PTBP2[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 148454	GRCh38/hg38 1p21.3(chr1:96124445-99094525)x1	DPYD, DPYD-AS1 +29 more	Copy number loss	See cases	GUncertain significance
Select item 59973	GRCh38/hg38 1p21.3(chr1:96554406-97919058)x1	DPYD, DPYD-AS1 +8 more	Copy number loss	See cases	GPathogenic
Select item 2610421	NM_021190.4(PTBP2):c.6C>A (p.Asp2Glu)	PTBP2 (D2E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1301613	NM_021190.4(PTBP2):c.40-1774A>T	PTBP2 (R13*)	Single nucleotide variant (nonsense +1 more)	not specified	GLikely benign
Select item 786466	NM_021190.4(PTBP2):c.40-6T>C	PTBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2557884	NM_021190.4(PTBP2):c.92A>C (p.Asn31Thr)	PTBP2 (N39T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 713770	NM_021190.4(PTBP2):c.147A>G (p.Gly49=)	PTBP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2387292	NM_021190.4(PTBP2):c.163G>T (p.Gly55Cys)	PTBP2 (G63C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324820	NM_021190.4(PTBP2):c.365G>A (p.Arg122His)	PTBP2 (R133H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253498	NM_021190.4(PTBP2):c.376A>G (p.Ile126Val)	PTBP2 (I137V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288382	NM_021190.4(PTBP2):c.478A>G (p.Asn160Asp)	PTBP2 (N171D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 720990	NM_021190.4(PTBP2):c.765C>T (p.Ser255=)	PTBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2240386	NM_021190.4(PTBP2):c.874G>A (p.Ala292Thr)	PTBP2 (A240T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 144271	GRCh38/hg38 1p21.3(chr1:96800847-97758063)x1	DPYD, DPYD-AS1 +3 more	Copy number loss	See cases	GUncertain significance
Select item 3311085	NM_021190.4(PTBP2):c.917C>G (p.Ala306Gly)	PTBP2 (A306G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556125	NM_021190.4(PTBP2):c.977G>A (p.Arg326Gln)	PTBP2 (R274Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311087	NM_021190.4(PTBP2):c.1118A>G (p.Asn373Ser)	PTBP2 (N321S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249202	NM_021190.4(PTBP2):c.1176G>A (p.Met392Ile)	PTBP2 (M400I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311084	NM_021190.4(PTBP2):c.1387C>G (p.Pro463Ala)	PTBP2 (P468A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311086	NM_021190.4(PTBP2):c.1531C>G (p.Leu511Val)	PTBP2 (L516V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063166	GRCh37/hg19 1p22.1-21.3(chr1:94304238-97280301)x3	ABCA4, ABCD3 +11 more	Copy number gain	not specified	GUncertain significance
Select item 1809081	GRCh37/hg19 1p21.3(chr1:96492298-98945160)x1	DPYD, MIR137 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
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 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
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: 28