ClinVar for MedGen (Select 463618) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664885	NM_000669.5(ADH1C):c.1066A>G (p.Ile356Val)	ADH1C (I356V)	Single nucleotide variant (missense variant +1 more)	Parkinson disease, late-onset	GUncertain significance
Select item 2664884	NM_012084.4(GLUD2):c.256G>A (p.Val86Met)	GLUD2 (V86M)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GUncertain significance
Select item 2500802	NM_000157.4(GBA1):c.896T>A (p.Ile299Asn)	GBA1, LOC106627981 (I212N +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GLikely pathogenic
Select item 2369804	NM_000157.4(GBA1):c.232C>T (p.Arg78Cys)	GBA1, LOC106627981 (R78C)	Single nucleotide variant (missense variant +1 more)	Parkinson disease, late-onset +2 more	GUncertain significance
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 1804121	NC_000001.10:g.155183259_(155210558_155210826)del	GBA1	Deletion	Parkinson disease, late-onset	GLikely pathogenic
Select item 1685988	NM_006186.4(NR4A2):c.896G>T (p.Cys299Phe)	NR4A2 (C236F +1 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GPathogenic
Select item 1417517	NM_001377265.1(MAPT):c.1807C>T (p.Arg603Cys)	MAPT (R546C +6 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia +4 more	GUncertain significance
Select item 1345546	NM_001377265.1(MAPT):c.10C>A (p.Pro4Thr)	MAPT (P4T)	Single nucleotide variant (missense variant +1 more)	Supranuclear palsy, progressive, 1 +4 more	GUncertain significance
Select item 1333747	NM_000157.4(GBA1):c.1586A>G (p.His529Arg)	GBA1, LOC106627981 (H442R +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GUncertain significance
Select item 1333160	(AAGGG)exp	RFC1	Microsatellite	Parkinson disease, late-onset	GPathogenic
Select item 1319931	NM_000157.4(GBA1):c.1312G>C (p.Asp438His)	GBA1, LOC106627981 (D351H +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	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 1271108	NM_001377265.1(MAPT):c.2074G>A (p.Val692Ile)	MAPT (V242I +5 more)	Single nucleotide variant (intron variant +1 more)	Frontotemporal dementia +5 more	GBenign/Likely benign
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)	Gaucher disease type II +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 1126880	NM_001377265.1(MAPT):c.1881G>A (p.Ser627=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia +4 more	GLikely benign
Select item 1119997	NM_000157.4(GBA1):c.604C>T (p.Arg202Ter)	GBA1, LOC106627981 (R115* +2 more)	Single nucleotide variant (nonsense)	Parkinson disease, late-onset +3 more	GPathogenic/Likely pathogenic
Select item 996254	NM_000157.4(GBA1):c.635C>G (p.Ser212Ter)	GBA1, LOC106627981 (S125* +2 more)	Single nucleotide variant (nonsense)	Gaucher disease +2 more	GPathogenic
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 956359	NM_001377265.1(MAPT):c.89C>T (p.Thr30Ile)	MAPT (T30I)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia +4 more	GUncertain significance
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 930579	NM_006186.4(NR4A2):c.881dup (p.Asn294fs)	NR4A2 (N231fs +1 more)	Duplication (frameshift variant)	Parkinson disease, late-onset	GUncertain significance
Select item 929858	NM_002973.4(ATXN2):c.16CAG[33_?] (p.6Gln[33_?])	LOC130008791, ATXN2 +1 more	Microsatellite	Parkinson disease, late-onset +1 more	GPathogenic; risk factor
Select item 929501	NUBPL, 240-KB DEL AND 130-KB DUP	DTD2, GPR33 +2 more	Complex	Parkinson disease, late-onset	GPathogenic
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 894762	NM_006186.4(NR4A2):c.325C>A (p.Gln109Lys)	NR4A2 (Q109K +1 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GUncertain significance
Select item 894761	NM_006186.4(NR4A2):c.325C>G (p.Gln109Glu)	NR4A2 (Q109E +1 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GUncertain significance
Select item 894760	NM_006186.4(NR4A2):c.360T>G (p.Val120=)	NR4A2	Single nucleotide variant (synonymous variant)	Parkinson disease, late-onset	GUncertain significance
Select item 894759	NM_006186.4(NR4A2):c.372C>T (p.Pro124=)	NR4A2	Single nucleotide variant (synonymous variant)	Parkinson disease, late-onset	GUncertain significance
Select item 894758	NM_006186.4(NR4A2):c.591C>A (p.Pro197=)	NR4A2	Single nucleotide variant (synonymous variant)	Parkinson disease, late-onset	GUncertain significance
Select item 893841	NM_006186.4(NR4A2):c.1163A>T (p.Gln388Leu)	NR4A2 (Q325L +1 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GUncertain significance
Select item 893840	NM_006186.4(NR4A2):c.1170C>A (p.Asn390Lys)	NR4A2 (N390K +1 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GUncertain significance
Select item 893839	NM_006186.4(NR4A2):c.1230G>A (p.Leu410=)	NR4A2	Single nucleotide variant (synonymous variant)	Parkinson disease, late-onset	GUncertain significance
Select item 893838	NM_006186.4(NR4A2):c.1273C>T (p.Pro425Ser)	NR4A2 (P362S +1 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GUncertain significance
Select item 893837	NM_006186.4(NR4A2):c.1548C>T (p.His516=)	NR4A2	Single nucleotide variant (synonymous variant)	Parkinson disease, late-onset	GUncertain significance
Select item 893588	NM_006186.3(NR4A2):c.-437A>G	NR4A2	Single nucleotide variant	Parkinson disease, late-onset	GUncertain significance
Select item 893544	NM_006186.4(NR4A2):c.1588A>C (p.Lys530Gln)	NR4A2 (K467Q +1 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GUncertain significance
Select item 893543	NM_006186.4(NR4A2):c.1638G>A (p.Leu546=)	NR4A2	Single nucleotide variant (synonymous variant)	Parkinson disease, late-onset	GLikely benign
Select item 892777	NM_006186.4(NR4A2):c.-339C>A	NR4A2	Single nucleotide variant (5 prime UTR variant)	Parkinson disease, late-onset	GUncertain significance
Select item 892776	NM_006186.4(NR4A2):c.-304C>T	LOC129934941, NR4A2	Single nucleotide variant (5 prime UTR variant)	Parkinson disease, late-onset	GUncertain significance
Select item 892775	NM_006186.4(NR4A2):c.-253C>T	LOC129934941, NR4A2	Single nucleotide variant (5 prime UTR variant)	Parkinson disease, late-onset	GUncertain significance
Select item 892747	NM_006186.4(NR4A2):c.*599T>G	NR4A2	Single nucleotide variant (3 prime UTR variant)	Parkinson disease, late-onset	GUncertain significance
Select item 892746	NM_006186.4(NR4A2):c.*1017T>C	NR4A2	Single nucleotide variant (3 prime UTR variant)	Parkinson disease, late-onset	GUncertain significance
Select item 892745	NM_006186.4(NR4A2):c.*1249A>G	NR4A2	Single nucleotide variant (3 prime UTR variant)	Parkinson disease, late-onset	GLikely benign
Select item 870633	NM_002778.4(PSAP):c.470A>G (p.Asn157Ser)	PSAP (N157S)	Single nucleotide variant (missense variant)	Sphingolipid activator protein 1 deficiency	GUncertain significance
Select item 870632	NM_058246.4(DNAJB6):c.577A>G (p.Thr193Ala)	DNAJB6 (T193A)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 813338	NM_000157.4(GBA1):c.946C>T (p.Arg316Cys)	LOC106627981, GBA1 (R229C +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type II +6 more	GConflicting classifications of pathogenicity
Select item 813310	GRCh37/hg19 1q22(chr1:155188179-155209868)	GBA1	Copy number loss	Parkinson disease, late-onset	GPathogenic
Select item 806230	NM_000157.4(GBA1):c.247C>T (p.Arg83Cys)	GBA1, LOC106627981 (R83C)	Single nucleotide variant (missense variant +1 more)	Parkinson disease, late-onset +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)	not provided +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 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 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)	GBA1, LOC106627981 (L150fs +2 more)	Deletion (frameshift variant)	not provided +9 more	GPathogenic
Select item 632834	NM_000157.4(GBA1):c.653G>A (p.Trp218Ter)	GBA1, LOC106627981 (W218* +2 more)	Single nucleotide variant (nonsense)	Parkinson disease, late-onset +2 more	GPathogenic
Select item 599275	NM_000157.4(GBA1):c.1294T>A (p.Trp432Arg)	GBA1, LOC106627981 (W432R +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GPathogenic
Select item 597184	NM_000157.4(GBA1):c.928A>G (p.Ser310Gly)	GBA1, LOC106627981 (S310G +2 more)	Single nucleotide variant (missense variant)	not provided +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 562101	NR_002717.2(ATXN8OS):n.1103CTG[(107_127)]	ATXN8OS, ATXN8	Microsatellite	Parkinson disease, late-onset +1 more	GPathogenic; risk factor
Select item 562072	NG_008165.1:g.12526CAR[46_?]	LOC108663996, TBP	Microsatellite	Spinocerebellar ataxia type 17 +1 more	GPathogenic; risk factor
Select item 548576	NM_001377265.1(MAPT):c.47G>T (p.Gly16Val)	MAPT (G16V)	Single nucleotide variant (missense variant +1 more)	Parkinson disease, late-onset +3 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)	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 452810	NM_001377265.1(MAPT):c.1042T>C (p.Ser348Pro)	MAPT (S273P +1 more)	Single nucleotide variant (missense variant +1 more)	Supranuclear palsy, progressive, 1 +6 more	GUncertain significance
Select item 429936	NM_001377265.1(MAPT):c.1115C>T (p.Ala372Val)	MAPT (A297V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
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 331670	NM_006186.3(NR4A2):c.-384T>C	NR4A2	Single nucleotide variant	Parkinson disease, late-onset	GUncertain significance
Select item 331669	NM_006186.4(NR4A2):c.-325C>G	NR4A2	Single nucleotide variant (5 prime UTR variant)	Parkinson disease, late-onset	GUncertain significance
Select item 331668	NM_006186.4(NR4A2):c.-241C>G	LOC129934941, NR4A2	Single nucleotide variant (5 prime UTR variant)	Parkinson disease, late-onset	GUncertain significance
Select item 331667	NM_006186.4(NR4A2):c.-227C>G	LOC129934941, NR4A2	Single nucleotide variant (5 prime UTR variant)	Parkinson disease, late-onset	GUncertain significance
Select item 331666	NM_006186.4(NR4A2):c.-223C>T	LOC129934941, NR4A2	Single nucleotide variant (5 prime UTR variant)	Parkinson disease, late-onset	GLikely benign
Select item 331665	NM_006186.4(NR4A2):c.-166C>G	LOC129934941, NR4A2	Single nucleotide variant (5 prime UTR variant)	Parkinson disease, late-onset	GUncertain significance
Select item 331664	NM_006186.4(NR4A2):c.-144G>A	LOC129934941, NR4A2	Single nucleotide variant (5 prime UTR variant)	Parkinson disease, late-onset	GUncertain significance
Select item 331663	NM_006186.4(NR4A2):c.585C>T (p.Asp195=)	NR4A2	Single nucleotide variant (synonymous variant)	Parkinson disease, late-onset	GLikely benign
Select item 331662	NM_006186.4(NR4A2):c.657T>C (p.Ala219=)	NR4A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 331661	NM_006186.4(NR4A2):c.732C>A (p.Leu244=)	NR4A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 331660	NM_006186.4(NR4A2):c.1158+13C>T	NR4A2	Single nucleotide variant (intron variant)	Parkinson disease, late-onset	GUncertain significance
Select item 331659	NM_006186.4(NR4A2):c.1635G>T (p.Gly545=)	NR4A2	Single nucleotide variant (synonymous variant)	Parkinson disease, late-onset	GUncertain significance
Select item 331658	NM_006186.4(NR4A2):c.1659C>G (p.Ser553=)	NR4A2	Single nucleotide variant (synonymous variant)	Parkinson disease, late-onset	GUncertain significance
Select item 331657	NM_006186.4(NR4A2):c.1746G>A (p.Val582=)	NR4A2	Single nucleotide variant (synonymous variant)	Parkinson disease, late-onset	GUncertain significance
Select item 331656	NM_006186.4(NR4A2):c.*192C>G	NR4A2	Single nucleotide variant (3 prime UTR variant)	Parkinson disease, late-onset	GUncertain significance
Select item 331655	NM_006186.4(NR4A2):c.*331T>G	NR4A2	Single nucleotide variant (3 prime UTR variant)	Parkinson disease, late-onset	GBenign
Select item 331654	NM_006186.4(NR4A2):c.*352C>A	NR4A2	Single nucleotide variant (3 prime UTR variant)	Parkinson disease, late-onset	GBenign
Select item 331651	NM_006186.4(NR4A2):c.*822A>C	NR4A2	Single nucleotide variant (3 prime UTR variant)	Parkinson disease, late-onset	GUncertain significance
Select item 331650	NM_006186.4(NR4A2):c.*933G>A	NR4A2	Single nucleotide variant (3 prime UTR variant)	Parkinson disease, late-onset	GLikely benign
Select item 331649	NM_006186.4(NR4A2):c.*1198C>T	NR4A2	Single nucleotide variant (3 prime UTR variant)	Parkinson disease, late-onset	GUncertain significance
Select item 331648	NM_006186.3(NR4A2):c.*1311A>G	NR4A2	Single nucleotide variant	Parkinson disease, late-onset	GUncertain significance
Select item 257504	NM_001377265.1(MAPT):c.220+2535A>G	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia +7 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 225276	NM_198578.4(LRRK2):c.4321C>A (p.Arg1441Ser)	LRRK2 (R1441S)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GLikely pathogenic
Select item 218945	NM_001018111.3(PODXL):c.977G>A (p.Arg326Gln)	PODXL (R326Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 218944	NM_001018111.3(PODXL):c.1214G>A (p.Ser405Asn)	PODXL (S405N +1 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GUncertain significance
Select item 218943	NM_001018111.3(PODXL):c.1381C>A (p.Pro461Thr)	PODXL (P461T +1 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GUncertain significance
Select item 212789	NM_000157.4(GBA1):c.1220T>C (p.Ile407Thr)	GBA1, LOC106627981 (I407T +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GUncertain significance
Select item 209104	NM_000157.4(GBA1):c.1277C>T (p.Pro426Leu)	GBA1, LOC106627981 (P426L +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GUncertain significance

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