PTPN1[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 58973	GRCh38/hg38 20q13.13-13.2(chr20:49731076-51202566)x1	ADNP, ADNP-AS1 +124 more	Copy number loss	See cases	GPathogenic
Select item 59219	GRCh38/hg38 20q13.13-13.2(chr20:49947237-55875406)x3	ADNP, ADNP-AS1 +199 more	Copy number gain	See cases	GPathogenic
Select item 148193	GRCh38/hg38 20q13.13-13.2(chr20:49989123-51495645)x1	ADNP, ADNP-AS1 +102 more	Copy number loss	See cases	GLikely pathogenic
Select item 3149059	NM_002827.4(PTPN1):c.204C>T (p.Asn68=)	PTPN1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2306305	NM_002827.4(PTPN1):c.233A>G (p.Gln78Arg)	PTPN1 (Q5R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773088	NM_002827.4(PTPN1):c.492A>G (p.Thr164=)	PTPN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2344831	NM_002827.4(PTPN1):c.494C>T (p.Thr165Ile)	PTPN1 (T92I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282592	NM_002827.4(PTPN1):c.631G>A (p.Val211Ile)	PTPN1 (V138I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3149060	NM_002827.4(PTPN1):c.689C>G (p.Thr230Ser)	PTPN1 (T230S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249956	NM_002827.4(PTPN1):c.713G>A (p.Arg238Lys)	PTPN1 (R165K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652394	NM_002827.4(PTPN1):c.905C>T (p.Pro302Leu)	PTPN1 (P229L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2622659	NM_002827.4(PTPN1):c.1058C>G (p.Pro353Arg)	PTPN1 (P280R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287506	NM_002827.4(PTPN1):c.1133G>A (p.Ser378Asn)	PTPN1 (S378N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149058	NM_002827.4(PTPN1):c.1186G>A (p.Glu396Lys)	PTPN1 (E323K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 789498	NM_002827.4(PTPN1):c.1242C>T (p.Cys414=)	PTPN1	Single nucleotide variant (synonymous variant)	PTPN1-related disorder +1 more	GBenign
Select item 13315	NM_002827.4(PTPN1):c.*104dup	PTPN1	Duplication (3 prime UTR variant)	Insulin resistance, susceptibility to	Grisk factor
Select item 816129	GRCh37/hg19 20q13.13(chr20:49150754-49443848)x3	PTPN1, PARD6B +2 more	Copy number gain	not provided	GLikely benign
Select item 560064	Single allele	ADNP, ARFGEF2 +27 more	Duplication	not provided	GUncertain significance
Select item 443773	GRCh37/hg19 20q13.13-13.2(chr20:47627844-52045480)x1	ADNP, ARFGEF2 +28 more	Copy number loss	See cases	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 442502	GRCh37/hg19 20q13.13-13.2(chr20:47726521-50427649)x1	SPATA2, STAU1 +24 more	Copy number loss	See cases	GLikely pathogenic
Select item 187826	GRCh37/hg19 20q13.13-13.2(chr20:47682662-49884981)x1	KCNG1, SPATA2 +22 more	Copy number loss	See cases	GLikely pathogenic

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Items: 25