ClinVar for Gene (Select 9046) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273451	NM_003974.4(DOK2):c.478G>A (p.Ala160Thr)	DOK2 (A6T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273450	NM_003974.4(DOK2):c.778A>G (p.Ile260Val)	DOK2 (I166V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3273449	NM_003974.4(DOK2):c.1115C>T (p.Ala372Val)	DOK2 (A372V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273448	NM_003974.4(DOK2):c.194G>C (p.Cys65Ser)	DOK2 (C65S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3273447	NM_003974.4(DOK2):c.89T>A (p.Leu30Gln)	DOK2 (L30Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085173	NM_003974.4(DOK2):c.909C>G (p.Phe303Leu)	DOK2 (F149L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085172	NM_003974.4(DOK2):c.836C>T (p.Pro279Leu)	DOK2 (P279L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085170	NM_003974.4(DOK2):c.782C>T (p.Pro261Leu)	DOK2 (P167L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085169	NM_003974.4(DOK2):c.631T>G (p.Phe211Val)	DOK2 (F117V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085168	NM_003974.4(DOK2):c.196C>G (p.Leu66Val)	DOK2 (L66V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085167	NM_003974.4(DOK2):c.1183G>A (p.Gly395Ser)	DOK2 (G301S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085166	NM_003974.4(DOK2):c.1168G>T (p.Asp390Tyr)	DOK2 (D296Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085165	NM_003974.4(DOK2):c.109G>A (p.Ala37Thr)	DOK2 (A37T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085164	NM_003974.4(DOK2):c.1045G>A (p.Glu349Lys)	DOK2 (E255K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085163	NM_003974.4(DOK2):c.1034A>G (p.Tyr345Cys)	DOK2 (Y191C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085162	NM_003974.4(DOK2):c.1016C>G (p.Pro339Arg)	DOK2 (P245R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2672279	NM_003974.4(DOK2):c.518G>A (p.Arg173Gln)	DOK2 (R173Q +2 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2671605	Single allele	BIN3, BMP1 +24 more	Duplication	not provided	GUncertain significance
Select item 2623842	NM_003974.4(DOK2):c.1106G>A (p.Arg369Lys)	DOK2 (R215K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620322	NM_003974.4(DOK2):c.394T>C (p.Cys132Arg)	DOK2 (C38R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607220	NM_003974.4(DOK2):c.793C>T (p.Pro265Ser)	DOK2 (P111S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606229	NM_003974.4(DOK2):c.611G>C (p.Arg204Pro)	DOK2 (R110P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599454	NM_003974.4(DOK2):c.788C>T (p.Ser263Leu)	DOK2 (S169L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589481	NM_003974.4(DOK2):c.302A>T (p.Glu101Val)	DOK2 (E101V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2568525	NM_003974.4(DOK2):c.388C>T (p.Arg130Trp)	DOK2 (R130W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551653	NM_003974.4(DOK2):c.626T>C (p.Phe209Ser)	DOK2 (F115S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464017	NM_003974.4(DOK2):c.830C>T (p.Ser277Leu)	DOK2 (S183L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457422	NM_003974.4(DOK2):c.764C>T (p.Pro255Leu)	DOK2 (P161L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404784	NM_003974.4(DOK2):c.77T>G (p.Phe26Cys)	DOK2 (F26C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2404783	NM_003974.4(DOK2):c.1040A>G (p.Glu347Gly)	DOK2 (E253G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399766	NM_003974.4(DOK2):c.818G>A (p.Arg273Gln)	DOK2 (R119Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382244	NM_003974.4(DOK2):c.967C>G (p.Gln323Glu)	DOK2 (Q169E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372897	NM_003974.4(DOK2):c.806G>T (p.Ser269Ile)	DOK2 (S175I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370401	NM_003974.4(DOK2):c.503G>A (p.Gly168Glu)	DOK2 (G168E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368966	NM_003974.4(DOK2):c.1066C>T (p.Leu356Phe)	DOK2 (L202F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363127	NM_003974.4(DOK2):c.188G>C (p.Ser63Thr)	DOK2 (S63T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2361698	NM_003974.4(DOK2):c.1175C>G (p.Ser392Cys)	DOK2 (S392C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325639	NM_003974.4(DOK2):c.817C>T (p.Arg273Trp)	DOK2 (R273W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316735	NM_003974.4(DOK2):c.710C>T (p.Ala237Val)	DOK2 (A83V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308344	NM_003974.4(DOK2):c.109G>T (p.Ala37Ser)	DOK2 (A37S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2284998	NM_003974.4(DOK2):c.868C>A (p.Pro290Thr)	DOK2 (P290T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265786	NM_003974.4(DOK2):c.169C>T (p.Arg57Trp)	DOK2 (R57W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2212671	NM_003974.4(DOK2):c.824A>G (p.His275Arg)	DOK2 (H181R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527423	GRCh37/hg19 8p21.3(chr8:21303187-22230498)	BMP1, DMTN +16 more	Copy number gain	not specified	GUncertain significance
Select item 1341975	GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4	PIWIL2, STC1 +55 more	Copy number gain	not provided	GPathogenic
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 980298	GRCh37/hg19 8p21.3(chr8:21421396-21843562)x3	XPO7, GFRA2 +1 more	Copy number gain	not provided	GLikely benign
Select item 771423	NM_003974.4(DOK2):c.1180T>G (p.Ser394Ala)	DOK2 (S240A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688470	GRCh37/hg19 8p21.3-21.2(chr8:21662847-24199218)x1	ADAM28, BIN3 +37 more	Copy number loss	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 686571	GRCh37/hg19 8p21.3(chr8:20564910-22629124)x3	BIN3, BMP1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 685557	GRCh37/hg19 8p21.3(chr8:21077580-22144930)x1	BMP1, DMTN +15 more	Copy number loss	not provided	GUncertain significance
Select item 685405	GRCh37/hg19 8p21.3(chr8:21717395-22395625)x3	BMP1, DMTN +16 more	Copy number gain	not provided	GUncertain significance
Select item 626288	Single allele	ADAM28, ADAM7 +124 more	Duplication	not provided	GLikely pathogenic
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic
Select item 563554	GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	ADAM28, ADAM7 +124 more	Copy number gain	not provided	GPathogenic
Select item 563553	GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	ADAM28, ADAM7 +136 more	Copy number gain	not provided	GPathogenic
Select item 563552	GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	DLC1, DMTN +111 more	Copy number gain	not provided	GPathogenic
Select item 523288	GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)	CSGALNACT1, SFTPC +77 more	Copy number gain	Autism +7 more	GPathogenic
Select item 443715	GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	ASAH1-AS1, ATP6V1B2 +129 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM18, ADAM2 +186 more	Copy number gain	See cases	GPathogenic
Select item 442982	GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3	ADAM28, ADAM7 +123 more	Copy number gain	See cases	GPathogenic
Select item 442330	GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	ADAM18, ADAM28 +151 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 442157	GRCh37/hg19 8p21.3(chr8:21521340-22492009)x4	BIN3, BMP1 +22 more	Copy number gain	See cases	GUncertain significance
Select item 441074	GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1	LEPROTL1, LGI3 +109 more	Copy number loss	not provided	Gnot provided
Select item 395720	GRCh37/hg19 8p22-21.2(chr8:13091530-24483615)	ADAM28, ADAM7 +68 more	Copy number loss	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 394647	GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 253392	GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3	ADAM28, ADAM7 +82 more	Copy number gain	See cases	GPathogenic
Select item 219026	GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3	ADAM28, EXTL3 +73 more	Copy number gain	See cases	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC132089588, LOC132089589 +510 more	Copy number loss	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic

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