ClinVar for Gene (Select 10846) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376773	NM_001385079.1(PDE10A):c.2113C>T (p.Arg705Trp)	PDE10A (R429W +2 more)	Single nucleotide variant (missense variant)	Infantile-onset generalized dyskinesia with orofacial involvement	GUncertain significance
Select item 3376772	NM_001385079.1(PDE10A):c.1838C>G (p.Thr613Arg)	PDE10A (T337R +2 more)	Single nucleotide variant (missense variant)	Infantile-onset generalized dyskinesia with orofacial involvement	GUncertain significance
Select item 3368675	NM_001385079.1(PDE10A):c.3002T>G (p.Ile1001Ser)	PDE10A (I1001S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366352	NM_001385079.1(PDE10A):c.2296A>T (p.Thr766Ser)	PDE10A (T490S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3357564	NM_001385079.1(PDE10A):c.866-32874A>G	PDE10A (I3V)	Single nucleotide variant (missense variant +1 more)	PDE10A-related disorder	GUncertain significance
Select item 3339791	NM_001385079.1(PDE10A):c.2994C>G (p.Ala998=)	PDE10A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3339790	NM_001385079.1(PDE10A):c.921T>A (p.Asp307Glu)	PDE10A (D307E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305338	NM_001385079.1(PDE10A):c.2644T>G (p.Ser882Ala)	PDE10A (S616A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257249	NM_001385079.1(PDE10A):c.405C>G (p.Ala135=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3251522	NM_001385079.1(PDE10A):c.2896-7A>G	PDE10A	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3233716	NM_001385079.1(PDE10A):c.804A>T (p.Glu268Asp)	PDE10A (E268D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210611	NM_001385079.1(PDE10A):c.860G>C (p.Ser287Thr)	PDE10A (S21T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3210610	NM_001385079.1(PDE10A):c.1858C>A (p.Pro620Thr)	PDE10A (P344T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3062910	GRCh37/hg19 6q26-27(chr6:162079329-170919482)x1	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 3046675	NM_001385079.1(PDE10A):c.2361G>T (p.Arg787=)	PDE10A	Single nucleotide variant (synonymous variant)	PDE10A-related disorder	GLikely benign
Select item 3038031	NM_001385079.1(PDE10A):c.866-32886T>A	PDE10A	Single nucleotide variant (5 prime UTR variant +1 more)	PDE10A-related disorder	GLikely benign
Select item 3026566	NM_001385079.1(PDE10A):c.517T>C (p.Leu173=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024682	NM_001385079.1(PDE10A):c.865+7093C>T	PDE10A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3024639	GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1	CCR6, CEP43 +33 more	Copy number loss	not provided	GPathogenic
Select item 2999243	NM_001385079.1(PDE10A):c.2977-19G>C	PDE10A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989733	NM_001385079.1(PDE10A):c.850T>G (p.Cys284Gly)	PDE10A (C18G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2988345	NM_001385079.1(PDE10A):c.1539G>T (p.Val513=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973611	NM_001385079.1(PDE10A):c.2184C>T (p.Phe728=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971208	NM_001385079.1(PDE10A):c.2976+12T>C	PDE10A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968072	NM_001385079.1(PDE10A):c.1240C>T (p.Arg414Cys)	PDE10A (R148C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965065	NM_001385079.1(PDE10A):c.2332A>G (p.Ile778Val)	PDE10A (I512V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957369	NM_001385079.1(PDE10A):c.812C>T (p.Pro271Leu)	PDE10A (P271L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2955952	NM_001385079.1(PDE10A):c.1317A>G (p.Leu439=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954896	NM_001385079.1(PDE10A):c.1890-19_1890-18delinsCC	PDE10A	Indel (intron variant)	not provided	GUncertain significance
Select item 2914781	NM_001385079.1(PDE10A):c.1034C>T (p.Thr345Met)	PDE10A (T79M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905333	NM_001385079.1(PDE10A):c.2847C>T (p.Pro949=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898928	NM_001385079.1(PDE10A):c.2544G>T (p.Leu848=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892414	NM_001385079.1(PDE10A):c.1812A>G (p.Lys604=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891986	NM_001385079.1(PDE10A):c.1593C>T (p.Asp531=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868200	NM_001385079.1(PDE10A):c.1517C>T (p.Ala506Val)	PDE10A (A230V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2863464	NM_001385079.1(PDE10A):c.1492-11G>T	PDE10A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2861894	NM_001385079.1(PDE10A):c.2670G>C (p.Glu890Asp)	PDE10A (E614D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2859886	NM_001385079.1(PDE10A):c.1959C>G (p.Ser653Arg)	PDE10A (S653R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2848290	NM_001385079.1(PDE10A):c.2146A>G (p.Ile716Val)	PDE10A (I450V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2842939	NM_001385079.1(PDE10A):c.1940C>A (p.Pro647His)	PDE10A (P381H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2825216	NM_001385079.1(PDE10A):c.2955G>A (p.Lys985=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823246	NM_001385079.1(PDE10A):c.1889+6A>T	PDE10A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2818958	NM_001385079.1(PDE10A):c.1178T>A (p.Leu393His)	PDE10A (L127H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818057	NM_001385079.1(PDE10A):c.2995G>A (p.Val999Met)	PDE10A (V723M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810563	NM_001385079.1(PDE10A):c.1113C>T (p.Leu371=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805473	NM_001385079.1(PDE10A):c.2544G>A (p.Leu848=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802746	NM_001385079.1(PDE10A):c.1990A>G (p.Ile664Val)	PDE10A (I388V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2755544	NM_001385079.1(PDE10A):c.2044G>A (p.Val682Ile)	PDE10A (V416I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2744263	NM_001385079.1(PDE10A):c.1035G>A (p.Thr345=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2743041	NM_001385079.1(PDE10A):c.844A>G (p.Thr282Ala)	PDE10A (T16A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2716334	NM_001385079.1(PDE10A):c.1156G>A (p.Asp386Asn)	PDE10A (D110N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2711728	NM_001385079.1(PDE10A):c.1188C>T (p.Cys396=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2695338	NM_001385079.1(PDE10A):c.3091G>A (p.Val1031Met)	PDE10A (V765M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684462	GRCh37/hg19 6q27(chr6:166033822-166488315)x3	PDE10A, SDIM1	Copy number gain	not provided	GUncertain significance
Select item 2657123	NM_001385079.1(PDE10A):c.2601C>T (p.Ser867=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637486	NM_001385079.1(PDE10A):c.2220-9A>C	PDE10A	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2630341	NM_001385079.1(PDE10A):c.2828_2829delinsGG (p.Ser943Trp)	PDE10A (S667W +2 more)	Indel (missense variant)	PDE10A-related disorder	GUncertain significance
Select item 2619783	NM_001385079.1(PDE10A):c.1069T>C (p.Tyr357His)	PDE10A (Y81H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597205	NM_001385079.1(PDE10A):c.1211C>T (p.Thr404Met)	PDE10A (T128M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2583044	GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1	AFDN, AGPAT4 +37 more	Copy number loss	not provided	GPathogenic
Select item 2579276	GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1	AFDN, AFDN-DT +255 more	Copy number loss	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GPathogenic
Select item 2579013	NC_000006.12:g.165986189C>T	LINC00473, PDE10A	Single nucleotide variant (genic upstream transcript variant)	not provided	GUncertain significance
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	ACAT2, AFDN +54 more	Copy number gain	not provided	GUncertain significance
Select item 2571267	NM_001385079.1(PDE10A):c.696C>T (p.Gly232=)	PDE10A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2503310	NM_001385079.1(PDE10A):c.1423G>A (p.Asp475Asn)	PDE10A (D199N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2473419	NM_001385079.1(PDE10A):c.2329T>G (p.Phe777Val)	PDE10A (F501V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472636	NM_001385079.1(PDE10A):c.1552G>T (p.Gly518Cys)	PDE10A (G518C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443408	NM_001385079.1(PDE10A):c.860G>A (p.Ser287Asn)	PDE10A (S21N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2367148	NM_001385079.1(PDE10A):c.2285G>A (p.Arg762Gln)	PDE10A (R496Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2322512	NM_001385079.1(PDE10A):c.913G>A (p.Val305Ile)	PDE10A (V305I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266148	NM_001385079.1(PDE10A):c.3011A>C (p.Tyr1004Ser)	PDE10A (Y738S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262144	NM_001385079.1(PDE10A):c.1094G>A (p.Gly365Glu)	PDE10A (G89E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244774	NM_001385079.1(PDE10A):c.1153G>A (p.Ala385Thr)	PDE10A (A119T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231783	NM_001385079.1(PDE10A):c.2742G>A (p.Met914Ile)	PDE10A (M648I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218975	NM_001385079.1(PDE10A):c.3041C>T (p.Thr1014Met)	PDE10A (T1014M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2159435	NM_001385079.1(PDE10A):c.997G>C (p.Glu333Gln)	PDE10A (E333Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2152716	NM_001385079.1(PDE10A):c.1278C>T (p.Thr426=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103857	NM_001385079.1(PDE10A):c.1866C>T (p.Ala622=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2088358	NM_001385079.1(PDE10A):c.2677C>G (p.Arg893Gly)	PDE10A (R617G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085833	NM_001385079.1(PDE10A):c.1105C>T (p.Gln369Ter)	PDE10A (Q103* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2085829	NM_001385079.1(PDE10A):c.1390_1391del (p.Val464fs)	PDE10A (V188fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2080278	NM_001385079.1(PDE10A):c.3107A>G (p.Glu1036Gly)	PDE10A (E770G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072830	NM_001385079.1(PDE10A):c.1854C>T (p.Asn618=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2070236	NM_001385079.1(PDE10A):c.2848G>A (p.Val950Ile)	PDE10A (V950I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070204	NM_001385079.1(PDE10A):c.3066-15A>G	PDE10A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2067045	NM_001385079.1(PDE10A):c.1354G>A (p.Gly452Ser)	PDE10A (G452S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063443	NM_001385079.1(PDE10A):c.2278G>A (p.Val760Ile)	PDE10A (V760I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2059987	NM_001385079.1(PDE10A):c.2931T>G (p.Ile977Met)	PDE10A (I711M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2057811	NM_001385079.1(PDE10A):c.2475G>A (p.Ala825=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2054551	NM_001385079.1(PDE10A):c.1202G>C (p.Cys401Ser)	PDE10A (C135S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2031793	NM_001385079.1(PDE10A):c.1698C>G (p.Phe566Leu)	PDE10A (F566L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2027120	NM_001385079.1(PDE10A):c.1082G>A (p.Arg361Gln)	PDE10A (R95Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2000129	NM_001385079.1(PDE10A):c.2610G>A (p.Gln870=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1991313	NM_001385079.1(PDE10A):c.2077-17_2077-16dup	PDE10A	Duplication (intron variant)	not provided	GBenign
Select item 1990953	NM_001385079.1(PDE10A):c.1766A>C (p.Lys589Thr)	PDE10A (K313T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1987410	NM_001385079.1(PDE10A):c.2610+15G>A	PDE10A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987191	NM_001385079.1(PDE10A):c.1195-12T>C	PDE10A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1982232	NM_001385079.1(PDE10A):c.1542+10T>C	PDE10A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1966760	NM_001385079.1(PDE10A):c.2595T>C (p.Thr865=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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