2455[HGNC] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 60066	GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	LOC130062906, LOC130062907 +222 more	Copy number loss	See cases	GPathogenic
Select item 147726	GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3	ABHD17A, ADAMTSL5 +219 more	Copy number gain	See cases	GUncertain significance
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 60069	GRCh38/hg38 19p13.3(chr19:1727562-2306496)x1	ABHD17A, ADAT3 +108 more	Copy number loss	See cases	GPathogenic
Select item 151486	GRCh38/hg38 19p13.3(chr19:1911810-1952591)x3	ADAT3, CSNK1G2 +8 more	Copy number gain	See cases	GBenign
Select item 2283839	NM_001319.7(CSNK1G2):c.70G>A (p.Gly24Ser)	CSNK1G2 (G24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507719	NM_001319.7(CSNK1G2):c.85G>A (p.Gly29Ser)	CSNK1G2 (G29S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2345791	NM_001319.7(CSNK1G2):c.98C>T (p.Ser33Leu)	CSNK1G2 (S33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 3269887	NM_001319.7(CSNK1G2):c.403C>G (p.Arg135Gly)	CSNK1G2 (R135G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610391	NM_001319.7(CSNK1G2):c.523C>T (p.Arg175Cys)	CSNK1G2 (R175C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311039	NM_001319.7(CSNK1G2):c.604A>C (p.Lys202Gln)	CSNK1G2 (K202Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240231	NM_001319.7(CSNK1G2):c.694C>T (p.Arg232Cys)	CSNK1G2 (R232C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333657	NM_001319.7(CSNK1G2):c.709G>T (p.Ala237Ser)	CSNK1G2 (A237S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078286	NM_001319.7(CSNK1G2):c.739C>T (p.Arg247Cys)	CSNK1G2 (R247C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358171	NM_001319.7(CSNK1G2):c.746G>A (p.Ser249Asn)	CSNK1G2 (S249N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648953	NM_001319.7(CSNK1G2):c.777G>A (p.Thr259=)	CSNK1G2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2516501	NM_001319.7(CSNK1G2):c.814C>T (p.Arg272Cys)	CSNK1G2 (R272C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269888	NM_001319.7(CSNK1G2):c.821C>T (p.Thr274Met)	CSNK1G2 (T274M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078287	NM_001319.7(CSNK1G2):c.949G>C (p.Asp317His)	CSNK1G2 (D317H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269886	NM_001319.7(CSNK1G2):c.1051C>T (p.Leu351Phe)	CSNK1G2 (L351F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302302	NM_001319.7(CSNK1G2):c.1105G>T (p.Gly369Trp)	CSNK1G2 (G369W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234081	NM_001319.7(CSNK1G2):c.1118C>T (p.Ala373Val)	CSNK1G2 (A373V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269885	NM_001319.7(CSNK1G2):c.1238G>A (p.Arg413Gln)	CSNK1G2 (R413Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062395	GRCh37/hg19 19p13.3(chr19:1648089-2302433)x3	LINGO3, MIR1909 +21 more	Copy number gain	not specified	GUncertain significance
Select item 3062376	GRCh37/hg19 19p13.3(chr19:1773489-2186237)x3	ABHD17A, ADAT3 +13 more	Copy number gain	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	ABHD17A, ADAMTSL5 +80 more	Duplication	not provided	GUncertain significance
Select item 2427064	NC_000019.9:g.(?_1456055)_(2456931_?)dup	C19orf25, CSNK1G2 +35 more	Duplication	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	ABCA7, ABHD17A +61 more	Duplication	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
Select item 1341199	GRCh37/hg19 19p13.3(chr19:1973753-2380699)x3	AMH, AP3D1 +14 more	Copy number gain	not provided	GUncertain significance
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816060	GRCh37/hg19 19p13.3(chr19:1075192-2256387)x3	MKNK2, MOB3A +43 more	Copy number gain	not provided	GLikely pathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ADAMTSL5, PLEKHJ1 +106 more	Copy number gain	not provided	GPathogenic
Select item 689194	GRCh37/hg19 19p13.3(chr19:1816218-2152190)x3	ABHD17A, ADAT3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 686628	GRCh37/hg19 19p13.3(chr19:1772993-1990715)x1	ABHD17A, ADAT3 +8 more	Copy number loss	not provided	GUncertain significance
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 635917	NC_000019.9:g.1406030_3597207dup	AP3D1, SPPL2B +64 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	NDUFS7, OAZ1 +100 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442900	GRCh37/hg19 19p13.3(chr19:260911-1965786)x3	ABCA7, ABHD17A +67 more	Copy number gain	See cases	GLikely pathogenic
Select item 394313	GRCh37/hg19 19p13.3(chr19:1952590-2050814)x1	MKNK2, BTBD2 +1 more	Copy number loss	See cases	GBenign
Select item 253917	GRCh37/hg19 19p13.3(chr19:1952590-2698712)x3	GADD45B, BTBD2 +19 more	Copy number gain	See cases	GUncertain significance
Select item 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic

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Items: 56