30884[HGNC] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 2212559	NM_001288732.2(TEX2):c.3352G>T (p.Asp1118Tyr)	TEX2 (D1118Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325556	NM_001288732.2(TEX2):c.3329G>A (p.Arg1110His)	TEX2 (R1117H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621249	NM_001288732.2(TEX2):c.3271G>A (p.Val1091Ile)	TEX2 (V1098I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325555	NM_001288732.2(TEX2):c.3218A>T (p.His1073Leu)	TEX2 (H1080L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176371	NM_001288732.2(TEX2):c.3218A>C (p.His1073Pro)	TEX2 (H1073P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176370	NM_001288732.2(TEX2):c.3118C>T (p.Pro1040Ser)	TEX2 (P1040S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526946	NM_001288732.2(TEX2):c.2923G>C (p.Ala975Pro)	TEX2 (A975P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325558	NM_001288732.2(TEX2):c.2791A>G (p.Ile931Val)	TEX2 (I938V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278481	NM_001288732.2(TEX2):c.2732A>G (p.Lys911Arg)	TEX2 (K918R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176368	NM_001288732.2(TEX2):c.2683G>A (p.Asp895Asn)	TEX2 (D902N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176367	NM_001288732.2(TEX2):c.2608C>A (p.Leu870Ile)	TEX2 (L877I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325554	NM_001288732.2(TEX2):c.2596A>G (p.Thr866Ala)	TEX2 (T866A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249975	NM_001288732.2(TEX2):c.2486G>C (p.Gly829Ala)	TEX2 (G829A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176365	NM_001288732.2(TEX2):c.2407C>T (p.Pro803Ser)	TEX2 (P810S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176364	NM_001288732.2(TEX2):c.2332G>A (p.Val778Met)	TEX2 (V778M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516778	NM_001288732.2(TEX2):c.2325C>G (p.Asp775Glu)	TEX2 (D782E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325553	NM_001288732.2(TEX2):c.2233C>T (p.Arg745Cys)	TEX2 (R752C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176363	NM_001288732.2(TEX2):c.2225C>T (p.Thr742Ile)	TEX2 (T749I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176362	NM_001288732.2(TEX2):c.2215G>A (p.Gly739Arg)	TEX2 (G746R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176361	NM_001288732.2(TEX2):c.2210C>T (p.Pro737Leu)	TEX2 (P737L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507639	NM_001288732.2(TEX2):c.2135C>T (p.Ser712Leu)	TEX2 (S712L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176360	NM_001288732.2(TEX2):c.2120C>A (p.Ala707Glu)	TEX2 (A707E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176359	NM_001288732.2(TEX2):c.2035A>G (p.Arg679Gly)	TEX2 (R679G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176358	NM_001288732.2(TEX2):c.2018G>A (p.Arg673His)	TEX2 (R673H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2314475	NM_001288732.2(TEX2):c.1984G>A (p.Ala662Thr)	TEX2 (A662T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615476	NM_001288732.2(TEX2):c.1907G>T (p.Cys636Phe)	TEX2 (C636F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302411	NM_001288732.2(TEX2):c.1874G>A (p.Arg625Gln)	TEX2 (R625Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176357	NM_001288732.2(TEX2):c.1823T>C (p.Ile608Thr)	TEX2 (I608T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261483	NM_001288732.2(TEX2):c.1789C>T (p.Pro597Ser)	TEX2 (P597S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325559	NM_001288732.2(TEX2):c.1770G>C (p.Arg590Ser)	TEX2 (R590S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317607	NM_001288732.2(TEX2):c.1595G>A (p.Arg532Gln)	TEX2 (R532Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2526443	NM_001288732.2(TEX2):c.1488T>G (p.Ser496Arg)	TEX2 (S496R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243526	NM_001288732.2(TEX2):c.1471C>G (p.Leu491Val)	TEX2 (L491V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241898	NM_001288732.2(TEX2):c.1438A>G (p.Ile480Val)	TEX2 (I480V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325557	NM_001288732.2(TEX2):c.1417G>A (p.Val473Met)	TEX2 (V473M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299948	NM_001288732.2(TEX2):c.1396G>A (p.Val466Met)	TEX2 (V466M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318139	NM_001288732.2(TEX2):c.1348G>A (p.Ala450Thr)	TEX2 (A450T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476738	NM_001288732.2(TEX2):c.1330C>G (p.Leu444Val)	TEX2 (L444V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176356	NM_001288732.2(TEX2):c.1302T>A (p.Ser434Arg)	TEX2 (S434R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176355	NM_001288732.2(TEX2):c.1289C>T (p.Thr430Met)	TEX2 (T430M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3176354	NM_001288732.2(TEX2):c.1279G>T (p.Asp427Tyr)	TEX2 (D427Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325561	NM_001288732.2(TEX2):c.1278C>A (p.Phe426Leu)	TEX2 (F426L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465490	NM_001288732.2(TEX2):c.1256G>T (p.Cys419Phe)	TEX2 (C419F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345104	NM_001288732.2(TEX2):c.1139T>C (p.Ile380Thr)	TEX2 (I380T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325560	NM_001288732.2(TEX2):c.1109C>T (p.Pro370Leu)	TEX2 (P370L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537858	NM_001288732.2(TEX2):c.1092C>G (p.Ile364Met)	TEX2 (I364M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611249	NM_001288732.2(TEX2):c.1078A>G (p.Ser360Gly)	TEX2 (S360G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262268	NM_001288732.2(TEX2):c.1034G>C (p.Ser345Thr)	TEX2 (S345T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257063	NM_001288732.2(TEX2):c.940G>A (p.Gly314Ser)	TEX2 (G314S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306810	NM_001288732.2(TEX2):c.889G>A (p.Val297Ile)	TEX2 (V297I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508660	NM_001288732.2(TEX2):c.846A>C (p.Glu282Asp)	TEX2 (E282D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537859	NM_001288732.2(TEX2):c.757C>G (p.Pro253Ala)	TEX2 (P253A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492269	NM_001288732.2(TEX2):c.634C>T (p.His212Tyr)	TEX2 (H212Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327879	NM_001288732.2(TEX2):c.622G>A (p.Ala208Thr)	TEX2 (A208T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620946	NM_001288732.2(TEX2):c.514A>G (p.Ile172Val)	TEX2 (I172V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2543298	NM_001288732.2(TEX2):c.497C>G (p.Ser166Cys)	TEX2 (S166C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325562	NM_001288732.2(TEX2):c.440C>T (p.Ser147Phe)	TEX2 (S147F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517452	NM_001288732.2(TEX2):c.415T>A (p.Ser139Thr)	TEX2 (S139T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313570	NM_001288732.2(TEX2):c.394T>A (p.Leu132Met)	TEX2 (L132M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176373	NM_001288732.2(TEX2):c.364C>G (p.Pro122Ala)	TEX2 (P122A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236394	NM_001288732.2(TEX2):c.337A>C (p.Thr113Pro)	TEX2 (T113P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488076	NM_001288732.2(TEX2):c.296C>T (p.Ser99Phe)	TEX2 (S99F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176369	NM_001288732.2(TEX2):c.272C>T (p.Ser91Leu)	TEX2 (S91L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291916	NM_001288732.2(TEX2):c.256G>A (p.Ala86Thr)	TEX2 (A86T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2510313	NM_001288732.2(TEX2):c.127G>A (p.Glu43Lys)	TEX2 (E43K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456497	NM_001288732.2(TEX2):c.46C>T (p.Pro16Ser)	TEX2 (P16S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508909	NM_001288732.2(TEX2):c.43A>G (p.Met15Val)	TEX2 (M15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148898	GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3	ACE, APPBP2 +43 more	Copy number gain	See cases	GUncertain significance
Select item 1808405	GRCh37/hg19 17q23.3(chr17:61838634-62465444)x4	CCDC47, CD79B +16 more	Copy number gain	not provided	GUncertain significance
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 477396	NC_000017.10:g.(?_62018111)_(62987152_?)dup	DDX5, ERN1 +10 more	Duplication	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 58702	GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3	ACE, APOH +48 more	Copy number gain	See cases	GPathogenic

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Items: 78