3067[geneid] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
Select item 2206727	NM_002112.4(HDC):c.1946G>A (p.Cys649Tyr)	HDC (C616Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267104	NM_002112.4(HDC):c.1775T>C (p.Val592Ala)	HDC (V559A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262063	NM_002112.4(HDC):c.1771C>T (p.Pro591Ser)	HDC (P591S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773049	NM_002112.4(HDC):c.1743G>A (p.Thr581=)	HDC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3104658	NM_002112.4(HDC):c.1729A>T (p.Thr577Ser)	HDC (T577S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281295	NM_002112.4(HDC):c.1675G>A (p.Asp559Asn)	HDC (D526N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776888	NM_002112.4(HDC):c.1657T>C (p.Phe553Leu)	HDC (F553L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3060900	NM_002112.4(HDC):c.1614T>C (p.Asn538=)	HDC	Single nucleotide variant (synonymous variant)	HDC-related disorder	GBenign
Select item 2520863	NM_002112.4(HDC):c.1583G>A (p.Arg528His)	HDC (R495H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1333882	NM_002112.4(HDC):c.1568T>A (p.Ile523Asn)	HDC (I490N +1 more)	Single nucleotide variant (missense variant)	Tourette syndrome	GUncertain significance
Select item 2496456	NM_002112.4(HDC):c.1556C>G (p.Ala519Gly)	HDC (A519G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604731	NM_002112.4(HDC):c.1555G>T (p.Ala519Ser)	HDC (A486S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283720	NM_002112.4(HDC):c.1528A>G (p.Ser510Gly)	HDC (S477G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038401	NM_002112.4(HDC):c.1524T>C (p.Ser508=)	HDC	Single nucleotide variant (synonymous variant)	HDC-related disorder	GLikely benign
Select item 3104657	NM_002112.4(HDC):c.1511C>T (p.Thr504Met)	HDC (T471M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1033484	NM_002112.4(HDC):c.1511C>A (p.Thr504Lys)	HDC (T471K +1 more)	Single nucleotide variant (missense variant)	Tourette syndrome	GUncertain significance
Select item 713554	NM_002112.4(HDC):c.1480A>G (p.Ile494Val)	HDC (I461V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2533860	NM_002112.4(HDC):c.1456C>T (p.Arg486Trp)	HDC (R453W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390385	NM_002112.4(HDC):c.1438A>G (p.Thr480Ala)	HDC (T480A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405706	NM_002112.4(HDC):c.1234C>T (p.Arg412Cys)	HDC (R412C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251336	NM_002112.4(HDC):c.1188T>C (p.Pro396=)	HDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3064496	NM_002112.4(HDC):c.1133T>G (p.Val378Gly)	HDC (V378G)	Single nucleotide variant (missense variant +1 more)	Tourette syndrome	GUncertain significance
Select item 2474662	NM_002112.4(HDC):c.1078G>C (p.Val360Leu)	HDC (V360L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 14912	NM_002112.4(HDC):c.951G>A (p.Trp317Ter)	HDC (W317*)	Single nucleotide variant (nonsense)	Tourette syndrome	GPathogenic
Select item 3104664	NM_002112.4(HDC):c.889G>A (p.Asp297Asn)	HDC (D297N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496457	NM_002112.4(HDC):c.850C>A (p.Pro284Thr)	HDC (P284T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645325	NM_002112.4(HDC):c.813C>T (p.His271=)	HDC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2458312	NM_002112.4(HDC):c.794G>T (p.Arg265Leu)	HDC (R265L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 752661	NM_002112.4(HDC):c.723C>T (p.Val241=)	HDC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2375897	NM_002112.4(HDC):c.701G>A (p.Arg234Gln)	HDC (R234Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356114	NM_002112.4(HDC):c.697C>G (p.Gln233Glu)	HDC (Q233E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3034600	NM_002112.4(HDC):c.561C>T (p.Ala187=)	HDC	Single nucleotide variant (synonymous variant)	HDC-related disorder	GLikely benign
Select item 2303837	NM_002112.4(HDC):c.560C>T (p.Ala187Val)	HDC (A187V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104663	NM_002112.4(HDC):c.551G>A (p.Arg184Gln)	HDC (R184Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104662	NM_002112.4(HDC):c.524A>G (p.Asp175Gly)	HDC (D175G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2405955	NM_002112.4(HDC):c.523G>A (p.Asp175Asn)	HDC (D175N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104661	NM_002112.4(HDC):c.502G>C (p.Glu168Gln)	HDC (E168Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104660	NM_002112.4(HDC):c.460A>G (p.Thr154Ala)	HDC (T154A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104659	NM_002112.4(HDC):c.355G>A (p.Val119Ile)	HDC (V119I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216300	NM_002112.4(HDC):c.173T>C (p.Phe58Ser)	HDC (F58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104656	NM_002112.4(HDC):c.149A>C (p.Asp50Ala)	HDC (D50A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1227379	NM_002112.4(HDC):c.92C>T (p.Thr31Met)	HDC (T31M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2230920	NM_002112.4(HDC):c.76C>T (p.Arg26Trp)	HDC (R26W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645326	NM_002112.4(HDC):c.75G>A (p.Val25=)	HDC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3067887	NM_002112.4(HDC):c.32-2A>G	HDC	Single nucleotide variant (splice acceptor variant)	Tourette syndrome	GLikely pathogenic
Select item 2324928	NM_002112.4(HDC):c.18G>C (p.Glu6Asp)	HDC (E6D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239892	NM_002112.4(HDC):c.10C>A (p.Pro4Thr)	HDC (P4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395047	NM_002112.4(HDC):c.5T>C (p.Met2Thr)	HDC (M2T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685513	GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1	TMOD2, USP50 +43 more	Copy number loss	not provided	GPathogenic
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2578751	GRCh37/hg19 15q21.2(chr15:49775348-51221365)x1	AP4E1, ATP8B4 +10 more	Copy number loss	not provided	GUncertain significance
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +81 more	Copy number gain	not provided	GPathogenic
Select item 1703610	GRCh37/hg19 15q21.2(chr15:50550911-50902848)	GABPB1, HDC +3 more	Copy number loss	Neurodevelopmental delay	GUncertain significance
Select item 1526455	GRCh37/hg19 15q21.1-21.2(chr15:48940736-51309941)	AP4E1, ATP8B4 +16 more	Copy number loss	not specified	GUncertain significance
Select item 1526453	GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908)	CEP152, COPS2 +52 more	Copy number loss	not specified	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 988929	GRCh37/hg19 15q21.1-21.3(chr15:48744917-53851050)x1	AP4E1, ARPP19 +35 more	Copy number loss	not provided	GPathogenic
Select item 815710	GRCh37/hg19 15q21.1-21.2(chr15:47192561-50819726)x1	ATP8B4, CEP152 +20 more	Copy number loss	not provided	GPathogenic
Select item 688584	GRCh37/hg19 15q21.1-21.3(chr15:49031132-56740397)x3	AP4E1, ARPP19 +47 more	Copy number gain	not provided	GPathogenic
Select item 687424	GRCh37/hg19 15q21.2-21.3(chr15:50083229-53439931)x1	AP4E1, ARPP19 +24 more	Copy number loss	not provided	GUncertain significance
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic

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Items: 69