NKX1-2[gene] - ClinVar

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Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	LOC130004881, LOC130004882 +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC130004911, LOC130004912 +395 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
Select item 58820	GRCh38/hg38 10q26.13-26.2(chr10:122826743-126730948)x1	ABRAXAS2, ACADSB +164 more	Copy number loss	See cases	GPathogenic
Select item 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	LOC130004994, LOC130004995 +361 more	Copy number loss	See cases	GPathogenic
Select item 58821	GRCh38/hg38 10q26.13-26.2(chr10:122973296-128210291)x1	ABRAXAS2, ACADSB +182 more	Copy number loss	See cases	GPathogenic
Select item 57447	GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1	ABRAXAS2, ADAM12 +331 more	Copy number loss	See cases	GPathogenic
Select item 155477	GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 58822	GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 155556	GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1	ABRAXAS2, ADAM12 +311 more	Copy number loss	See cases	GPathogenic
Select item 147735	GRCh38/hg38 10q26.13-26.2(chr10:124032888-127368827)x3	ABRAXAS2, ADAM12 +117 more	Copy number gain	See cases	GPathogenic
Select item 3299905	NM_001146340.3(NKX1-2):c.922C>G (p.Pro308Ala)	NKX1-2 (P308A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200346	NM_001146340.3(NKX1-2):c.920C>A (p.Ala307Asp)	NKX1-2 (A307D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266693	NM_001146340.3(NKX1-2):c.890T>C (p.Leu297Pro)	NKX1-2 (L297P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352758	NM_001146340.3(NKX1-2):c.830C>T (p.Pro277Leu)	NKX1-2 (P277L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200345	NM_001146340.3(NKX1-2):c.809C>T (p.Ser270Phe)	NKX1-2 (S270F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454185	NM_001146340.3(NKX1-2):c.746C>T (p.Ser249Leu)	NKX1-2 (S249L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299902	NM_001146340.3(NKX1-2):c.740G>A (p.Gly247Asp)	NKX1-2 (G247D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299903	NM_001146340.3(NKX1-2):c.721G>C (p.Ala241Pro)	NKX1-2 (A241P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2315385	NM_001146340.3(NKX1-2):c.721G>T (p.Ala241Ser)	NKX1-2 (A241S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541082	NM_001146340.3(NKX1-2):c.694G>A (p.Gly232Arg)	NKX1-2 (G232R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259748	NM_001146340.3(NKX1-2):c.686C>T (p.Ala229Val)	NKX1-2 (A229V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204037	NM_001146340.3(NKX1-2):c.645G>C (p.Arg215Ser)	NKX1-2 (R215S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200344	NM_001146340.3(NKX1-2):c.584A>G (p.Asn195Ser)	NKX1-2 (N195S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299904	NM_001146340.3(NKX1-2):c.577C>A (p.Arg193Ser)	NKX1-2 (R193S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337714	NM_001146340.3(NKX1-2):c.577C>T (p.Arg193Cys)	NKX1-2 (R193C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619879	NM_001146340.3(NKX1-2):c.512C>T (p.Thr171Ile)	NKX1-2 (T171I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546862	NM_001146340.3(NKX1-2):c.481G>A (p.Ala161Thr)	NKX1-2 (A161T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200343	NM_001146340.3(NKX1-2):c.476A>G (p.Asn159Ser)	NKX1-2 (N159S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2400925	NM_001146340.3(NKX1-2):c.475A>G (p.Asn159Asp)	NKX1-2 (N159D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248246	NM_001146340.3(NKX1-2):c.421T>C (p.Ser141Pro)	NKX1-2 (S141P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245564	NM_001146340.3(NKX1-2):c.421T>G (p.Ser141Ala)	NKX1-2 (S141A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340285	NM_001146340.3(NKX1-2):c.382G>A (p.Gly128Arg)	NKX1-2 (G128R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241740	NM_001146340.3(NKX1-2):c.362C>G (p.Pro121Arg)	NKX1-2 (P121R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2325749	NM_001146340.3(NKX1-2):c.352C>T (p.Pro118Ser)	NKX1-2 (P118S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341240	NM_001146340.3(NKX1-2):c.317G>C (p.Arg106Pro)	NKX1-2 (R106P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339324	NM_001146340.3(NKX1-2):c.317G>T (p.Arg106Leu)	NKX1-2 (R106L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594218	NM_001146340.3(NKX1-2):c.293C>G (p.Pro98Arg)	NKX1-2 (P98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200341	NM_001146340.3(NKX1-2):c.262G>A (p.Glu88Lys)	NKX1-2 (E88K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348875	NM_001146340.3(NKX1-2):c.232G>T (p.Ala78Ser)	NKX1-2 (A78S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316898	NM_001146340.3(NKX1-2):c.211C>A (p.Pro71Thr)	NKX1-2 (P71T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200347	NM_001146340.3(NKX1-2):c.97C>A (p.Arg33Ser)	NKX1-2 (R33S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529480	NM_001146340.3(NKX1-2):c.41C>T (p.Ser14Phe)	NKX1-2 (S14F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200340	NM_001146340.3(NKX1-2):c.23G>A (p.Gly8Glu)	NKX1-2 (G8E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200339	NM_001146340.3(NKX1-2):c.20G>A (p.Gly7Asp)	NKX1-2 (G7D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392420	NM_001146340.3(NKX1-2):c.14A>G (p.Gln5Arg)	NKX1-2 (Q5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244810	NC_000010.10:g.(?_126100603)_(126140009_?)del	NKX1-2, OAT	Deletion	Ornithine aminotransferase deficiency	GPathogenic
Select item 3148924	GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 3063175	GRCh37/hg19 10q26.13-26.3(chr10:125987494-135427143)x1	ABRAXAS2, ADAM12 +55 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063149	GRCh37/hg19 10q26.13-26.3(chr10:126127397-135427143)x1	ABRAXAS2, ADAM12 +54 more	Copy number loss	not specified	GPathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2580338	GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1	ABRAXAS2, ADAM12 +62 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574693	GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	GLRX3, GPR26 +77 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 1527611	GRCh37/hg19 10q26.13(chr10:125920216-126732932)	ABRAXAS2, CTBP2 +6 more	Copy number loss	not specified	GUncertain significance
Select item 1527609	GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)	FAM24A, FAM24B +80 more	Copy number loss	not specified	GPathogenic
Select item 1527608	GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)	ABRAXAS2, ACADSB +68 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 1172570	GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1	FANK1, FGFR2 +79 more	Copy number loss	See cases	GPathogenic
Select item 815379	GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3	FGFR2, FOXI2 +95 more	Copy number gain	not provided	GPathogenic
Select item 688100	GRCh37/hg19 10q26.13-26.3(chr10:124988334-135427143)x3	ABRAXAS2, ADAM12 +58 more	Copy number gain	not provided	GPathogenic
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 563799	GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3	ABRAXAS2, ACADSB +86 more	Copy number gain	not provided	GPathogenic
Select item 563798	GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1	ABRAXAS2, ACADSB +79 more	Copy number loss	not provided	GPathogenic
Select item 563797	GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1	ABRAXAS2, ACADSB +78 more	Copy number loss	not provided	GPathogenic
Select item 563796	GRCh37/hg19 10q26.13-26.3(chr10:125450893-135427143)x1	ABRAXAS2, ADAM12 +58 more	Copy number loss	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 395627	GRCh37/hg19 10q26.13-26.3(chr10:124147428-135370736)x1	ABRAXAS2, ACADSB +73 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic
Select item 253439	GRCh37/hg19 10q26.12-26.2(chr10:122239239-128203032)x1	C10orf90, CHST15 +40 more	Copy number loss	See cases	GPathogenic
Select item 219035	GRCh37/hg19 10q26.13-26.3(chr10:123731209-135353867)x1	ACADSB, ADAM12 +75 more	Copy number loss	See cases	GPathogenic

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Items: 92