Related gene-specific medical variations for Gene (Select 5800) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068067	NM_030667.3(PTPRO):c.3226T>G (p.Trp1076Gly)	PTPRO (W1048G +3 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 6	GUncertain significance
Select item 3064746	NM_030667.3(PTPRO):c.3418G>A (p.Val1140Met)	PTPRO (V1112M +3 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 6	GUncertain significance
Select item 2972237	NM_030667.3(PTPRO):c.2044-20T>C	LOC126861467, PTPRO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960829	NM_030667.3(PTPRO):c.2044-18A>G	LOC126861467, PTPRO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2689845	NM_030667.3(PTPRO):c.2920T>C (p.Tyr974His)	PTPRO (Y135H +3 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 6	GUncertain significance
Select item 2495615	NM_030667.3(PTPRO):c.2083C>G (p.Pro695Ala)	LOC126861467, PTPRO (P695A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2435292	NM_030667.3(PTPRO):c.2750C>T (p.Pro917Leu)	PTPRO (P106L +3 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 6	GUncertain significance
Select item 2414959	NM_030667.3(PTPRO):c.2055T>C (p.Asn685=)	LOC126861467, PTPRO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2406729	NM_030667.3(PTPRO):c.2128G>A (p.Gly710Arg)	LOC126861467, PTPRO (G710R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2182028	NM_030667.3(PTPRO):c.2044-8T>A	LOC126861467, PTPRO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1670534	NM_030667.3(PTPRO):c.2103C>T (p.Leu701=)	LOC126861467, PTPRO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1317817	NM_030667.3(PTPRO):c.2044-241A>C	LOC126861467, PTPRO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263305	NM_030667.3(PTPRO):c.2164+12G>A	LOC126861467, PTPRO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258356	NM_030667.3(PTPRO):c.2088C>A (p.Gly696=)	LOC126861467, PTPRO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777233	NM_030667.3(PTPRO):c.2100C>T (p.Asn700=)	PTPRO, LOC126861467	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 6 +1 more	GBenign/Likely benign
Select item 755462	NM_030667.3(PTPRO):c.2164+10G>A	LOC126861467, PTPRO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 591052	NM_030667.3(PTPRO):c.948_951dup (p.Pro318fs)	PTPRO (P318fs)	Duplication (frameshift variant)	not provided	GUncertain significance