ClinVar for Gene (Select 55116) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327088	NM_018056.4(TMEM39B):c.146C>T (p.Thr49Ile)	TMEM39B (T49I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3179461	NM_018056.4(TMEM39B):c.970C>G (p.Leu324Val)	TMEM39B (L324V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179460	NM_018056.4(TMEM39B):c.922G>A (p.Val308Met)	TMEM39B (V181M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179459	NM_018056.4(TMEM39B):c.860A>G (p.Lys287Arg)	TMEM39B (K160R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179458	NM_018056.4(TMEM39B):c.427G>A (p.Val143Met)	TMEM39B (V143M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179457	NM_018056.4(TMEM39B):c.394A>G (p.Ile132Val)	TMEM39B (I132V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179456	NM_018056.4(TMEM39B):c.1475C>T (p.Ser492Phe)	TMEM39B (S293F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179455	NM_018056.4(TMEM39B):c.1451A>C (p.Gln484Pro)	TMEM39B (Q484P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179454	NM_018056.4(TMEM39B):c.1402C>T (p.Arg468Trp)	TMEM39B (R341W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2544095	NM_018056.4(TMEM39B):c.1102G>A (p.Val368Met)	TMEM39B (V241M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516873	NM_018056.4(TMEM39B):c.1441G>C (p.Ala481Pro)	TMEM39B (A282P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497745	NM_018056.4(TMEM39B):c.734C>T (p.Thr245Met)	TMEM39B (T118M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406066	NM_018056.4(TMEM39B):c.1054G>A (p.Ala352Thr)	TMEM39B (A153T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398228	NM_018056.4(TMEM39B):c.68C>T (p.Ser23Leu)	TMEM39B (S23L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2392725	NM_018056.4(TMEM39B):c.397G>A (p.Val133Ile)	TMEM39B (V133I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351350	NM_018056.4(TMEM39B):c.667A>G (p.Met223Val)	TMEM39B (M223V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2332203	NM_018056.4(TMEM39B):c.89A>T (p.His30Leu)	TMEM39B (H30L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2322918	NM_018056.4(TMEM39B):c.1051G>A (p.Ala351Thr)	TMEM39B (A224T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278580	NM_018056.4(TMEM39B):c.547T>C (p.Phe183Leu)	TMEM39B (F56L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268825	NM_018056.4(TMEM39B):c.11G>A (p.Arg4Gln)	TMEM39B (R4Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2237350	NM_018056.4(TMEM39B):c.998T>G (p.Ile333Ser)	TMEM39B (I206S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208508	NM_018056.4(TMEM39B):c.466C>T (p.Arg156Cys)	TMEM39B (R156C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2203895	NM_018056.4(TMEM39B):c.506C>T (p.Thr169Met)	TMEM39B (T42M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1526651	GRCh37/hg19 1p35.1(chr1:32462251-32721488)	TMEM234, TMEM39B +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 814067	GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3	TMEM54, RBBP4 +51 more	Copy number gain	not provided	GLikely pathogenic
Select item 686004	GRCh37/hg19 1p35.2-35.1(chr1:32139063-32940848)x4	ADGRB2, BSDC1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	A3GALT2, ADGRB2 +214 more	Copy number loss	See cases	GPathogenic
Select item 58059	GRCh38/hg38 1p35.2-35.1(chr1:31122108-32402160)x3	LOC129930033, LOC129930034 +117 more	Copy number gain	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 36