"PreventionGenetics, part of Exact Sciences"[submitter] AND "PTPRO"[ge - ClinVar

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

Search results

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1614800	NM_030667.3(PTPRO):c.31G>T (p.Ala11Ser)	PTPRO (A11S)	Single nucleotide variant (missense variant)	PTPRO-related disorder +1 more	GBenign/Likely benign
Select item 2170933	NM_030667.3(PTPRO):c.60C>G (p.Leu20=)	PTPRO	Single nucleotide variant (synonymous variant)	PTPRO-related disorder +1 more	GLikely benign
Select item 2630196	NM_030667.3(PTPRO):c.76-67403G>A	PTPRO	Single nucleotide variant (intron variant)	PTPRO-related disorder	GUncertain significance
Select item 3036572	NM_030667.3(PTPRO):c.255G>A (p.Lys85=)	PTPRO	Single nucleotide variant (synonymous variant)	PTPRO-related disorder	GLikely benign
Select item 2052680	NM_030667.3(PTPRO):c.561T>C (p.Tyr187=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2085274	NM_030667.3(PTPRO):c.639C>T (p.His213=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3032894	NM_030667.3(PTPRO):c.663C>A (p.Ala221=)	PTPRO	Single nucleotide variant (synonymous variant)	PTPRO-related disorder	GLikely benign
Select item 708124	NM_030667.3(PTPRO):c.682A>G (p.Ile228Val)	PTPRO (I228V)	Single nucleotide variant (missense variant)	PTPRO-related disorder +1 more	GBenign/Likely benign
Select item 3058058	NM_030667.3(PTPRO):c.945C>T (p.Ser315=)	PTPRO	Single nucleotide variant (synonymous variant)	PTPRO-related disorder	GLikely benign
Select item 3047187	NM_030667.3(PTPRO):c.1093A>T (p.Ile365Phe)	PTPRO (I365F)	Single nucleotide variant (missense variant)	PTPRO-related disorder	GUncertain significance
Select item 2721159	NM_030667.3(PTPRO):c.1099C>A (p.Arg367=)	PTPRO	Single nucleotide variant (synonymous variant)	PTPRO-related disorder +1 more	GLikely benign
Select item 3031660	NM_030667.3(PTPRO):c.1158A>C (p.Ala386=)	PTPRO	Single nucleotide variant (synonymous variant)	PTPRO-related disorder	GLikely benign
Select item 3032280	NM_030667.3(PTPRO):c.1308G>A (p.Pro436=)	PTPRO	Single nucleotide variant (synonymous variant)	PTPRO-related disorder	GLikely benign
Select item 774818	NM_030667.3(PTPRO):c.1465-9G>T	PTPRO	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2048493	NM_030667.3(PTPRO):c.1578T>C (p.Phe526=)	PTPRO	Single nucleotide variant (synonymous variant)	PTPRO-related disorder +1 more	GLikely benign
Select item 788116	NM_030667.3(PTPRO):c.1776C>T (p.Ser592=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3036640	NM_030667.3(PTPRO):c.1836G>A (p.Thr612=)	PTPRO	Single nucleotide variant (synonymous variant)	PTPRO-related disorder	GLikely benign
Select item 3061149	NM_030667.3(PTPRO):c.1891+6G>T	PTPRO	Single nucleotide variant (intron variant)	PTPRO-related disorder	GLikely benign
Select item 3045811	NM_030667.3(PTPRO):c.1891+8A>T	PTPRO	Single nucleotide variant (intron variant)	PTPRO-related disorder	GLikely benign
Select item 2180228	NM_030667.3(PTPRO):c.1905G>A (p.Pro635=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 668247	NM_030667.3(PTPRO):c.1973C>T (p.Thr658Met)	PTPRO (T658M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2150654	NM_030667.3(PTPRO):c.2226G>A (p.Leu742=)	PTPRO	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1590988	NM_030667.3(PTPRO):c.2406T>C (p.Ser802=)	PTPRO	Single nucleotide variant (synonymous variant +1 more)	PTPRO-related disorder +2 more	GBenign/Likely benign
Select item 3048263	NM_030667.3(PTPRO):c.2438-10A>C	PTPRO	Single nucleotide variant (intron variant)	PTPRO-related disorder	GLikely benign
Select item 3030292	NM_030667.3(PTPRO):c.2748-10T>C	PTPRO	Single nucleotide variant (intron variant)	PTPRO-related disorder	GLikely benign
Select item 2154829	NM_030667.3(PTPRO):c.2920+9G>A	PTPRO	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1578880	NM_030667.3(PTPRO):c.3222C>A (p.Asp1074Glu)	PTPRO (D1046E +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 737213	NM_030667.3(PTPRO):c.3222C>T (p.Asp1074=)	PTPRO	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 6 +2 more	GBenign/Likely benign
Select item 3050500	NM_030667.3(PTPRO):c.3255+7C>T	PTPRO	Single nucleotide variant (intron variant)	PTPRO-related disorder	GLikely benign
Select item 3051782	NM_030667.3(PTPRO):c.3288C>T (p.Asn1096=)	PTPRO	Single nucleotide variant (synonymous variant)	PTPRO-related disorder	GLikely benign
Select item 3031850	NM_030667.3(PTPRO):c.3530C>T (p.Ser1177Phe)	PTPRO (S1149F +3 more)	Single nucleotide variant (missense variant)	PTPRO-related disorder	GLikely benign
Select item 3055938	NM_030667.3(PTPRO):c.3546+9A>G	PTPRO	Single nucleotide variant (intron variant)	PTPRO-related disorder	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 32