ClinVar for Gene (Select 57698) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318429	NM_001127211.3(SHTN1):c.517G>T (p.Val173Leu)	SHTN1 (V113L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318428	NM_001127211.3(SHTN1):c.394G>A (p.Ala132Thr)	SHTN1 (A72T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244903	NC_000010.10:g.(?_117823909)_(119750414_?)dup	PNLIPRP2, PNLIPRP3 +14 more	Duplication	Microphthalmia, syndromic 11	GUncertain significance
Select item 3162024	NM_001127211.3(SHTN1):c.1451G>A (p.Arg484Lys)	ENO4, LOC126861056 +1 more (R424K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162023	NM_001127211.3(SHTN1):c.1276G>A (p.Val426Ile)	SHTN1 (V426I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162022	NM_001127211.3(SHTN1):c.1006C>T (p.His336Tyr)	SHTN1 (H336Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
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 2624001	NM_001127211.3(SHTN1):c.10T>G (p.Ser4Ala)	LOC124416916, SHTN1 (S4A)	Single nucleotide variant (missense variant +2 more)	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 2542668	NM_001242699.2(ENO4):c.1837G>C (p.Gly613Arg)	ENO4, SHTN1 (G613R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533797	NM_001127211.3(SHTN1):c.1408C>A (p.Pro470Thr)	ENO4, LOC126861056 +1 more (P410T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2512547	NM_001242699.2(ENO4):c.1745T>C (p.Phe582Ser)	ENO4, SHTN1 (F582S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481619	NM_001127211.3(SHTN1):c.1612C>T (p.Pro538Ser)	ENO4, SHTN1 (P478S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478510	NM_001127211.3(SHTN1):c.1075C>G (p.Pro359Ala)	SHTN1 (P299A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473132	NM_001127211.3(SHTN1):c.1633C>T (p.Arg545Cys)	ENO4, SHTN1 (R545C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2321869	NM_001242699.2(ENO4):c.1786C>T (p.Leu596Phe)	ENO4, SHTN1 (L596F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312513	NM_001127211.3(SHTN1):c.389G>A (p.Gly130Asp)	SHTN1 (G70D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273876	NM_001127211.3(SHTN1):c.517G>A (p.Val173Ile)	SHTN1 (V173I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253730	NM_001127211.3(SHTN1):c.1618C>T (p.Pro540Ser)	ENO4, SHTN1 (P480S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250555	NM_001127211.3(SHTN1):c.1456G>T (p.Val486Leu)	ENO4, LOC126861056 +1 more (V486L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240210	NM_001127211.3(SHTN1):c.1667C>T (p.Thr556Met)	ENO4, SHTN1 (T496M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 768393	NM_001127211.3(SHTN1):c.1317G>A (p.Ser439=)	ENO4, SHTN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
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 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 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	ABLIM1, ACSL5 +308 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 57171	GRCh38/hg38 10q25.3(chr10:114584882-117015907)x1	ABLIM1, ATRNL1 +45 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 48