ClinVar for Gene (Select 283078) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3295022	NM_173576.3(MKX):c.218A>G (p.His73Arg)	MKX (H73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3245041	NC_000010.10:g.(?_27294519)_(28250664_?)dup	ACBD5, ANKRD26 +6 more	Duplication	not provided	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 3189292	NM_173576.3(MKX):c.722T>C (p.Met241Thr)	LOC126860890, MKX (M241T)	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 3187890	NM_173576.3(MKX):c.571A>T (p.Ile191Phe)	LOC126860890, MKX (I191F)	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 3063151	GRCh37/hg19 10p12.1-11.23(chr10:25646101-30715668)x1	ABI1, ACBD5 +20 more	Copy number loss	not specified	GPathogenic
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 2635688	NM_173576.3(MKX):c.44T>G (p.Phe15Cys)	MKX (F15C)	Single nucleotide variant (missense variant)	MKX-related disorder	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 2616905	NM_173576.3(MKX):c.92G>T (p.Ser31Ile)	MKX (S31I)	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 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 2548450	NM_173576.3(MKX):c.146C>T (p.Pro49Leu)	MKX (P49L)	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 2544307	NM_173576.3(MKX):c.103G>C (p.Asp35His)	MKX (D35H)	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 2484424	NM_173576.3(MKX):c.95G>C (p.Gly32Ala)	MKX (G32A)	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 2427285	NC_000010.10:g.(?_26993586)_(28391597_?)dup	ABI1, ACBD5 +9 more	Duplication	not provided	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 2296348	NM_173576.3(MKX):c.500A>C (p.Glu167Ala)	LOC126860890, MKX (E167A)	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 2240164	NM_173576.3(MKX):c.622G>A (p.Ala208Thr)	LOC126860890, MKX (A208T)	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 2210004	NM_173576.3(MKX):c.833G>A (p.Arg278His)	LOC126860890, MKX (R278H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 768355	NM_173576.3(MKX):c.119G>A (p.Arg40His)	MKX (R40H)	Single nucleotide variant (missense variant)	not provided	GBenign
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
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 150848	GRCh38/hg38 10p12.1(chr10:27729990-28399765)x4	LOC124403925, LOC126860890 +17 more	Copy number gain	See cases	GUncertain significance
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 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 58719	GRCh38/hg38 10p12.1-11.23(chr10:27046685-30228891)x1	ACBD5, ANKRD26 +90 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 48