28756[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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 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 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 2329938	NM_001130111.2(ABHD17A):c.884A>G (p.Glu295Gly)	ABHD17A (E346G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321546	NM_001130111.2(ABHD17A):c.869A>G (p.Tyr290Cys)	ABHD17A (Y290C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130815	NM_001130111.2(ABHD17A):c.817G>A (p.Ala273Thr)	ABHD17A (A273T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384843	NM_001130111.2(ABHD17A):c.802G>C (p.Glu268Gln)	ABHD17A (E268Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130813	NM_001130111.2(ABHD17A):c.604C>G (p.Arg202Gly)	ABHD17A (R202G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130810	NM_001130111.2(ABHD17A):c.567G>C (p.Gln189His)	ABHD17A (Q189H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130806	NM_001130111.2(ABHD17A):c.530A>G (p.Tyr177Cys)	ABHD17A (Y177C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321457	NM_001130111.2(ABHD17A):c.521G>A (p.Arg174His)	ABHD17A (R225H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521898	NM_001130111.2(ABHD17A):c.502G>A (p.Ala168Thr)	ABHD17A (A168T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321350	NM_001130111.2(ABHD17A):c.461C>T (p.Ser154Leu)	ABHD17A (S154L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130801	NM_001130111.2(ABHD17A):c.410G>A (p.Arg137His)	ABHD17A (R137H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130799	NM_001130111.2(ABHD17A):c.394A>G (p.Ile132Val)	ABHD17A (I183V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2476436	NM_001130111.2(ABHD17A):c.385A>G (p.Ser129Gly)	ABHD17A (S180G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492550	NM_001130111.2(ABHD17A):c.371T>C (p.Leu124Pro)	ABHD17A (L124P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491537	NM_001130111.2(ABHD17A):c.332+289C>A	ABHD17A (S145R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2349097	NM_001130111.2(ABHD17A):c.332+261C>T	ABHD17A (A136V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130786	NM_001130111.2(ABHD17A):c.332+244C>T	ABHD17A	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2242650	NM_001130111.2(ABHD17A):c.332+239C>G	ABHD17A (L129V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220068	NM_001130111.2(ABHD17A):c.332+230G>A	ABHD17A (V126M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130778	NM_001130111.2(ABHD17A):c.241C>G (p.Arg81Gly)	ABHD17A (R81G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130774	NM_001130111.2(ABHD17A):c.134C>T (p.Pro45Leu)	ABHD17A (P45L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130767	NM_001130111.2(ABHD17A):c.100A>C (p.Thr34Pro)	ABHD17A (T34P)	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 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 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 56