ClinVar for Gene (Select 23203) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363497	NM_015160.3(PMPCA):c.737dup (p.Tyr246Ter)	LOC126860792, PMPCA (Y115* +2 more)	Duplication (nonsense)	not provided	GUncertain significance
Select item 3308055	NM_015160.3(PMPCA):c.124A>T (p.Ile42Phe)	PMPCA (I42F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3308054	NM_015160.3(PMPCA):c.1573C>T (p.Arg525Trp)	PMPCA (R425W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252743	NM_015160.3(PMPCA):c.1541A>G (p.Asp514Gly)	PMPCA (D383G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251583	NM_015160.3(PMPCA):c.634-10T>A	LOC126860792, PMPCA	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3245352	NC_000009.11:g.(?_139304522)_(139309119_?)del	PMPCA, ENTR1	Deletion	not provided	GPathogenic
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3245277	NC_000009.11:g.(?_139297240)_(139410566_?)del	C9orf163, ENTR1 +4 more	Deletion	Adams-Oliver syndrome 5	GPathogenic
Select item 3245126	NC_000009.11:g.(?_139265559)_(139333126_?)del	CARD9, ENTR1 +3 more	Deletion	Familial aplasia of the vermis	GPathogenic
Select item 3238725	GRCh38/hg38 9q34.3(chr9:135338745-138124196)	ABCA2, AGPAT2 +344 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238708	GRCh38/hg38 9q34.3(chr9:135791488-138262981)	ABCA2, AGPAT2 +325 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238707	GRCh38/hg38 9q34.3(chr9:135203306-138100471)	LOC130003123, LOC130003124 +345 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238701	GRCh38/hg38 9q34.2-34.3(chr9:134288333-138155727)	ABCA2, AGPAT2 +388 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238700	GRCh38/hg38 9q34.3(chr9:136032451-138125938)	LOC130003044, LOC130003045 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238697	GRCh38/hg38 9q34.3(chr9:135008333-138199729)	ABCA2, AGPAT2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238694	GRCh38/hg38 9q34.3(chr9:135204722-138394717)	EHMT1, ENTPD2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238689	GRCh38/hg38 9q34.3(chr9:134642187-138121999)	ABCA2, AGPAT2 +367 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238669	GRCh38/hg38 9q34.3(chr9:135954288-138125938)	LOC130003073, LOC130003074 +310 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238659	GRCh38/hg38 9q34.3(chr9:135182209-138129711)	UBAC1, ZMYND19 +346 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238658	GRCh38/hg38 9q34.3(chr9:135969078-138104469)	LOC126860801, LOC129390118 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
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	DMAC1, DMRT1 +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 (5 prime UTR 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 +1 more	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)	not provided +1 more	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	STKLD1, STPG3 +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426327	NC_000009.11:g.(?_138392557)_(141016451_?)del	NOXA1, NPDC1 +85 more	Deletion	Adams-Oliver syndrome 5 +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	ABCA2, AGPAT2 +73 more	Deletion	Rafiq syndrome	GPathogenic
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	ABCA2, ABO +100 more	Duplication	Developmental and epileptic encephalopathy, 14 +4 more	GUncertain significance

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