ClinVar for MedGen (Select 199874) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367089	NM_003085.5(SNCB):c.55G>A (p.Ala19Thr)	SNCB (A19T)	Single nucleotide variant (missense variant)	Lewy body dementia	GUncertain significance
Select item 3024092	NM_003085.5(SNCB):c.269C>T (p.Pro90Leu)	SNCB (P90L +1 more)	Single nucleotide variant (missense variant)	Lewy body dementia	GUncertain significance
Select item 2950001	NM_000345.4(SNCA):c.105G>A (p.Glu35=)	SNCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant Parkinson disease 1 +1 more	GLikely benign
Select item 2949370	NM_000345.4(SNCA):c.306+20G>A	SNCA	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 1 +1 more	GLikely benign
Select item 2947524	NM_000345.4(SNCA):c.375T>C (p.Tyr125=)	SNCA	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant Parkinson disease 1 +1 more	GLikely benign
Select item 2947523	NM_000345.4(SNCA):c.390+7G>C	SNCA	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 1 +1 more	GLikely benign
Select item 2942456	NM_000345.4(SNCA):c.396G>T (p.Gly132=)	SNCA	Single nucleotide variant (synonymous variant +1 more)	Lewy body dementia +1 more	GLikely benign
Select item 2940508	NM_000345.4(SNCA):c.401A>G (p.Gln134Arg)	SNCA (Q106R +2 more)	Single nucleotide variant (missense variant +1 more)	Lewy body dementia +1 more	GUncertain significance
Select item 2934109	NM_000345.4(SNCA):c.121+9A>C	SNCA	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 1 +1 more	GLikely benign
Select item 2933325	NM_000345.4(SNCA):c.164-16T>A	SNCA	Single nucleotide variant (intron variant)	Lewy body dementia +1 more	GLikely benign
Select item 2925064	NM_000345.4(SNCA):c.99A>G (p.Thr33=)	SNCA	Single nucleotide variant (synonymous variant +1 more)	Lewy body dementia +1 more	GLikely benign
Select item 2924961	NM_000345.4(SNCA):c.31G>T (p.Ala11Ser)	SNCA (A11S)	Single nucleotide variant (missense variant +1 more)	Lewy body dementia +1 more	GUncertain significance
Select item 2923907	NM_000345.4(SNCA):c.381G>A (p.Met127Ile)	SNCA (M79I +1 more)	Single nucleotide variant (missense variant +2 more)	Lewy body dementia +1 more	GLikely benign
Select item 2654947	NM_000345.4(SNCA):c.9A>G (p.Val3=)	SNCA	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 2436214	NM_003085.5(SNCB):c.37G>C (p.Glu13Gln)	SNCB (E13Q)	Single nucleotide variant (missense variant)	Lewy body dementia	GUncertain significance
Select item 2196956	NM_000345.4(SNCA):c.342A>C (p.Glu114Asp)	SNCA (E114D +1 more)	Single nucleotide variant (missense variant +2 more)	Lewy body dementia +1 more	GUncertain significance
Select item 2163003	NM_000345.4(SNCA):c.217G>A (p.Gly73Ser)	SNCA (G73S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant Parkinson disease 1 +1 more	GUncertain significance
Select item 2045977	NM_000345.4(SNCA):c.367G>A (p.Glu123Lys)	SNCA (E75K +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant Parkinson disease 1 +1 more	GUncertain significance
Select item 2038359	NM_000345.4(SNCA):c.349C>T (p.Pro117Ser)	SNCA (P69S +1 more)	Single nucleotide variant (missense variant +2 more)	Lewy body dementia +1 more	GLikely benign
Select item 1970513	NM_000345.4(SNCA):c.203G>A (p.Gly68Glu)	SNCA (G68E)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant Parkinson disease 1 +1 more	GUncertain significance
Select item 1902821	NM_000345.4(SNCA):c.307-13C>T	SNCA	Single nucleotide variant (intron variant)	Lewy body dementia +1 more	GLikely benign
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 1722541	NM_000157.4(GBA1):c.1361C>T (p.Pro454Leu)	GBA1, LOC106627981 (P367L +2 more)	Single nucleotide variant (missense variant)	Lewy body dementia	GPathogenic
Select item 1678622	NM_000345.4(SNCA):c.89C>G (p.Ala30Gly)	SNCA (A30G)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant Parkinson disease 4 +2 more	GConflicting classifications of pathogenicity
Select item 1670833	NM_000345.4(SNCA):c.246G>A (p.Val82=)	SNCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant Parkinson disease 1 +1 more	GLikely benign
Select item 1657000	NM_000345.4(SNCA):c.391-16A>G	SNCA	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 4 +2 more	GLikely benign
Select item 1654927	NM_000345.4(SNCA):c.121+13C>T	SNCA	Single nucleotide variant (intron variant)	Lewy body dementia +1 more	GLikely benign
Select item 1590414	NM_000345.4(SNCA):c.306+8T>C	SNCA	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 1 +1 more	GLikely benign
Select item 1553611	NM_000345.4(SNCA):c.390+11A>C	SNCA	Single nucleotide variant (intron variant)	Lewy body dementia +1 more	GLikely benign
Select item 1524438	NM_000345.4(SNCA):c.359C>T (p.Pro120Leu)	SNCA (P72L +1 more)	Single nucleotide variant (missense variant +2 more)	Lewy body dementia +1 more	GUncertain significance
Select item 1509118	NM_000345.4(SNCA):c.247G>C (p.Glu83Gln)	SNCA (E83Q)	Single nucleotide variant (missense variant +1 more)	Lewy body dementia +1 more	GUncertain significance
Select item 1472092	NM_000345.4(SNCA):c.391-7A>G	SNCA	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 1 +1 more	GUncertain significance
Select item 1454898	NC_000004.11:g.(?_90647779)_(90756818_?)dup	SNCA	Duplication	Lewy body dementia +1 more	GPathogenic
Select item 1393530	NM_000345.4(SNCA):c.158C>T (p.Ala53Val)	SNCA (A53V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant Parkinson disease 1 +2 more	GUncertain significance
Select item 1388864	NM_000345.4(SNCA):c.163+6C>A	SNCA	Single nucleotide variant (intron variant)	Lewy body dementia +1 more	GUncertain significance
Select item 1373474	NM_000345.4(SNCA):c.122-2A>C	SNCA	Single nucleotide variant (splice acceptor variant)	Autosomal dominant Parkinson disease 1 +1 more	GUncertain significance
Select item 1372807	NC_000004.11:g.(?_90647315)_(90756828_?)del	SNCA	Deletion	Lewy body dementia +1 more	GUncertain significance
Select item 1339894	GRCh37/hg19 4q22.1(chr4:90647779-90756863)x3	SNCA	Copy number gain	Lewy body dementia +1 more	Gnot provided
Select item 1333743	NM_003085.5(SNCB):c.100A>G (p.Lys34Glu)	SNCB (K34E)	Single nucleotide variant (missense variant)	Lewy body dementia	GUncertain significance
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 1210413	NM_000157.4(GBA1):c.1200G>A (p.Met400Ile)	GBA1, LOC106627981 (M313I +2 more)	Single nucleotide variant (missense variant)	not specified +7 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 1174817	NM_003085.5(SNCB):c.121+6T>C	SNCB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1147109	NM_000345.4(SNCA):c.306+7C>T	SNCA	Single nucleotide variant (intron variant)	Lewy body dementia +1 more	GLikely benign
Select item 1051847	NM_000345.4(SNCA):c.71A>G (p.Gln24Arg)	SNCA (Q24R)	Single nucleotide variant (missense variant +1 more)	Lewy body dementia +1 more	GUncertain significance
Select item 1020728	NM_000345.4(SNCA):c.*464C>A	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant Parkinson disease 1 +1 more	GUncertain significance
Select item 1009952	NM_000345.4(SNCA):c.47T>C (p.Val16Ala)	SNCA (V16A)	Single nucleotide variant (missense variant +1 more)	Lewy body dementia +1 more	GUncertain significance
Select item 1003636	NM_000345.4(SNCA):c.100A>G (p.Lys34Glu)	SNCA (K34E)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant Parkinson disease 1 +1 more	GUncertain significance
Select item 987870	NM_000157.4(GBA1):c.203dup (p.Thr69fs)	GBA1, LOC106627981 (T69fs)	Duplication (frameshift variant +1 more)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 932181	NM_000157.4(GBA1):c.661C>A (p.Pro221Thr)	GBA1, LOC106627981 (P134T +2 more)	Single nucleotide variant (missense variant)	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +8 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 907547	NM_000345.4(SNCA):c.382C>A (p.Pro128Thr)	SNCA (P80T +1 more)	Single nucleotide variant (missense variant +2 more)	Parkinson Disease, Dominant +2 more	GUncertain significance
Select item 907545	NM_000345.4(SNCA):c.*77C>A	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Lewy body dementia +4 more	GLikely benign
Select item 904210	NM_000345.4(SNCA):c.121+11C>T	SNCA	Single nucleotide variant (intron variant)	Lewy body dementia +3 more	GBenign/Likely benign
Select item 872747	NM_000345.4(SNCA):c.225A>T (p.Thr75=)	SNCA	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 836876	NM_007126.5(VCP):c.648A>G (p.Ile216Met)	VCP (I171M +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GUncertain significance
Select item 806230	NM_000157.4(GBA1):c.247C>T (p.Arg83Cys)	GBA1, LOC106627981 (R83C)	Single nucleotide variant (missense variant +1 more)	Gaucher disease perinatal lethal +8 more	GUncertain significance
Select item 806227	NM_000157.4(GBA1):c.1495G>A (p.Val499Met)	GBA1, LOC106627981 (V499M +2 more)	Single nucleotide variant (missense variant)	Gaucher disease perinatal lethal +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 772345	NM_000345.4(SNCA):c.156G>T (p.Val52=)	SNCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant Parkinson disease 1 +1 more	GLikely benign
Select item 767542	NM_000345.4(SNCA):c.147G>A (p.Val49=)	SNCA	Single nucleotide variant (synonymous variant +1 more)	Lewy body dementia +1 more	GLikely benign
Select item 763646	NM_000345.4(SNCA):c.163+7T>G	SNCA	Single nucleotide variant (intron variant)	Lewy body dementia +1 more	GLikely benign
Select item 705925	NM_000345.4(SNCA):c.216G>A (p.Thr72=)	SNCA	Single nucleotide variant (synonymous variant +1 more)	Parkinson Disease, Dominant +3 more	GConflicting classifications of pathogenicity
Select item 704527	NM_000345.4(SNCA):c.287A>G (p.Lys96Arg)	SNCA (K96R)	Single nucleotide variant (missense variant +1 more)	Parkinson Disease, Dominant +2 more	GBenign
Select item 652694	NM_000345.4(SNCA):c.349C>A (p.Pro117Thr)	SNCA (P117T +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant Parkinson disease 4 +2 more	GUncertain significance
Select item 642539	NM_000157.4(GBA1):c.222_224del (p.Thr75del)	GBA1, LOC106627981 (T75del)	Deletion (inframe_deletion +1 more)	Lewy body dementia +9 more	GPathogenic/Likely pathogenic
Select item 639372	NC_000004.11:g.(?_90647315)_(90756828_?)dup	SNCA	Duplication	Lewy body dementia +1 more	GPathogenic
Select item 633240	NM_000157.4(GBA1):c.762-1G>C	LOC106627981, GBA1	Single nucleotide variant (splice acceptor variant)	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +7 more	GPathogenic/Likely pathogenic
Select item 632835	NM_000157.4(GBA1):c.595_596del (p.Leu199fs)	GBA1, LOC106627981 (L150fs +2 more)	Deletion (frameshift variant)	Gaucher disease +9 more	GPathogenic
Select item 597184	NM_000157.4(GBA1):c.928A>G (p.Ser310Gly)	GBA1, LOC106627981 (S310G +2 more)	Single nucleotide variant (missense variant)	Lewy body dementia +7 more	GConflicting classifications of pathogenicity
Select item 596681	NM_000157.4(GBA1):c.1506-10_1506-9delinsGA	GBA1, LOC106627981	Indel (intron variant)	not provided +7 more	GUncertain significance
Select item 531846	NC_000004.11:g.(?_90647315)_(90756838_?)dup	SNCA	Duplication	Lewy body dementia +1 more	GPathogenic
Select item 522661	NM_000157.4(GBA1):c.104C>T (p.Ser35Leu)	GBA1 (S35L)	Single nucleotide variant (missense variant +1 more)	Gaucher disease +8 more	GUncertain significance
Select item 503740	NM_000157.4(GBA1):c.1224G>A (p.Thr408=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	Gaucher disease type II +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 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 350106	NM_000345.4(SNCA):c.243A>G (p.Thr81=)	SNCA	Single nucleotide variant (synonymous variant +1 more)	Lewy body dementia +3 more	GBenign/Likely benign
Select item 350105	NM_000345.4(SNCA):c.298T>C (p.Leu100=)	SNCA	Single nucleotide variant (synonymous variant +1 more)	Lewy body dementia +2 more	GConflicting classifications of pathogenicity
Select item 350104	NM_000345.4(SNCA):c.408C>T (p.Tyr136=)	SNCA	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 350103	NM_000345.4(SNCA):c.*139T>G	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 350098	NM_000345.4(SNCA):c.*501C>T	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Lewy body dementia +3 more	GBenign
Select item 256872	NM_000157.4(GBA1):c.1473C>T (p.Pro491=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	not provided +8 more	GLikely benign
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)	Parkinson disease, late-onset +8 more	GBenign/Likely benign
Select item 193611	NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs)	GBA1, LOC106627981 (L335fs +2 more)	Deletion (frameshift variant)	Gaucher disease +8 more	GPathogenic
Select item 162095	NM_000345.4(SNCA):c.150T>G (p.His50Gln)	SNCA (H50Q)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 93445	NM_000157.4(GBA1):c.115+1G>A	GBA1	Single nucleotide variant (intron variant +1 more)	Gaucher disease type I +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)	Gaucher disease perinatal lethal +9 more	GPathogenic/Likely pathogenic
Select item 14011	NC_000004.12:g.(?_89724098)_(89927969_89934809)dup	LOC129389225, MMRN1 +2 more	Duplication	Autosomal dominant Parkinson disease 1 +1 more	GPathogenic
Select item 14010	NM_000345.4(SNCA):c.136G>A (p.Glu46Lys)	SNCA (E46K)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant Parkinson disease 1 +1 more	GPathogenic
Select item 14007	NM_000345.4(SNCA):c.157G>A (p.Ala53Thr)	SNCA (A53T)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant Parkinson disease 1 +1 more	GPathogenic
Select item 7026	NM_003085.5(SNCB):c.368C>A (p.Pro123His)	SNCB (P123H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 7025	NM_003085.5(SNCB):c.208G>A (p.Val70Met)	SNCB (V70M +1 more)	Single nucleotide variant (missense variant)	Lewy body dementia	GPathogenic
Select item 4335	NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn)	GBA1, LOC106627981 (D395N +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset +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 4328	NM_000157.4(GBA1):c.887G>A (p.Arg296Gln)	GBA1, LOC106627981 (R296Q +2 more)	Single nucleotide variant (missense variant)	Gaucher disease perinatal lethal +9 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 type II +8 more	GPathogenic/Likely pathogenic

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