PEBP1[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	ANKLE2, ARL6IP4 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 3211304	NM_002567.4(PEBP1):c.29G>C (p.Gly10Ala)	PEBP1 (G10A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211306	NM_002567.4(PEBP1):c.80T>C (p.Val27Ala)	PEBP1 (V27A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304699	NM_002567.4(PEBP1):c.212C>T (p.Pro71Leu)	PEBP1 (P71L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710177	NM_002567.4(PEBP1):c.284A>G (p.Asn95Ser)	PEBP1 (N95S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3211305	NM_002567.4(PEBP1):c.389C>T (p.Pro130Leu)	PEBP1 (P130L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775314	NM_002567.4(PEBP1):c.433C>T (p.His145Tyr)	PEBP1 (H145Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2394530	NM_002567.4(PEBP1):c.481A>G (p.Arg161Gly)	PEBP1 (R161G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3063271	GRCh37/hg19 12q24.21-24.23(chr12:116718608-120115397)x1	CCDC60, FBXO21 +18 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685457	GRCh37/hg19 12q24.21-24.23(chr12:116499832-118681240)x1	FBXO21, FBXW8 +13 more	Copy number loss	not provided	GPathogenic
Select item 1527741	GRCh37/hg19 12q24.23-24.31(chr12:118486842-120995382)	PXN, RAB35 +24 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527740	GRCh37/hg19 12q24.22-24.23(chr12:118014801-118716129)	KSR2, PEBP1 +4 more	Copy number loss	not specified	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 815561	GRCh37/hg19 12q24.22-24.23(chr12:117858408-118668114)x4	VSIG10, PEBP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686465	GRCh37/hg19 12q24.21-24.23(chr12:116718607-119728623)x1	FBXO21, FBXW8 +15 more	Copy number loss	not provided	GUncertain significance
Select item 563947	GRCh37/hg19 12q24.23(chr12:118258061-118726805)x3	RFC5, PEBP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 395069	GRCh37/hg19 12q24.21-24.23(chr12:116028864-118791808)x1	FBXO21, FBXW8 +13 more	Copy number loss	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 22