NM_000157.4(GBA1):c.1271T>C (p.Leu424Pro)	GBA1, LOC106627981 (L424P +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GLikely pathogenic
Select item 597184	NM_000157.4(GBA1):c.928A>G (p.Ser310Gly)	GBA1, LOC106627981 (S310G +2 more)	Single nucleotide variant (missense variant)	Gaucher disease perinatal lethal +7 more	GPathogenic/Likely pathogenic
Select item 596681	NM_000157.4(GBA1):c.1506-10_1506-9delinsGA	LOC106627981, GBA1	Indel (intron variant)	Gaucher disease perinatal lethal +7 more	GUncertain significance
Select item 522661	NM_000157.4(GBA1):c.104C>T (p.Ser35Leu)	GBA1 (S35L)	Single nucleotide variant (missense variant +1 more)	Lewy body dementia +7 more	GUncertain significance
Select item 503740	NM_000157.4(GBA1):c.1224G>A (p.Thr408=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 496080	NM_000157.4(GBA1):c.1052G>C (p.Trp351Ser)	GBA1, LOC106627981 (W351S +2 more)	Single nucleotide variant (missense variant)	Lewy body dementia +7 more	GLikely pathogenic
Select item 446214	NM_000179.3(MSH6):c.3822dup (p.Cys1275fs)	MSH6 (C973fs +2 more)	Duplication (frameshift variant)	Lynch syndrome 5 +1 more	GPathogenic
Select item 446213	NM_000157.4(GBA1):c.526G>A (p.Asp176Asn)	GBA1, LOC106627981 (D176N +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GPathogenic
Select item 424820	NM_000157.3(GBA1):c.[1197G>T];[1603C>T]			Gaucher disease type I	GLikely pathogenic
Select item 424819	NM_000157.3(GBA1):c.[1448T>C];[167T>G]			Gaucher disease type I	GLikely pathogenic
Select item 424818	NM_000157.3(GBA1):c.[1448T>C];[407C>T]			Gaucher disease type I	GLikely pathogenic
Select item 420153	NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys)	GBA1, LOC106627981 (R368C +2 more)	Single nucleotide variant (missense variant)	GBA1-related condition +7 more	GConflicting classifications of pathogenicity
Select item 281587	NM_000157.4(GBA1):c.637C>T (p.Leu213Phe)	GBA1, LOC106627981 (L213F +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +5 more	GConflicting classifications of pathogenicity
Select item 256873	NM_000157.4(GBA1):c.454+47G>A	GBA1, LOC106627981	Single nucleotide variant (intron variant)	Gaucher disease type I +2 more	GBenign
Select item 256872	NM_000157.4(GBA1):c.1473C>T (p.Pro491=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	Gaucher disease type I +8 more	GLikely benign
Select item 256871	NM_000157.4(GBA1):c.1225-34C>A	GBA1, LOC106627981	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 242810	NM_000157.4(GBA1):c.882T>G (p.His294Gln)	GBA1, LOC106627981 (H294Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GConflicting classifications of pathogenicity; other
Select item 242383	NM_000157.4(GBA1):c.1603C>T (p.Arg535Cys)	GBA1, LOC106627981 (R535C +2 more)	Single nucleotide variant (missense variant)	Gaucher disease +2 more	GPathogenic
Select item 236406	NM_000157.4(GBA1):c.866G>C (p.Gly289Ala)	GBA1, LOC106627981 (G289A +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GLikely pathogenic
Select item 236405	NM_000157.4(GBA1):c.1397T>G (p.Ile466Ser)	GBA1, LOC106627981 (I466S +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GLikely pathogenic
Select item 236402	NM_000157.4(GBA1):c.1459G>A (p.Ala487Thr)	LOC106627981, GBA1 (A487T +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GLikely pathogenic
Select item 236400	NM_000157.4(GBA1):c.1177C>G (p.Leu393Val)	GBA1, LOC106627981 (L393V +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GLikely pathogenic
Select item 236399	NM_000157.4(GBA1):c.415G>C (p.Ala139Pro)	GBA1, LOC106627981 (A139P +1 more)	Single nucleotide variant (missense variant +1 more)	Gaucher disease type I	GLikely pathogenic
Select item 198757	NM_000157.4(GBA1):c.896T>C (p.Ile299Thr)	GBA1, LOC106627981 (I299T +2 more)	Single nucleotide variant (missense variant)	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +8 more	GLikely pathogenic
Select item 198756	NM_000157.4(GBA1):c.762-18T>A	GBA1, LOC106627981	Single nucleotide variant (intron variant)	Inborn genetic diseases +9 more	GBenign/Likely benign
Select item 197702	NM_000157.4(GBA1):c.437C>T (p.Ser146Leu)	GBA1, LOC106627981 (S146L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 193611	NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs)	GBA1, LOC106627981 (L335fs +2 more)	Deletion (frameshift variant)	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +8 more	GPathogenic
Select item 93459	NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)	GBA1, LOC106627981 (G241R +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +6 more	GPathogenic/Likely pathogenic
Select item 93458	NM_000157.4(GBA1):c.681T>G (p.Asn227Lys)	GBA1, LOC106627981 (N227K +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +5 more	GPathogenic/Likely pathogenic
Select item 93457	NM_000157.4(GBA1):c.667T>C (p.Trp223Arg)	GBA1, LOC106627981 (W223R +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +5 more	GConflicting classifications of pathogenicity
Select item 93455	NM_000157.4(GBA1):c.625C>T (p.Arg209Cys)	GBA1, LOC106627981 (R209C +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +5 more	GPathogenic/Likely pathogenic
Select item 93453	NM_000157.4(GBA1):c.508C>T (p.Arg170Cys)	GBA1, LOC106627981 (R170C +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +5 more	GPathogenic
Select item 93449	NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)	GBA1, LOC106627981 (L483R +2 more)	Single nucleotide variant (missense variant)	GBA-related disorders +6 more	GPathogenic/Likely pathogenic
Select item 93448	NM_000157.4(GBA1):c.1240G>T (p.Val414Leu)	GBA1, LOC106627981 (V414L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 93446	NM_000157.4(GBA1):c.1171G>C (p.Val391Leu)	GBA1, LOC106627981 (V391L +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +5 more	GPathogenic/Likely pathogenic
Select item 93445	NM_000157.4(GBA1):c.115+1G>A	GBA1	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases +9 more	GPathogenic/Likely pathogenic
Select item 21072	NM_000157.4(GBA1):c.703T>C (p.Ser235Pro)	GBA1, LOC106627981 (S235P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +9 more	GPathogenic/Likely pathogenic
Select item 21070	NM_000157.4(GBA1):c.1505G>A (p.Arg502His)	GBA1, LOC106627981 (R502H +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 4335	NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn)	GBA1, LOC106627981 (D395N +2 more)	Single nucleotide variant (missense variant)	Lewy body dementia +8 more	GConflicting classifications of pathogenicity
Select item 4334	NM_001005741.2(GBA1):c.[880T>G;1342G>C]	GBA1, LOC106627981 (D448H +5 more)	Single nucleotide variant (missense variant)	Gaucher disease type II +1 more	GPathogenic
Select item 4332	NM_000157.4(GBA1):c.1228C>G (p.Leu410Val)	GBA1, LOC106627981 (L410V +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GPathogenic
Select item 4330	NM_000157.4(GBA1):c.354G>C (p.Lys118Asn)	GBA1, LOC106627981 (K118N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 4328	NM_000157.4(GBA1):c.887G>A (p.Arg296Gln)	GBA1, LOC106627981 (R296Q +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset +8 more	GPathogenic
Select item 4327	NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)	GBA1, LOC106627981 (G416S +2 more)	Single nucleotide variant (missense variant)	Gaucher disease perinatal lethal +8 more	GPathogenic/Likely pathogenic
Select item 4326	NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter)	GBA1, LOC106627981 (R398* +2 more)	Single nucleotide variant (nonsense)	Lewy body dementia +8 more	GPathogenic
Select item 4324	NM_000157.4(GBA1):c.1319C>T (p.Pro440Leu)	GBA1, LOC106627981 (P440L +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GPathogenic
Select item 4322	NM_000157.4(GBA1):c.533del (p.Pro178fs)	GBA1, LOC106627981 (P178fs +2 more)	Deletion (frameshift variant)	Gaucher disease type I	GLikely pathogenic
Select item 4321	NM_000157.4(GBA1):c.259C>T (p.Arg87Trp)	GBA1, LOC106627981 (R87W)	Single nucleotide variant (missense variant +1 more)	Gaucher disease perinatal lethal +9 more	GPathogenic
Select item 4320	NM_000157.4(GBA1):c.1208G>C (p.Ser403Thr)	GBA1, LOC106627981 (S403T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 4318	NM_000157.4(GBA1):c.1090G>A (p.Gly364Arg)	GBA1, LOC106627981 (G364R +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset +8 more	GLikely pathogenic
Select item 4317	NM_000157.4(GBA1):c.1053G>T (p.Trp351Cys)	GBA1, LOC106627981 (W351C +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GPathogenic
Select item 4316	NM_000157.4(GBA1):c.1043C>T (p.Ala348Val)	GBA1, LOC106627981 (A348V +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GPathogenic
Select item 4315	NM_000157.4(GBA1):c.763T>G (p.Phe255Val)	GBA1, LOC106627981 (F255V +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GPathogenic
Select item 4314	NM_000157.4(GBA1):c.680A>G (p.Asn227Ser)	GBA1, LOC106627981 (N227S +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset +8 more	GPathogenic
Select item 4313	NM_000157.4(GBA1):c.160G>T (p.Val54Leu)	GBA1, LOC106627981 (V54L)	Single nucleotide variant (missense variant +1 more)	Gaucher disease type I	GPathogenic

<< First< Prev

Page of 2