pseudorhabdosynochus young - ClinVar - NCBI

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The following term was not found in ClinVar: pseudorhabdosynochus.
Showing results for Pseudorhabdosynochus youngi. Your search for Pseudorhabdosynochus youngi retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 162431	NM_002617.4(PEX10):c.337del (p.Leu113fs)	PEX10 (L113fs)	Deletion (frameshift variant +2 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GPathogenic
Select item 465831	NM_007262.5(PARK7):c.293G>A (p.Arg98Gln)	PARK7 (R98Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1119998	NM_007262.5(PARK7):c.460A>G (p.Thr154Ala)	PARK7 (T154A)	Single nucleotide variant (missense variant)	Young-onset Parkinson disease	GLikely pathogenic
Select item 5228	NM_007375.4(TARDBP):c.1009A>G (p.Met337Val)	TARDBP	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +2 more	GPathogenic
Select item 3520	NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)	MTHFR (A222V +1 more)	Single nucleotide variant (missense variant)	methotrexate response - Toxicity	Gdrug response
Select item 1029392	NM_015378.4(VPS13D):c.293A>G (p.Asn98Ser)	VPS13D (N98S)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +1 more	GUncertain significance
Select item 1029394	NM_015378.4(VPS13D):c.530A>G (p.Lys177Arg)	VPS13D (K177R)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GUncertain significance
Select item 2438540	NM_015378.4(VPS13D):c.602C>G (p.Ala201Gly)	VPS13D (A201G)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GUncertain significance
Select item 1029395	NM_015378.4(VPS13D):c.614T>C (p.Ile205Thr)	VPS13D (I205T)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +2 more	GUncertain significance
Select item 1064611	NM_015378.4(VPS13D):c.941+3A>G	VPS13D	Single nucleotide variant (intron variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GLikely pathogenic
Select item 933227	NM_015378.4(VPS13D):c.946C>T (p.Arg316Ter)	VPS13D (R316*)	Single nucleotide variant (nonsense)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3255090	NM_015378.4(VPS13D):c.1055dup (p.Tyr352Ter)	VPS13D (Y352*)	Duplication (nonsense)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GPathogenic
Select item 1553443	NM_015378.4(VPS13D):c.1114G>A (p.Glu372Lys)	VPS13D (E372K)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +1 more	GBenign/Likely benign
Select item 1029390	NM_015378.4(VPS13D):c.1183C>T (p.Arg395Ter)	VPS13D (R395*)	Single nucleotide variant (nonsense)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GLikely pathogenic
Select item 1211865	NM_015378.4(VPS13D):c.1342A>G (p.Thr448Ala)	VPS13D (T448A)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +2 more	GUncertain significance
Select item 1321731	NM_015378.4(VPS13D):c.1414+5G>A	VPS13D	Single nucleotide variant (intron variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3065182	NM_015378.4(VPS13D):c.1868A>G (p.Glu623Gly)	VPS13D (E623G)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GUncertain significance
Select item 807523	NM_015378.4(VPS13D):c.2020C>T (p.Arg674Ter)	VPS13D (R674*)	Single nucleotide variant (nonsense)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GPathogenic
Select item 996333	NM_015378.4(VPS13D):c.2065C>T (p.Arg689Trp)	VPS13D (R689W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1805013	NM_015378.4(VPS13D):c.2225C>T (p.Thr742Met)	VPS13D (T742M)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +2 more	GUncertain significance
Select item 1805222	NM_015378.4(VPS13D):c.3106C>T (p.Arg1036Trp)	VPS13D (R1036W)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +1 more	GUncertain significance
Select item 1805014	NM_015378.4(VPS13D):c.3107G>A (p.Arg1036Gln)	VPS13D (R1036Q)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +1 more	GUncertain significance
Select item 1678552	NM_015378.4(VPS13D):c.3190A>T (p.Thr1064Ser)	VPS13D (T1064S)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GUncertain significance
Select item 561199	NM_015378.4(VPS13D):c.3316C>T (p.Gln1106Ter)	VPS13D (Q1106*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1285543	NM_015378.4(VPS13D):c.3353C>T (p.Thr1118Met)	VPS13D (T1118M)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GUncertain significance
Select item 561198	NM_015378.4(VPS13D):c.3569G>A (p.Gly1190Asp)	VPS13D (G1190D)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 996334	NM_015378.4(VPS13D):c.4022C>T (p.Ser1341Leu)	VPS13D (S1341L)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1029393	NM_015378.4(VPS13D):c.4451-16A>G	VPS13D	Single nucleotide variant (intron variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GUncertain significance
Select item 2149519	NM_015378.4(VPS13D):c.5075G>A (p.Arg1692Gln)	VPS13D (R1692Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2434589	NM_015378.4(VPS13D):c.5087dup (p.Pro1697fs)	VPS13D (P1697fs)	Duplication (frameshift variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GLikely pathogenic
Select item 1013507	NM_015378.4(VPS13D):c.5334T>A (p.Ser1778Arg)	VPS13D (S1778R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 561201	NM_015378.4(VPS13D):c.5409C>A (p.Tyr1803Ter)	VPS13D (Y1803*)	Single nucleotide variant (nonsense)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GPathogenic
Select item 2438539	NM_015378.4(VPS13D):c.5455G>A (p.Val1819Met)	VPS13D (V1819M)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GUncertain significance
Select item 2664706	NM_015378.4(VPS13D):c.5725+2dup	VPS13D	Duplication (splice donor variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GPathogenic
Select item 1903454	NM_015378.4(VPS13D):c.5802A>C (p.Arg1934Ser)	VPS13D (R1934S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1687430	NM_015378.4(VPS13D):c.5897G>A (p.Arg1966His)	VPS13D (R1966H)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GUncertain significance
Select item 1200573	NM_015378.4(VPS13D):c.6595A>G (p.Ser2199Gly)	VPS13D (S2199G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1905449	NM_015378.4(VPS13D):c.6965A>G (p.Tyr2322Cys)	VPS13D (Y2322C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 634498	NM_015378.4(VPS13D):c.7196G>T (p.Arg2399Leu)	VPS13D (R2399L)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GUncertain significance
Select item 561202	NM_015378.4(VPS13D):c.7334_7335del (p.Val2445fs)	VPS13D (V2445fs)	Microsatellite (frameshift variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GPathogenic
Select item 1029396	NM_015378.4(VPS13D):c.8363C>G (p.Pro2788Arg)	VPS13D (P2788R)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +2 more	GUncertain significance
Select item 1328116	NM_015378.4(VPS13D):c.8419G>A (p.Val2807Met)	VPS13D (V2807M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1274892	NM_015378.4(VPS13D):c.8658A>C (p.Pro2886=)	VPS13D	Single nucleotide variant (synonymous variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +1 more	GBenign
Select item 1341343	NM_015378.4(VPS13D):c.8903G>T (p.Arg2968Leu)	VPS13D (R2943L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GUncertain significance
Select item 1687497	NM_015378.4(VPS13D):c.8983C>T (p.Arg2995Ter)	VPS13D (R2970* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GLikely pathogenic
Select item 1029397	NM_015378.4(VPS13D):c.9157A>G (p.Ile3053Val)	VPS13D (I3028V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GUncertain significance
Select item 1328134	NM_015378.4(VPS13D):c.9196C>A (p.Leu3066Met)	VPS13D (L3041M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +1 more	GUncertain significance
Select item 873478	NM_015378.4(VPS13D):c.9304C>G (p.Pro3102Ala)	VPS13D (P3102A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1308623	NM_015378.4(VPS13D):c.9737A>G (p.Gln3246Arg)	VPS13D (Q3221R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3068580	NM_015378.4(VPS13D):c.9755T>G (p.Met3252Arg)	VPS13D (M3227R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GUncertain significance
Select item 2444418	NM_015378.4(VPS13D):c.9871+2T>C	VPS13D	Single nucleotide variant (splice donor variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GPathogenic
Select item 1306077	NM_015378.4(VPS13D):c.9928G>C (p.Glu3310Gln)	VPS13D (E3285Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +1 more	GUncertain significance
Select item 1027981	NM_015378.4(VPS13D):c.10169G>A (p.Arg3390Gln)	VPS13D (R3365Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +1 more	GUncertain significance
Select item 1805007	NM_015378.4(VPS13D):c.10205G>A (p.Arg3402His)	VPS13D (R3377H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GUncertain significance
Select item 1064612	NM_015378.4(VPS13D):c.10270C>T (p.Gln3424Ter)	VPS13D (Q3399* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GLikely pathogenic
Select item 1341344	NM_015378.4(VPS13D):c.10519T>G (p.Phe3507Val)	VPS13D (F3482V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GUncertain significance
Select item 1314358	NM_015378.4(VPS13D):c.10558G>T (p.Asp3520Tyr)	VPS13D (D3495Y +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +1 more	GUncertain significance
Select item 561203	NM_015378.4(VPS13D):c.10562A>G (p.Asn3521Ser)	VPS13D (N3521S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GLikely pathogenic
Select item 1806217	NM_015378.4(VPS13D):c.11062G>A (p.Ala3688Thr)	VPS13D (A3663T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +2 more	GUncertain significance
Select item 873479	NM_015378.4(VPS13D):c.11459A>T (p.Asn3820Ile)	VPS13D (N3795I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1703244	NM_015378.4(VPS13D):c.11926del (p.Gln3976fs)	VPS13D (Q3951fs +1 more)	Deletion (frameshift variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GPathogenic
Select item 1029391	NM_015378.4(VPS13D):c.12227G>A (p.Gly4076Glu)	VPS13D (G4051E +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GUncertain significance
Select item 1703245	NM_015378.4(VPS13D):c.12242T>C (p.Val4081Ala)	VPS13D (V4056A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GLikely pathogenic
Select item 2275456	NM_015378.4(VPS13D):c.12260G>A (p.Gly4087Glu)	VPS13D (G4062E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 983262	NM_015378.4(VPS13D):c.12350C>G (p.Ser4117Ter)	VPS13D (S4092* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GPathogenic
Select item 932894	NM_015378.4(VPS13D):c.12416C>T (p.Ala4139Val)	VPS13D (A4114V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +1 more	GLikely pathogenic
Select item 983263	NM_015378.4(VPS13D):c.12530G>A (p.Gly4177Asp)	VPS13D (G4152D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GLikely pathogenic
Select item 561200	NM_015378.4(VPS13D):c.12629C>T (p.Ala4210Val)	VPS13D (A4210V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 561204	NM_015378.4(VPS13D):c.12683G>A (p.Arg4228Gln)	VPS13D (R4228Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 807716	NM_015378.4(VPS13D):c.12743C>A (p.Ala4248Glu)	VPS13D (A4248E +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GLikely pathogenic
Select item 3068636	NM_015378.4(VPS13D):c.12846A>C (p.Lys4282Asn)	VPS13D (K4257N +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GUncertain significance
Select item 2584802	NM_022089.4(ATP13A2):c.1306+1G>C	ATP13A2	Single nucleotide variant (splice donor variant)	Kufor-Rakeb syndrome	GLikely pathogenic
Select item 12781	NM_003000.3(SDHB):c.725G>A (p.Arg242His)	SDHB (R242H)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +6 more	GPathogenic/Likely pathogenic
Select item 428931	NM_003000.3(SDHB):c.424-1G>A	SDHB	Single nucleotide variant (splice acceptor variant)	Paragangliomas 4 +3 more	GPathogenic
Select item 18454	NM_003000.3(SDHB):c.418G>T (p.Val140Phe)	SDHB (V140F)	Single nucleotide variant (missense variant)	Paragangliomas 4 +5 more	GPathogenic/Likely pathogenic
Select item 661098	NM_032409.3(PINK1):c.13C>T (p.Gln5Ter)	PINK1 (Q5*)	Single nucleotide variant (nonsense)	Autosomal recessive early-onset Parkinson disease 6	GPathogenic
Select item 2739036	NM_032409.3(PINK1):c.24C>T (p.Gly8=)	PINK1	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1356897	NM_032409.3(PINK1):c.25C>G (p.Arg9Gly)	PINK1 (R9G)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1374264	NM_032409.3(PINK1):c.47C>T (p.Ala16Val)	PINK1 (A16V)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GConflicting classifications of pathogenicity
Select item 2740590	NM_032409.3(PINK1):c.63C>T (p.Phe21=)	PINK1	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2043218	NM_032409.3(PINK1):c.65C>T (p.Thr22Met)	PINK1 (T22M)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 447940	NM_032409.3(PINK1):c.67G>A (p.Gly23Ser)	PINK1 (G23S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1602646	NM_032409.3(PINK1):c.69C>G (p.Gly23=)	PINK1	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1454290	NM_032409.3(PINK1):c.85_106del (p.Tyr29fs)	PINK1 (Y29fs)	Deletion (frameshift variant)	Autosomal recessive early-onset Parkinson disease 6	GPathogenic
Select item 1016581	NM_032409.3(PINK1):c.76G>C (p.Gly26Arg)	PINK1 (G26R)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2767231	NM_032409.3(PINK1):c.88G>A (p.Gly30Ser)	PINK1 (G30S)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 294997	NM_032409.3(PINK1):c.88G>C (p.Gly30Arg)	PINK1 (G30R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1399865	NM_032409.3(PINK1):c.101C>G (p.Pro34Arg)	PINK1 (P34R)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2724783	NM_032409.3(PINK1):c.113C>T (p.Ala38Val)	PINK1 (A38V)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1407492	NM_032409.3(PINK1):c.116G>T (p.Gly39Val)	PINK1 (G39V)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 939290	NM_032409.3(PINK1):c.124C>T (p.Arg42Cys)	PINK1 (R42C)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1951123	NM_032409.3(PINK1):c.129G>A (p.Gly43=)	PINK1	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1675350	NM_032409.3(PINK1):c.139G>C (p.Gly47Arg)	PINK1, MIR6084 (G47R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GUncertain significance
Select item 1510457	NM_032409.3(PINK1):c.141C>G (p.Gly47=)	MIR6084, PINK1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 703431	NM_032409.3(PINK1):c.153A>G (p.Gly51=)	MIR6084, PINK1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1698421	NM_032409.3(PINK1):c.158G>A (p.Gly53Asp)	MIR6084, PINK1 (G53D)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1030969	NM_032409.3(PINK1):c.161C>A (p.Ala54Glu)	MIR6084, PINK1 (A54E)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 294998	NM_032409.3(PINK1):c.165G>A (p.Glu55=)	MIR6084, PINK1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GConflicting classifications of pathogenicity
Select item 2202710	NM_032409.3(PINK1):c.170_175dup (p.Arg58_Val59insGlyArg)	MIR6084, PINK1	Duplication (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2142468	NM_032409.3(PINK1):c.173G>A (p.Arg58Lys)	MIR6084, PINK1 (R58K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance

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