PEF1[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 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
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 154853	GRCh38/hg38 1p35.2(chr1:30864842-32021241)x3	ADGRB2, COL16A1 +78 more	Copy number gain	See cases	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

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Items: 32