10846[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	FBXO5, FNDC1 +865 more	Copy number gain	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	ACAT2, AFDN +571 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	ACAT2, AFDN +563 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	LOC129997707, LOC129997708 +548 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	ACAT2, AFDN +539 more	Copy number loss	See cases	GPathogenic
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	ACAT2, AFDN +339 more	Copy number loss	See cases	GPathogenic
Select item 58456	GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1	C6orf118, C6orf120 +321 more	Copy number loss	See cases	GPathogenic
Select item 150838	GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	AFDN, AFDN-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 58458	GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1	AFDN, AFDN-DT +299 more	Copy number loss	See cases	GPathogenic
Select item 144539	GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1	AFDN, AFDN-DT +297 more	Copy number loss	See cases	GPathogenic
Select item 155552	GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1	AFDN, AFDN-DT +277 more	Copy number loss	See cases	GPathogenic
Select item 2579276	GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1	AFDN, AFDN-DT +254 more	Copy number loss	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GPathogenic
Select item 58468	GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1	AFDN, AFDN-DT +247 more	Copy number loss	See cases	GPathogenic
Select item 58469	GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1	AFDN, AFDN-DT +243 more	Copy number loss	See cases	GPathogenic
Select item 58470	GRCh38/hg38 6q26-27(chr6:163420224-170608818)x1	AFDN, AFDN-DT +224 more	Copy number loss	See cases	GPathogenic
Select item 146089	GRCh38/hg38 6q27(chr6:164790270-170612001)x1	AFDN, AFDN-DT +203 more	Copy number loss	See cases	GPathogenic
Select item 152411	GRCh38/hg38 6q27(chr6:165126689-165424436)x3	C6orf118, LOC126859883 +2 more	Copy number gain	See cases	GLikely benign
Select item 1507084	NM_001385079.1(PDE10A):c.3154G>T (p.Ala1052Ser)	PDE10A (A776S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1384817	NM_001385079.1(PDE10A):c.3140C>T (p.Ala1047Val)	PDE10A (A1047V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1573217	NM_001385079.1(PDE10A):c.3135C>T (p.Ser1045=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1213809	NM_001385079.1(PDE10A):c.3128C>A (p.Ser1043Tyr)	PDE10A (S1043Y +2 more)	Single nucleotide variant (missense variant)	Infantile-onset generalized dyskinesia with orofacial involvement	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 1375999	NM_001385079.1(PDE10A):c.3098G>A (p.Arg1033Gln)	PDE10A (R1033Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2070204	NM_001385079.1(PDE10A):c.3066-15A>G	PDE10A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1559612	NM_001385079.1(PDE10A):c.3066-16C>T	PDE10A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1491346	NM_001385079.1(PDE10A):c.3042G>A (p.Thr1014=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	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 786541	NM_001385079.1(PDE10A):c.3033C>G (p.Leu1011=)	PDE10A	Single nucleotide variant (synonymous variant)	PDE10A-related disorder +1 more	GBenign
Select item 789513	NM_001385079.1(PDE10A):c.3012T>C (p.Tyr1004=)	PDE10A	Single nucleotide variant (synonymous variant)	PDE10A-related disorder +1 more	GBenign/Likely benign
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 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 747132	NM_001385079.1(PDE10A):c.2994C>T (p.Ala998=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720952	NM_001385079.1(PDE10A):c.2982G>A (p.Gly994=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1562585	NM_001385079.1(PDE10A):c.2977-10A>G	PDE10A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999243	NM_001385079.1(PDE10A):c.2977-19G>C	PDE10A	Single nucleotide variant (intron 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 735611	NM_001385079.1(PDE10A):c.2976+10A>G	PDE10A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2825216	NM_001385079.1(PDE10A):c.2955G>A (p.Lys985=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1615100	NM_001385079.1(PDE10A):c.2916G>A (p.Leu972=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 810040	NM_001385079.1(PDE10A):c.2896-8C>A	PDE10A	Single nucleotide variant (intron variant)	PDE10A-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 488874	NM_001385079.1(PDE10A):c.2889G>A (p.Trp963Ter)	PDE10A (W697* +2 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
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 2905333	NM_001385079.1(PDE10A):c.2847C>T (p.Pro949=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1708178	NM_001385079.1(PDE10A):c.2795T>G (p.Ile932Ser)	PDE10A (I656S +2 more)	Single nucleotide variant (missense variant)	Infantile-onset generalized dyskinesia with orofacial involvement	GLikely pathogenic
Select item 1580238	NM_001385079.1(PDE10A):c.2766T>C (p.Leu922=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734902	NM_001385079.1(PDE10A):c.2757A>G (p.Ser919=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1927875	NM_001385079.1(PDE10A):c.2751C>T (p.Thr917=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1306400	NM_001385079.1(PDE10A):c.2729A>G (p.Gln910Arg)	PDE10A (Q634R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1481152	NM_001385079.1(PDE10A):c.2649T>G (p.Ser883Arg)	PDE10A (S607R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800843	NM_001385079.1(PDE10A):c.2611-2A>G	PDE10A	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1605794	NM_001385079.1(PDE10A):c.2611-15G>T	PDE10A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1537612	NM_001385079.1(PDE10A):c.2611-17T>A	PDE10A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1912882	NM_001385079.1(PDE10A):c.2610+18G>A	PDE10A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899035	NM_001385079.1(PDE10A):c.2610+17C>T	PDE10A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987410	NM_001385079.1(PDE10A):c.2610+15G>A	PDE10A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1579486	NM_001385079.1(PDE10A):c.2610+14C>T	PDE10A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2000129	NM_001385079.1(PDE10A):c.2610G>A (p.Gln870=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1164776	NM_001385079.1(PDE10A):c.2607C>T (p.Leu869=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2657123	NM_001385079.1(PDE10A):c.2601C>T (p.Ser867=)	PDE10A	Single nucleotide variant (synonymous 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
Select item 871037	NM_001385079.1(PDE10A):c.2575C>T (p.Gln859Ter)	PDE10A (Q583* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1723772	NM_001385079.1(PDE10A):c.2570T>C (p.Met857Thr)	PDE10A (M581T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898928	NM_001385079.1(PDE10A):c.2544G>T (p.Leu848=)	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 713327	NM_001385079.1(PDE10A):c.2532C>T (p.Phe844=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1462602	NM_001385079.1(PDE10A):c.2519A>G (p.Tyr840Cys)	PDE10A (Y574C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057811	NM_001385079.1(PDE10A):c.2475G>A (p.Ala825=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1607341	NM_001385079.1(PDE10A):c.2455-15T>C	PDE10A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899091	NM_001385079.1(PDE10A):c.2455-16A>G	PDE10A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1633736	NM_001385079.1(PDE10A):c.2455-20C>T	PDE10A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1584405	NM_001385079.1(PDE10A):c.2454+13T>C	PDE10A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1920382	NM_001385079.1(PDE10A):c.2438T>A (p.Leu813His)	PDE10A (L537H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1623491	NM_001385079.1(PDE10A):c.2436G>A (p.Thr812=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1467017	NM_001385079.1(PDE10A):c.2435C>A (p.Thr812Lys)	PDE10A (T546K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1050406	NM_001385079.1(PDE10A):c.2427C>A (p.Asn809Lys)	PDE10A (N533K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1486150	NM_001385079.1(PDE10A):c.2406C>A (p.Cys802Ter)	PDE10A (C802* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 732171	NM_001385079.1(PDE10A):c.2391C>T (p.Val797=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1718481	NM_001385079.1(PDE10A):c.2387C>A (p.Ala796Glu)	PDE10A (A520E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 780668	NM_001385079.1(PDE10A):c.2289C>A (p.Ser763=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2063443	NM_001385079.1(PDE10A):c.2278G>A (p.Val760Ile)	PDE10A (V760I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1513872	NM_001385079.1(PDE10A):c.2265T>G (p.Ile755Met)	PDE10A (I489M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 425404	NM_001385079.1(PDE10A):c.2257C>G (p.Pro753Ala)	PDE10A (P487A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2637486	NM_001385079.1(PDE10A):c.2220-9A>C	PDE10A	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1415203	NM_001385079.1(PDE10A):c.2194G>A (p.Val732Met)	PDE10A (V732M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973611	NM_001385079.1(PDE10A):c.2184C>T (p.Phe728=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1708179	NM_001385079.1(PDE10A):c.2133_2142del (p.Ser712fs)	PDE10A (S436fs +2 more)	Deletion (frameshift variant)	Infantile-onset generalized dyskinesia with orofacial involvement	GLikely pathogenic
Select item 1916196	NM_001385079.1(PDE10A):c.2136C>T (p.Ser712=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929134	NM_001385079.1(PDE10A):c.2121G>A (p.Thr707=)	PDE10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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