ClinVar for Gene (Select 56063) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271040	NM_001099434.2(DCDC2B):c.847T>A (p.Ser283Thr)	DCDC2B, TMEM234 (S283T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179229	NM_019118.5(TMEM234):c.347T>G (p.Val116Gly)	LOC126805686, TMEM234 (V116G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179228	NM_019118.5(TMEM234):c.20A>G (p.Gln7Arg)	LOC126805687, TMEM234 (Q7R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179227	NM_019118.5(TMEM234):c.197G>A (p.Cys66Tyr)	TMEM234 (C66Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179226	NM_019118.5(TMEM234):c.191A>G (p.Asn64Ser)	TMEM234 (N64S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080433	NM_001099434.2(DCDC2B):c.871G>A (p.Ala291Thr)	DCDC2B, TMEM234 (A291T)	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 2638608	NM_019118.5(TMEM234):c.150C>G (p.Thr50=)	LOC126805687, TMEM234	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2601718	NM_019118.5(TMEM234):c.164C>T (p.Thr55Ile)	LOC126805687, TMEM234 (T55I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488628	NM_001099434.2(DCDC2B):c.865T>C (p.Tyr289His)	DCDC2B, TMEM234 (Y289H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380956	NM_019118.5(TMEM234):c.10T>A (p.Ser4Thr)	LOC126805687, TMEM234 (S4T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306149	NM_001099434.2(DCDC2B):c.715G>T (p.Ala239Ser)	DCDC2B, TMEM234 (A239S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259551	NM_019118.5(TMEM234):c.128A>C (p.Gln43Pro)	LOC126805687, TMEM234 (Q43P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205412	NM_019118.5(TMEM234):c.149C>T (p.Thr50Ile)	LOC126805687, TMEM234 (T50I)	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 565084	GRCh37/hg19 1p35.1(chr1:32608682-32953541)x3	FAM229A, DCDC2B +13 more	Copy number gain	not provided	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 394775	GRCh37/hg19 1p35.1(chr1:32679986-32683012)x1	DCDC2B, TMEM234	Copy number loss	See cases	GUncertain significance
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

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Links from Gene

Items: 28