ClinVar for Gene (Select 221035) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3152864	NM_001001330.3(REEP3):c.749G>A (p.Arg250Gln)	REEP3 (R250Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152863	NM_001001330.3(REEP3):c.668C>T (p.Ser223Leu)	REEP3 (S223L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152862	NM_001001330.3(REEP3):c.439C>T (p.Arg147Cys)	REEP3 (R147C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152861	NM_001001330.3(REEP3):c.412G>A (p.Val138Ile)	REEP3 (V138I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152860	NM_001001330.3(REEP3):c.283C>G (p.Leu95Val)	REEP3 (L95V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024480	NC_000010.11:g.(?_59792917)_(68231677_?)del	LOC124403968, LOC124403969 +220 more	Deletion	Intellectual developmental disorder, autosomal dominant 70	GLikely pathogenic
Select item 2685375	GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1	A1CF, ADO +51 more	Copy number loss	not provided	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2617570	NM_001001330.3(REEP3):c.535A>G (p.Lys179Glu)	REEP3 (K179E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2550549	NM_001001330.3(REEP3):c.695C>G (p.Thr232Ser)	REEP3 (T232S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526933	NM_001001330.3(REEP3):c.98A>C (p.Lys33Thr)	REEP3 (K33T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522323	NM_001001330.3(REEP3):c.716G>A (p.Arg239Gln)	REEP3 (R239Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404092	NM_001001330.3(REEP3):c.94G>A (p.Val32Met)	REEP3 (V32M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376657	NM_001001330.3(REEP3):c.122A>T (p.Tyr41Phe)	REEP3 (Y41F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371626	NM_001001330.3(REEP3):c.571G>A (p.Gly191Arg)	REEP3 (G191R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336684	NM_001001330.3(REEP3):c.652A>G (p.Lys218Glu)	REEP3 (K218E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 815353	GRCh37/hg19 10q21.2-21.3(chr10:62191184-65348431)x1	CDK1, CABCOCO1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 815349	GRCh37/hg19 10q21.1-21.3(chr10:56031210-65660398)x1	MTRNR2L5, TMEM26 +23 more	Copy number loss	not provided	GPathogenic
Select item 815342	GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1	TIMM23, C10orf71 +50 more	Copy number loss	not provided	GPathogenic
Select item 750339	NM_001001330.3(REEP3):c.666A>G (p.Arg222=)	REEP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711535	NM_001001330.3(REEP3):c.512A>G (p.Gln171Arg)	REEP3 (Q171R)	Single nucleotide variant (missense variant)	not provided	GBenign
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 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +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	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 152646	GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)x3	ADO, ANK3 +227 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 33