ClinVar for Gene (Select 553115) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3211330	NM_012392.4(PEF1):c.712A>G (p.Met238Val)	HCRTR1, PEF1 (M168V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211329	NM_012392.4(PEF1):c.509G>A (p.Arg170His)	HCRTR1, PEF1 (R100H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211328	NM_012392.4(PEF1):c.440A>G (p.Asn147Ser)	HCRTR1, PEF1 (N147S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211327	NM_012392.4(PEF1):c.419A>G (p.Lys140Arg)	HCRTR1, PEF1 (K140R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211324	NM_012392.4(PEF1):c.334C>T (p.Pro112Ser)	HCRTR1, PEF1 (P112S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211323	NM_012392.4(PEF1):c.191A>T (p.Tyr64Phe)	PEF1 (Y64F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3211322	NM_012392.4(PEF1):c.166G>A (p.Gly56Arg)	PEF1 (G56R)	Single nucleotide variant (5 prime UTR variant +1 more)	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 2550238	NM_012392.4(PEF1):c.694C>T (p.Arg232Cys)	HCRTR1, PEF1 (R162C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465262	NM_012392.4(PEF1):c.521A>G (p.Tyr174Cys)	HCRTR1, PEF1 (Y104C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388674	NM_012392.4(PEF1):c.683G>A (p.Arg228His)	HCRTR1, PEF1 (R228H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387541	NM_012392.4(PEF1):c.584G>A (p.Arg195Gln)	HCRTR1, PEF1 (R195Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379260	NM_012392.4(PEF1):c.372G>T (p.Gln124His)	HCRTR1, PEF1 (Q124H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375342	NM_012392.4(PEF1):c.773G>A (p.Arg258Gln)	HCRTR1, PEF1 (R188Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361812	NM_012392.4(PEF1):c.601A>G (p.Ile201Val)	HCRTR1, PEF1 (I201V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321770	NM_012392.4(PEF1):c.398A>G (p.Tyr133Cys)	HCRTR1, PEF1 (Y63C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261461	NM_012392.4(PEF1):c.788C>A (p.Ala263Asp)	HCRTR1, PEF1 (A263D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261130	NM_012392.4(PEF1):c.383C>T (p.Ser128Leu)	HCRTR1, PEF1 (S128L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247130	NM_012392.4(PEF1):c.829A>G (p.Thr277Ala)	HCRTR1, PEF1 (T207A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231237	NM_012392.4(PEF1):c.124C>G (p.Pro42Ala)	PEF1 (P42A)	Single nucleotide variant (5 prime UTR variant +1 more)	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 685990	GRCh37/hg19 1p35.2(chr1:32090118-32280833)x3	ADGRB2, COL16A1 +3 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 154853	GRCh38/hg38 1p35.2(chr1:30864842-32021241)x3	ADGRB2, COL16A1 +78 more	Copy number gain	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 32