2683[HGNC] - ClinVar

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Items: 50

	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 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 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 3080139	NM_018959.4(DAZAP1):c.8A>G (p.Asn3Ser)	DAZAP1 (N3S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545395	NM_018959.4(DAZAP1):c.101G>C (p.Gly34Ala)	DAZAP1 (G34A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319759	NM_018959.4(DAZAP1):c.109G>A (p.Val37Ile)	DAZAP1 (V37I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080133	NM_018959.4(DAZAP1):c.262C>T (p.Arg88Trp)	DAZAP1 (R88W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080134	NM_018959.4(DAZAP1):c.275C>T (p.Pro92Leu)	DAZAP1 (P92L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270907	NM_018959.4(DAZAP1):c.286C>T (p.Arg96Trp)	DAZAP1 (R96W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080135	NM_018959.4(DAZAP1):c.299G>C (p.Gly100Ala)	DAZAP1 (G100A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080136	NM_018959.4(DAZAP1):c.424G>T (p.Val142Leu)	DAZAP1 (V141L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080137	NM_018959.4(DAZAP1):c.593C>T (p.Pro198Leu)	DAZAP1 (P197L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349518	NM_018959.4(DAZAP1):c.640G>A (p.Ala214Thr)	DAZAP1 (A214T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080138	NM_018959.4(DAZAP1):c.752C>G (p.Ala251Gly)	DAZAP1 (A250G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768947	NM_018959.4(DAZAP1):c.813T>C (p.Pro271=)	DAZAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3270908	NM_018959.4(DAZAP1):c.826C>G (p.Pro276Ala)	DAZAP1 (P275A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463301	NM_018959.4(DAZAP1):c.853G>A (p.Gly285Ser)	DAZAP1 (G112S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552034	NM_018959.4(DAZAP1):c.992C>T (p.Ala331Val)	DAZAP1 (A158V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270909	NM_018959.4(DAZAP1):c.1000A>G (p.Met334Val)	DAZAP1 (M161V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224748	NM_018959.4(DAZAP1):c.1141T>C (p.Ser381Pro)	DAZAP1 (S381P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270906	NM_018959.4(DAZAP1):c.1162G>A (p.Gly388Ser)	DAZAP1 (G387S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 222962	NM_018959.4(DAZAP1):c.1213T>C (p.Tyr405His)	DAZAP1 (Y405H +2 more)	Single nucleotide variant (missense variant +1 more)	Monoclonal B-Cell Lymphocytosis	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 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 2422486	NC_000019.9:g.(?_1206913)_(1650247_?)del	ADAMTSL5, APC2 +20 more	Deletion	Cerebral creatine deficiency syndrome	GPathogenic
Select item 1808976	GRCh37/hg19 19p13.3(chr19:1356893-1676446)x1	ADAMTSL5, APC2 +13 more	Copy number loss	not provided	GUncertain significance
Select item 1807799	GRCh37/hg19 19p13.3(chr19:1205244-1479188)x1	APC2, ATP5F1D +12 more	Copy number loss	not provided	GPathogenic
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
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 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 685369	GRCh37/hg19 19p13.3(chr19:1342624-1817866)x3	ADAMTSL5, APC2 +17 more	Copy number gain	not provided	GUncertain significance
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 564597	GRCh37/hg19 19p13.3(chr19:715724-1438636)x3	ABCA7, ARHGAP45 +31 more	Copy number gain	not provided	GUncertain significance
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 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic

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Items: 50