ClinVar for Gene (Select 118672) - ClinVar

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Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311068	NM_001363531.2(PSTK):c.11C>T (p.Ala4Val)	PSTK, LOC130004874 (A4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311067	NM_001363531.2(PSTK):c.44C>T (p.Pro15Leu)	LOC130004874, PSTK (P15L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244922	NC_000010.10:g.(?_122610933)_(124813281_?)dup	ACADSB, ARMS2 +16 more	Duplication	FGFR2-related craniosynostosis	GUncertain significance
Select item 3244863	NC_000010.10:g.(?_122842033)_(124813281_?)del	ACADSB, ARMS2 +15 more	Deletion	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GPathogenic
Select item 3220547	NM_001363531.2(PSTK):c.816T>G (p.Ile272Met)	PSTK (I272M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220546	NM_001363531.2(PSTK):c.374T>A (p.Phe125Tyr)	PSTK (F125Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220545	NM_001363531.2(PSTK):c.259C>G (p.Leu87Val)	PSTK (L87V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220544	NM_001363531.2(PSTK):c.224A>T (p.Gln75Leu)	PSTK (Q75L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	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 2604082	NM_001363531.2(PSTK):c.40G>A (p.Gly14Arg)	LOC130004874, PSTK (G14R)	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 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 2549049	NM_001363531.2(PSTK):c.217C>T (p.Pro73Ser)	PSTK (P73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514964	NM_001363531.2(PSTK):c.21C>G (p.Ile7Met)	LOC130004874, PSTK (I7M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2495614	NM_001363531.2(PSTK):c.71G>A (p.Cys24Tyr)	LOC130004874, PSTK (C24Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483692	NM_001363531.2(PSTK):c.689C>T (p.Ala230Val)	PSTK (A230V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480259	NM_001363531.2(PSTK):c.628G>A (p.Glu210Lys)	PSTK (E210K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462292	NM_001363531.2(PSTK):c.691T>C (p.Cys231Arg)	PSTK (C231R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422456	NC_000010.10:g.(?_123239371)_(124813281_?)del	ACADSB, ARMS2 +15 more	Deletion	FGFR2-related craniosynostosis	GUncertain significance
Select item 2288338	NM_001363531.2(PSTK):c.121C>T (p.Arg41Trp)	LOC130004874, PSTK (R41W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244477	NM_001363531.2(PSTK):c.343A>G (p.Ile115Val)	PSTK (I115V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219249	NM_001363531.2(PSTK):c.205G>C (p.Ala69Pro)	LOC130004874, PSTK (A69P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807931	GRCh37/hg19 10q26.13(chr10:124252660-125447562)x1	ACADSB, BUB3 +12 more	Copy number loss	not provided	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 1527606	GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066)	ACADSB, ARMS2 +54 more	Copy number loss	not specified	GPathogenic
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 1077193	Single allele	BTBD16, C10orf120 +36 more	Deletion	not provided	GLikely pathogenic
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 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 625556	GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806)	ACADSB, ARMS2 +54 more	Copy number loss	Distal 10q deletion syndrome	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 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 253890	GRCh37/hg19 10q26.13(chr10:124593422-125010666)x3	HMX2, FAM24A +8 more	Copy number gain	See cases	GUncertain significance
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
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 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	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 150986	GRCh38/hg38 10q26.13(chr10:122143176-124358013)x1	ACADSB, ARMS2 +81 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 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	LOC130004994, LOC130004995 +361 more	Copy number loss	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 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
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 58821	GRCh38/hg38 10q26.13-26.2(chr10:122973296-128210291)x1	ABRAXAS2, ACADSB +182 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 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 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 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
Select item 57088	GRCh38/hg38 10q26.11-26.13(chr10:119273012-123117390)x3	FGFR2, GRK5 +119 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 71