ClinVar for Gene (Select 23203) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236231	NM_015160.3(PMPCA):c.1330G>A (p.Val444Met)	PMPCA (V313M +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 2	GUncertain significance
Select item 3215849	NM_015160.3(PMPCA):c.811C>T (p.Leu271Phe)	LOC126860792, PMPCA (L140F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215848	NM_015160.3(PMPCA):c.743C>G (p.Pro248Arg)	LOC126860792, PMPCA (P117R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215847	NM_015160.3(PMPCA):c.604G>C (p.Glu202Gln)	LOC126860792, PMPCA (E202Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215846	NM_015160.3(PMPCA):c.49T>G (p.Ser17Ala)	PMPCA (S17A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3215845	NM_015160.3(PMPCA):c.361G>T (p.Ala121Ser)	PMPCA (A121S)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3215844	NM_015160.3(PMPCA):c.19G>A (p.Ala7Thr)	PMPCA (A7T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3215843	NM_015160.3(PMPCA):c.173C>T (p.Thr58Ile)	PMPCA (T58I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3215842	NM_015160.3(PMPCA):c.1559C>T (p.Thr520Met)	PMPCA (T389M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215841	NM_015160.3(PMPCA):c.1204C>G (p.Arg402Gly)	PMPCA (R402G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065168	NM_015160.3(PMPCA):c.802C>T (p.Arg268Trp)	LOC126860792, PMPCA (R137W +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 2	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3050130	NM_015160.3(PMPCA):c.1338C>T (p.Phe446=)	PMPCA	Single nucleotide variant (synonymous variant)	PMPCA-related disorder	GLikely benign
Select item 3027073	NM_015160.3(PMPCA):c.783G>T (p.Glu261Asp)	LOC126860792, PMPCA (E130D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026746	NM_015160.3(PMPCA):c.1060G>A (p.Gly354Arg)	PMPCA (G223R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020558	NM_015160.3(PMPCA):c.354+18T>G	PMPCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3017938	NM_015160.3(PMPCA):c.962T>C (p.Met321Thr)	PMPCA (M221T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015890	NM_015160.3(PMPCA):c.1452G>T (p.Met484Ile)	PMPCA (M484I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995312	NM_015160.3(PMPCA):c.827C>T (p.Pro276Leu)	LOC126860792, PMPCA (P276L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992148	NM_015160.3(PMPCA):c.275-19A>G	PMPCA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2988224	NM_015160.3(PMPCA):c.438-4C>T	PMPCA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986318	NM_015160.3(PMPCA):c.990+8C>G	PMPCA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981278	NM_015160.3(PMPCA):c.21G>T (p.Ala7=)	PMPCA	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2981236	NM_015160.3(PMPCA):c.486G>A (p.Thr162=)	PMPCA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2978278	NM_015160.3(PMPCA):c.898-2A>G	PMPCA	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2976454	NM_015160.3(PMPCA):c.313C>T (p.Leu105Phe)	PMPCA (L105F)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2976453	NM_015160.3(PMPCA):c.52T>C (p.Trp18Arg)	PMPCA (W18R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2967715	NM_015160.3(PMPCA):c.576G>A (p.Leu192=)	LOC126860792, PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966024	NM_015160.3(PMPCA):c.897+16C>T	PMPCA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957502	NM_015160.3(PMPCA):c.1201-20C>T	PMPCA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957189	NM_015160.3(PMPCA):c.1200+7G>T	PMPCA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895257	NM_015160.3(PMPCA):c.1065C>T (p.Pro355=)	PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889349	NM_015160.3(PMPCA):c.6G>T (p.Ala2=)	PMPCA	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2885341	NM_015160.3(PMPCA):c.1564C>T (p.Arg522Trp)	PMPCA (R422W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2842250	NM_015160.3(PMPCA):c.1506G>T (p.Thr502=)	PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841928	NM_015160.3(PMPCA):c.1209A>G (p.Glu403=)	PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794626	NM_015160.3(PMPCA):c.839G>A (p.Ser280Asn)	LOC126860792, PMPCA (S149N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788019	NM_015160.3(PMPCA):c.355-13T>A	PMPCA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2747916	NM_015160.3(PMPCA):c.1306A>T (p.Met436Leu)	PMPCA (M436L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722824	NM_015160.3(PMPCA):c.1373C>T (p.Ser458Phe)	PMPCA (S358F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722122	NM_015160.3(PMPCA):c.100del (p.Ser34fs)	PMPCA (S34fs)	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2721119	NM_015160.3(PMPCA):c.635C>T (p.Ala212Val)	LOC126860792, PMPCA (A212V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715128	NM_015160.3(PMPCA):c.11T>A (p.Val4Glu)	PMPCA (V4E)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2699371	NM_015160.3(PMPCA):c.203A>G (p.Lys68Arg)	PMPCA (K68R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2684590	GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3	ABCA2, AGPAT2 +95 more	Copy number gain	not provided	GPathogenic
Select item 2683092	NM_015160.3(PMPCA):c.1477G>A (p.Ala493Thr)	PMPCA (A362T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683091	NM_015160.3(PMPCA):c.704G>A (p.Arg235Gln)	LOC126860792, PMPCA (R104Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2673204	NM_015160.3(PMPCA):c.1575G>A (p.Arg525=)	PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659736	NM_015160.3(PMPCA):c.1525G>A (p.Ala509Thr)	PMPCA (A378T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659735	NM_015160.3(PMPCA):c.765C>A (p.Gly255=)	LOC126860792, PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620080	NM_015160.3(PMPCA):c.1124A>T (p.Tyr375Phe)	PMPCA (Y275F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613844	NM_015160.3(PMPCA):c.1214T>C (p.Val405Ala)	PMPCA (V405A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589179	NM_015160.3(PMPCA):c.919G>A (p.Val307Ile)	PMPCA (V176I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2583075	NM_015160.3(PMPCA):c.904A>C (p.Arg302=)	PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2572590	NM_015160.3(PMPCA):c.1204C>T (p.Arg402Ter)	PMPCA (R271* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive spinocerebellar ataxia 2	GLikely pathogenic
Select item 2572476	NM_015160.3(PMPCA):c.667C>T (p.Arg223Cys)	PMPCA, LOC126860792 (R123C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 2	GUncertain significance
Select item 2565109	NM_015160.3(PMPCA):c.16C>G (p.Leu6Val)	PMPCA (L6V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550687	NM_015160.3(PMPCA):c.749G>A (p.Arg250His)	LOC126860792, PMPCA (R250H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547769	NM_015160.3(PMPCA):c.1308G>A (p.Met436Ile)	PMPCA (M336I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546745	NM_015160.3(PMPCA):c.520C>G (p.Pro174Ala)	PMPCA (P74A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2515567	NM_015160.3(PMPCA):c.1370G>A (p.Arg457His)	PMPCA (R357H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2513264	NM_015160.3(PMPCA):c.1421C>T (p.Pro474Leu)	PMPCA (P343L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2501941	NM_015160.3(PMPCA):c.553C>T (p.Arg185Trp)	LOC126860792, PMPCA (R185W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2473812	NM_015160.3(PMPCA):c.136T>G (p.Ser46Ala)	PMPCA (S46A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463971	NM_015160.3(PMPCA):c.1165C>A (p.Leu389Ile)	PMPCA (L389I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2435095	NM_015160.3(PMPCA):c.71+3G>A	LOC130003010, PMPCA	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 2	GUncertain significance
Select item 2435094	NM_015160.3(PMPCA):c.1099G>A (p.Val367Met)	PMPCA (V236M +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 2	GUncertain significance
Select item 2427140	NC_000009.11:g.(?_139258754)_(139325589_?)dup	CARD9, ENTR1 +3 more	Duplication	Predisposition to invasive fungal disease due to CARD9 deficiency	GUncertain significance
Select item 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	ENTPD8, INPP5E +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426327	NC_000009.11:g.(?_138392557)_(141016451_?)del	ABCA2, AGPAT2 +85 more	Deletion	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2423367	NC_000009.11:g.(?_139089171)_(141016451_?)del	EGFL7, PAXX +73 more	Deletion	Rafiq syndrome	GPathogenic
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	ABCA2, ABO +100 more	Duplication	Autosomal dominant nocturnal frontal lobe epilepsy 5 +4 more	GUncertain significance
Select item 2409762	NM_015160.3(PMPCA):c.154C>T (p.Pro52Ser)	PMPCA (P52S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406836	NM_015160.3(PMPCA):c.607C>T (p.Pro203Ser)	LOC126860792, PMPCA (P103S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396090	NM_015160.3(PMPCA):c.1390G>A (p.Glu464Lys)	PMPCA (E464K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395864	NM_015160.3(PMPCA):c.1189G>A (p.Asp397Asn)	PMPCA (D297N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371301	NM_015160.3(PMPCA):c.850G>A (p.Val284Met)	PMPCA (V153M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313339	NM_015160.3(PMPCA):c.523C>T (p.Arg175Trp)	PMPCA (R175W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298138	NM_015160.3(PMPCA):c.316A>C (p.Ser106Arg)	PMPCA (L6F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297482	NM_015160.3(PMPCA):c.844G>C (p.Glu282Gln)	PMPCA (E182Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297291	NM_015160.3(PMPCA):c.1189G>T (p.Asp397Tyr)	PMPCA (D266Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289213	NM_015160.3(PMPCA):c.953C>T (p.Thr318Met)	PMPCA (T318M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280273	NM_015160.3(PMPCA):c.897+6G>C	PMPCA	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2272076	NM_015160.3(PMPCA):c.1457G>A (p.Arg486Gln)	PMPCA (R386Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223431	NM_015160.3(PMPCA):c.688G>A (p.Val230Ile)	LOC126860792, PMPCA (V230I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2220977	NM_015160.3(PMPCA):c.1264G>T (p.Val422Leu)	PMPCA (V322L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212287	NM_015160.3(PMPCA):c.1447A>G (p.Lys483Glu)	PMPCA (K383E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2208980	NM_015160.3(PMPCA):c.914C>T (p.Ser305Phe)	PMPCA (S205F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2207314	NM_015160.3(PMPCA):c.826C>T (p.Pro276Ser)	LOC126860792, PMPCA (P276S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LCN15, LCN6 +265 more	Copy number loss	See cases	GPathogenic
Select item 2189388	NM_015160.3(PMPCA):c.932C>T (p.Pro311Leu)	PMPCA (P211L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182203	NM_015160.3(PMPCA):c.1476C>T (p.Ala492=)	PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2155235	NM_015160.3(PMPCA):c.1425A>T (p.Glu475Asp)	PMPCA (E475D +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2152566	NM_015160.3(PMPCA):c.1098C>T (p.Asn366=)	PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2148767	NM_015160.3(PMPCA):c.1233G>A (p.Glu411=)	PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2126060	NM_015160.3(PMPCA):c.840C>T (p.Ser280=)	LOC126860792, PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2102632	NM_015160.3(PMPCA):c.1320A>G (p.Glu440=)	PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2098826	NM_015160.3(PMPCA):c.412G>T (p.Gly138Cys)	PMPCA (G138C)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2078581	NM_015160.3(PMPCA):c.1248C>T (p.Gly416=)	PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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