MKX[gene] - ClinVar

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

Search results

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 150697	GRCh38/hg38 10p12.1-11.23(chr10:26823016-30248926)x1	ABI1, ACBD5 +101 more	Copy number loss	See cases	GPathogenic
Select item 58719	GRCh38/hg38 10p12.1-11.23(chr10:27046685-30228891)x1	ACBD5, ANKRD26 +90 more	Copy number loss	See cases	GPathogenic
Select item 2206801	NM_173576.3(MKX):c.958G>A (p.Gly320Arg)	MKX (G320R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490340	NM_173576.3(MKX):c.842C>T (p.Thr281Ile)	MKX (T281I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 150848	GRCh38/hg38 10p12.1(chr10:27729990-28399765)x4	LOC124403925, LOC126860890 +17 more	Copy number gain	See cases	GUncertain significance
Select item 2210004	NM_173576.3(MKX):c.833G>A (p.Arg278His)	LOC126860890, MKX (R278H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190179	NM_173576.3(MKX):c.791T>G (p.Val264Gly)	LOC126860890, MKX (V264G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189906	NM_173576.3(MKX):c.736A>G (p.Arg246Gly)	LOC126860890, MKX (R246G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544795	NM_173576.3(MKX):c.725T>C (p.Met242Thr)	LOC126860890, MKX (M242T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189292	NM_173576.3(MKX):c.722T>C (p.Met241Thr)	LOC126860890, MKX (M241T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460148	NM_173576.3(MKX):c.710C>G (p.Thr237Arg)	LOC126860890, MKX (T237R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295023	NM_173576.3(MKX):c.692T>C (p.Leu231Ser)	LOC126860890, MKX (L231S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2630412	NM_173576.3(MKX):c.669G>T (p.Leu223Phe)	LOC126860890, MKX (L223F)	Single nucleotide variant (missense variant)	MKX-related disorder	GUncertain significance
Select item 2240164	NM_173576.3(MKX):c.622G>A (p.Ala208Thr)	LOC126860890, MKX (A208T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188486	NM_173576.3(MKX):c.620G>A (p.Arg207Gln)	LOC126860890, MKX (R207Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602199	NM_173576.3(MKX):c.619C>T (p.Arg207Trp)	LOC126860890, MKX (R207W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187890	NM_173576.3(MKX):c.571A>T (p.Ile191Phe)	LOC126860890, MKX (I191F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033184	NM_173576.3(MKX):c.570G>T (p.Val190=)	LOC126860890, MKX	Single nucleotide variant (synonymous variant)	MKX-related disorder	GLikely benign
Select item 2296348	NM_173576.3(MKX):c.500A>C (p.Glu167Ala)	LOC126860890, MKX (E167A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295022	NM_173576.3(MKX):c.218A>G (p.His73Arg)	MKX (H73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242211	NM_173576.3(MKX):c.193C>G (p.Arg65Gly)	MKX (R65G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548450	NM_173576.3(MKX):c.146C>T (p.Pro49Leu)	MKX (P49L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186729	NM_173576.3(MKX):c.145C>T (p.Pro49Ser)	MKX (P49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218267	NM_173576.3(MKX):c.130G>C (p.Gly44Arg)	MKX (G44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768355	NM_173576.3(MKX):c.119G>A (p.Arg40His)	MKX (R40H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3295021	NM_173576.3(MKX):c.118C>T (p.Arg40Cys)	MKX (R40C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388936	NM_173576.3(MKX):c.116C>A (p.Ala39Asp)	MKX (A39D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544307	NM_173576.3(MKX):c.103G>C (p.Asp35His)	MKX (D35H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484424	NM_173576.3(MKX):c.95G>C (p.Gly32Ala)	MKX (G32A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616905	NM_173576.3(MKX):c.92G>T (p.Ser31Ile)	MKX (S31I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2635688	NM_173576.3(MKX):c.44T>G (p.Phe15Cys)	MKX (F15C)	Single nucleotide variant (missense variant)	MKX-related disorder	GUncertain significance
Select item 3245041	NC_000010.10:g.(?_27294519)_(28250664_?)dup	ACBD5, ANKRD26 +6 more	Duplication	not provided	GUncertain significance
Select item 3063151	GRCh37/hg19 10p12.1-11.23(chr10:25646101-30715668)x1	ABI1, ACBD5 +20 more	Copy number loss	not specified	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 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2427285	NC_000010.10:g.(?_26993586)_(28391597_?)dup	ABI1, ACBD5 +9 more	Duplication	not provided	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1340583	GRCh37/hg19 10p12.1(chr10:27204530-29105882)x1	ACBD5, ANKRD26 +9 more	Copy number loss	not provided	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 980365	GRCh37/hg19 10p12.1(chr10:27265783-28643506)x1	MASTL, MKX +7 more	Copy number loss	not provided	GUncertain significance
Select item 815325	GRCh37/hg19 10p12.1(chr10:27302866-28355945)x3	MKX, RAB18 +7 more	Copy number gain	not provided	GUncertain significance
Select item 563742	GRCh37/hg19 10p12.1(chr10:27587517-27972218)x3	MKX, PTCHD3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 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 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 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: 48