27429[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	C2orf74, CCT4 +768 more	Copy number gain	See cases	GPathogenic
Select item 155389	GRCh38/hg38 2p13.1-12(chr2:74375779-75517520)x1	AUP1, C2orf81 +87 more	Copy number loss	See cases	GLikely pathogenic
Select item 147468	GRCh38/hg38 2p13.1-12(chr2:74432069-75181627)x3	AUP1, CCDC142 +67 more	Copy number gain	See cases	GUncertain significance
Select item 1261136	NM_181575.5(AUP1):c.339+17C>T	AUP1, HTRA2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1202238	NM_181575.5(AUP1):c.188+32G>A	AUP1, HTRA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204115	NM_181575.5(AUP1):c.163G>A (p.Ala55Thr)	AUP1, HTRA2 (A55T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 896013	NM_181575.5(AUP1):c.141C>T (p.Ile47=)	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 337116	NM_181575.5(AUP1):c.129C>G (p.Leu43=)	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 2593467	NM_181575.5(AUP1):c.94G>T (p.Ala32Ser)	AUP1, HTRA2 (A32S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 337117	NM_181575.5(AUP1):c.90C>G (p.Leu30=)	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 2284291	NM_181575.5(AUP1):c.88C>T (p.Leu30Phe)	AUP1, HTRA2 (L30F)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2232161	NM_181575.5(AUP1):c.76C>T (p.Leu26Phe)	AUP1, HTRA2 (L26F)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2522573	NM_181575.5(AUP1):c.67T>G (p.Phe23Val)	AUP1, HTRA2 (F23V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 896014	NM_181575.5(AUP1):c.51-4C>T	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GLikely benign
Select item 337118	NM_181575.5(AUP1):c.25C>T (p.Pro9Ser)	AUP1, HTRA2 (P9S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2542836	NM_181575.5(AUP1):c.10C>G (p.Pro4Ala)	AUP1, HTRA2 (P4A)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 337119	NM_181575.5(AUP1):c.-15C>T	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GLikely benign
Select item 896015	NM_181575.5(AUP1):c.-17C>T	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 337120	NM_181575.5(AUP1):c.-19C>T	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 897609	NM_181575.5(AUP1):c.-54C>T	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GLikely benign
Select item 337121	NM_181575.5(AUP1):c.-64C>T	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 337122	NM_013247.4(HTRA2):c.-236G>C	HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 337123	NM_013247.4(HTRA2):c.-216G>A	HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 337124	NM_013247.4(HTRA2):c.-146G>A	HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GBenign
Select item 897610	NM_013247.4(HTRA2):c.-136C>T	HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 337125	NM_013247.4(HTRA2):c.-136C>G	HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 337126	NM_013247.4(HTRA2):c.-86G>C	HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 1535280	NM_013247.5(HTRA2):c.9G>A (p.Ala3=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1476988	NM_013247.5(HTRA2):c.10C>T (p.Pro4Ser)	HTRA2 (P4S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1568373	NM_013247.5(HTRA2):c.18G>A (p.Ala6=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1979756	NM_013247.5(HTRA2):c.26G>T (p.Gly9Val)	HTRA2 (G9V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2014283	NM_013247.5(HTRA2):c.44G>C (p.Arg15Pro)	HTRA2 (R15P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1401320	NM_013247.5(HTRA2):c.62G>C (p.Gly21Ala)	HTRA2 (G21A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1941845	NM_013247.5(HTRA2):c.64G>A (p.Gly22Ser)	HTRA2 (G22S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 898769	NM_013247.5(HTRA2):c.77G>A (p.Gly26Glu)	HTRA2 (G26E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2879336	NM_013247.5(HTRA2):c.78G>A (p.Gly26=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2172222	NM_013247.5(HTRA2):c.87C>T (p.Pro29=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2203108	NM_013247.5(HTRA2):c.106C>T (p.Arg36Trp)	HTRA2 (R36W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1413959	NM_013247.5(HTRA2):c.107G>A (p.Arg36Gln)	HTRA2 (R36Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1956315	NM_013247.5(HTRA2):c.109G>T (p.Ala37Ser)	HTRA2 (A37S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2121502	NM_013247.5(HTRA2):c.111C>T (p.Ala37=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1441037	NM_013247.5(HTRA2):c.113T>C (p.Leu38Pro)	HTRA2 (L38P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1492408	NM_013247.5(HTRA2):c.115C>A (p.Leu39Met)	HTRA2 (L39M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2216649	NM_013247.5(HTRA2):c.131C>G (p.Ser44Cys)	HTRA2 (S44C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2875923	NM_013247.5(HTRA2):c.139dup (p.Arg47fs)	HTRA2 (R47fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 735902	NM_013247.5(HTRA2):c.135C>T (p.Asp45=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2065418	NM_013247.5(HTRA2):c.136C>T (p.Pro46Ser)	HTRA2 (P46S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1947819	NM_013247.5(HTRA2):c.137C>G (p.Pro46Arg)	HTRA2 (P46R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1027794	NM_013247.5(HTRA2):c.146G>C (p.Arg49Pro)	HTRA2 (R49P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1402020	NM_013247.5(HTRA2):c.148G>A (p.Val50Met)	HTRA2 (V50M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1382981	NM_013247.5(HTRA2):c.157G>A (p.Gly53Arg)	HTRA2 (G53R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1522523	NM_013247.5(HTRA2):c.167G>A (p.Ser56Asn)	HTRA2 (S56N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1715835	NM_013247.5(HTRA2):c.173G>C (p.Trp58Ser)	HTRA2 (W58S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2074634	NM_013247.5(HTRA2):c.174G>T (p.Trp58Cys)	HTRA2 (W58C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1930735	NM_013247.5(HTRA2):c.178C>T (p.Arg60Trp)	HTRA2 (R60W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1361285	NM_013247.5(HTRA2):c.187G>A (p.Val63Ile)	HTRA2 (V63I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1633988	NM_013247.5(HTRA2):c.195C>T (p.Val65=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1950601	NM_013247.5(HTRA2):c.200A>G (p.Glu67Gly)	HTRA2 (E67G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 726830	NM_013247.5(HTRA2):c.202C>T (p.Pro68Ser)	HTRA2 (P68S)	Single nucleotide variant (missense variant +1 more)	HTRA2-related condition +1 more	GLikely benign
Select item 2025809	NM_013247.5(HTRA2):c.213C>T (p.Cys71=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 337127	NM_013247.5(HTRA2):c.215T>C (p.Leu72Pro)	HTRA2 (L72P)	Single nucleotide variant (missense variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to +2 more	GBenign/Likely benign
Select item 3000213	NM_013247.5(HTRA2):c.221C>T (p.Ser74Phe)	HTRA2 (S74F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1398005	NM_013247.5(HTRA2):c.235C>A (p.Pro79Thr)	HTRA2 (P79T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1603707	NM_013247.5(HTRA2):c.237C>T (p.Pro79=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2189530	NM_013247.5(HTRA2):c.239G>T (p.Arg80Leu)	HTRA2 (R80L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 337128	NM_013247.5(HTRA2):c.241G>A (p.Ala81Thr)	HTRA2 (A81T)	Single nucleotide variant (missense variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 1424738	NM_013247.5(HTRA2):c.244C>T (p.Gln82Ter)	HTRA2 (Q82*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1461789	NM_013247.5(HTRA2):c.251C>T (p.Thr84Ile)	HTRA2 (T84I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1652314	NM_013247.5(HTRA2):c.252T>G (p.Thr84=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1063527	NM_013247.5(HTRA2):c.254C>T (p.Ala85Val)	HTRA2 (A85V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2846608	NM_013247.5(HTRA2):c.276C>T (p.Thr92=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2784743	NM_013247.5(HTRA2):c.296C>T (p.Ser99Phe)	HTRA2 (S99F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1418119	NM_013247.5(HTRA2):c.298G>A (p.Gly100Arg)	HTRA2 (G100R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1310067	NM_013247.5(HTRA2):c.301A>G (p.Thr101Ala)	HTRA2 (T101A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2075252	NM_013247.5(HTRA2):c.305G>A (p.Arg102His)	HTRA2 (R102H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2714154	NM_013247.5(HTRA2):c.315G>A (p.Ala105=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2307421	NM_013247.5(HTRA2):c.316T>A (p.Trp106Arg)	HTRA2 (W106R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1597092	NM_013247.5(HTRA2):c.327G>A (p.Val109=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1901862	NM_013247.5(HTRA2):c.329C>G (p.Ala110Gly)	HTRA2 (A110G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2800813	NM_013247.5(HTRA2):c.330G>A (p.Ala110=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2049064	NM_013247.5(HTRA2):c.346dup (p.Ala116fs)	HTRA2 (A116fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 2975164	NM_013247.5(HTRA2):c.341G>C (p.Gly114Ala)	HTRA2 (G114A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1947766	NM_013247.5(HTRA2):c.342G>C (p.Gly114=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1901334	NM_013247.5(HTRA2):c.342G>T (p.Gly114=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1902512	NM_013247.5(HTRA2):c.345G>A (p.Gly115=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1642346	NM_013247.5(HTRA2):c.352C>T (p.Leu118=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1426112	NM_013247.5(HTRA2):c.353TGT[3] (p.Leu121del)	HTRA2 (L121del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 727861	NM_013247.5(HTRA2):c.354G>A (p.Leu118=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2103052	NM_013247.5(HTRA2):c.360G>T (p.Leu120Phe)	HTRA2 (L120F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1917007	NM_013247.5(HTRA2):c.361T>C (p.Leu121=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2020589	NM_013247.5(HTRA2):c.364_366del (p.Trp122del)	HTRA2 (W122del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2977436	NM_013247.5(HTRA2):c.375T>G (p.Gly125=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3004589	NM_013247.5(HTRA2):c.381T>G (p.Gly127=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1521151	NM_013247.5(HTRA2):c.383C>T (p.Pro128Leu)	HTRA2 (P128L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1367274	NM_013247.5(HTRA2):c.386C>T (p.Pro129Leu)	HTRA2 (P129L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2826836	NM_013247.5(HTRA2):c.387G>C (p.Pro129=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1027061	NM_013247.5(HTRA2):c.390C>A (p.Ala130=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2799046	NM_013247.5(HTRA2):c.403_419dup (p.Ala141fs)	HTRA2 (A141fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2868541	NM_013247.5(HTRA2):c.402C>G (p.Ala134=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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