10953[HGNC] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	LOC125387319, LOC125387320 +1024 more	Copy number gain	See cases	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	ABHD16B, ADRM1 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	ABHD16B, ADRM1 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066376, LOC130066377 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	LOC132090595, LOC132090596 +355 more	Copy number gain	See cases	GPathogenic
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 1707464	Single allele	ADRM1, ARFGAP1 +198 more	Duplication	not specified	GUncertain significance
Select item 58974	GRCh38/hg38 20q13.33(chr20:62455231-63839491)x1	MRGBP, NKAIN4 +183 more	Copy number loss	See cases	GPathogenic
Select item 58975	GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1	ABHD16B, ARFGAP1 +249 more	Copy number loss	See cases	GPathogenic
Select item 144360	GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1	ABHD16B, ARFGAP1 +248 more	Copy number loss	See cases	GPathogenic
Select item 153305	GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1	LOC130066340, LOC130066341 +244 more	Copy number loss	See cases	GPathogenic
Select item 2579288	GRCh38/hg38 20q13.33(chr20:62632017-63794804)x1	ARFGAP1, ARFRP1 +165 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2517973	NM_016354.4(SLCO4A1):c.8T>A (p.Leu3Gln)	SLCO4A1 (L3Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2263920	NM_016354.4(SLCO4A1):c.31C>T (p.Leu11Phe)	SLCO4A1 (L11F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207178	NM_016354.4(SLCO4A1):c.250G>A (p.Val84Met)	SLCO4A1 (V84M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479991	NM_016354.4(SLCO4A1):c.337G>A (p.Ala113Thr)	SLCO4A1 (A113T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476154	NM_016354.4(SLCO4A1):c.398G>A (p.Arg133His)	SLCO4A1 (R133H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490621	NM_016354.4(SLCO4A1):c.439A>G (p.Ser147Gly)	SLCO4A1 (S147G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343000	NM_016354.4(SLCO4A1):c.578C>T (p.Thr193Met)	SLCO4A1 (T193M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316591	NM_016354.4(SLCO4A1):c.580G>A (p.Ala194Thr)	SLCO4A1 (A194T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541922	NM_016354.4(SLCO4A1):c.637G>A (p.Gly213Ser)	SLCO4A1 (G213S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2214128	NM_016354.4(SLCO4A1):c.640G>A (p.Ala214Thr)	SLCO4A1 (A214T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288133	NM_016354.4(SLCO4A1):c.715G>T (p.Val239Leu)	SLCO4A1 (V239L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325613	NM_016354.4(SLCO4A1):c.721G>A (p.Ala241Thr)	SLCO4A1 (A241T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252502	NM_016354.4(SLCO4A1):c.785C>T (p.Pro262Leu)	SLCO4A1 (P262L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292460	NM_016354.4(SLCO4A1):c.812C>A (p.Ala271Glu)	SLCO4A1 (A271E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346917	NM_016354.4(SLCO4A1):c.853G>A (p.Ala285Thr)	SLCO4A1 (A285T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515334	NM_016354.4(SLCO4A1):c.884G>A (p.Arg295Gln)	SLCO4A1 (R295Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2279182	NM_016354.4(SLCO4A1):c.890C>G (p.Thr297Arg)	SLCO4A1 (T297R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218212	NM_016354.4(SLCO4A1):c.958G>A (p.Ala320Thr)	SLCO4A1 (A320T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387219	NM_016354.4(SLCO4A1):c.997C>T (p.Arg333Trp)	SLCO4A1 (R333W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262814	NM_016354.4(SLCO4A1):c.1013C>T (p.Ser338Phe)	SLCO4A1 (S338F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465915	NM_016354.4(SLCO4A1):c.1037C>T (p.Ala346Val)	SLCO4A1 (A346V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 153207	GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1	ABHD16B, ARFGAP1 +230 more	Copy number loss	See cases	GPathogenic
Select item 2479003	NM_016354.4(SLCO4A1):c.1139T>C (p.Leu380Pro)	SLCO4A1, SLCO4A1-AS1 (L380P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2615652	NM_016354.4(SLCO4A1):c.1295C>T (p.Ala432Val)	SLCO4A1, SLCO4A1-AS1 (A432V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467664	NM_016354.4(SLCO4A1):c.1349G>A (p.Arg450Gln)	SLCO4A1, SLCO4A1-AS1 (R450Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518903	NM_016354.4(SLCO4A1):c.1358C>T (p.Ala453Val)	SLCO4A1, SLCO4A1-AS1 (A453V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592469	NM_016354.4(SLCO4A1):c.1450G>A (p.Val484Ile)	SLCO4A1, SLCO4A1-AS1 (V484I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546171	NM_016354.4(SLCO4A1):c.1468G>A (p.Gly490Arg)	SLCO4A1, SLCO4A1-AS1 (G490R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2257122	NM_016354.4(SLCO4A1):c.1483G>A (p.Glu495Lys)	SLCO4A1 (E495K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257019	NM_016354.4(SLCO4A1):c.1486G>A (p.Gly496Ser)	SLCO4A1 (G496S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299196	NM_016354.4(SLCO4A1):c.1510T>C (p.Cys504Arg)	SLCO4A1 (C504R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608370	NM_016354.4(SLCO4A1):c.1516G>A (p.Ala506Thr)	SLCO4A1 (A506T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2552953	NM_016354.4(SLCO4A1):c.1552G>T (p.Val518Leu)	SLCO4A1 (V518L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539762	NM_016354.4(SLCO4A1):c.1577A>G (p.Tyr526Cys)	SLCO4A1 (Y526C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472758	NM_016354.4(SLCO4A1):c.1594G>T (p.Ala532Ser)	SLCO4A1 (A532S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257224	NM_016354.4(SLCO4A1):c.1652G>A (p.Cys551Tyr)	SLCO4A1 (C551Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266762	NM_016354.4(SLCO4A1):c.1675T>C (p.Ser559Pro)	SLCO4A1 (S559P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482809	NM_016354.4(SLCO4A1):c.1792G>A (p.Ala598Thr)	SLCO4A1 (A598T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546318	NM_016354.4(SLCO4A1):c.1826C>T (p.Pro609Leu)	SLCO4A1 (P609L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610601	NM_016354.4(SLCO4A1):c.1999A>G (p.Ile667Val)	SLCO4A1 (I667V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298013	NM_016354.4(SLCO4A1):c.2038C>T (p.Leu680Phe)	SLCO4A1 (L680F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313631	NM_016354.4(SLCO4A1):c.2054C>A (p.Ala685Asp)	SLCO4A1 (A685D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2424333	NC_000020.10:g.(?_60831241)_(62680869_?)dup	SLC17A9, TNFRSF6B +50 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1808258	GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3	ABHD16B, ADRM1 +63 more	Copy number gain	not provided	GUncertain significance
Select item 1526698	GRCh37/hg19 20q13.33(chr20:61003263-62915555)	ABHD16B, ARFGAP1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1526695	GRCh37/hg19 20q13.33(chr20:60473339-62915555)	OGFR, OPRL1 +64 more	Copy number gain	not specified	GUncertain significance
Select item 1526694	GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	LAMA5, LIME1 +88 more	Copy number gain	not specified	GPathogenic
Select item 1326336	GRCh37/hg19 20q13.33(chr20:61038552-62907579)	SLC17A9, ZGPAT +51 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1326335	GRCh37/hg19 20q13.33(chr20:61273854-62907579)	HAR1A, HAR1B +47 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1326334	GRCh37/hg19 20q13.33(chr20:61041481-62680992)	CHRNA4, ABHD16B +44 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 999459	NC_000020.10:g.(?_60831241)_(62664346_?)dup	RTEL1, SAMD10 +49 more	Duplication	Developmental and epileptic encephalopathy, 33 +1 more	GUncertain significance
Select item 816137	GRCh37/hg19 20q13.33(chr20:61152321-62915555)x1	ABHD16B, ARFGAP1 +49 more	Copy number loss	not provided	GPathogenic
Select item 816136	GRCh37/hg19 20q13.33(chr20:61152321-61282520)x1	SLCO4A1, MIR1-1HG +1 more	Copy number loss	not provided	GLikely benign
Select item 816132	GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3	BHLHE23, ZGPAT +87 more	Copy number gain	not provided	GPathogenic
Select item 816131	GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3	CDH4, CHRNA4 +68 more	Copy number gain	not provided	GPathogenic
Select item 687280	GRCh37/hg19 20q13.33(chr20:60946209-61975606)x3	ARFGAP1, BHLHE23 +23 more	Copy number gain	not provided	GUncertain significance
Select item 685218	GRCh37/hg19 20q13.33(chr20:61033338-61412941)x3	GATA5, MIR1-1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 625661	GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	ADRM1, ANKRD60 +86 more	Copy number gain	not provided	GPathogenic
Select item 564633	GRCh37/hg19 20q13.33(chr20:61022397-61738592)x1	SLC17A9, OGFR +14 more	Copy number loss	not provided	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	KIF3B, KIZ +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic
Select item 221406	GRCh37/hg19 20q13.33(chr20:60882468-62045494)x1	ADRM1, ARFGAP1 +26 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221355	chr20:60885242-61929348 complex variant	ARFGAP1, BHLHE23 +23 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 79