ClinVar for MedGen (Select 481730) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367207	NM_030667.3(PTPRO):c.882G>A (p.Thr294=)	PTPRO	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 6	GUncertain significance
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 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 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 1625997	NM_030667.3(PTPRO):c.2997+18del	PTPRO	Deletion (intron variant)	Nephrotic syndrome, type 6 +1 more	GBenign
Select item 1620655	NM_030667.3(PTPRO):c.661+9C>T	PTPRO	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1590988	NM_030667.3(PTPRO):c.2406T>C (p.Ser802=)	PTPRO	Single nucleotide variant (synonymous variant +1 more)	Nephrotic syndrome, type 6 +1 more	GBenign/Likely benign
Select item 1554129	NM_030667.3(PTPRO):c.612C>T (p.Thr204=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1516890	NM_030667.3(PTPRO):c.497T>C (p.Met166Thr)	PTPRO (M166T)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1477792	NM_030667.3(PTPRO):c.1611G>T (p.Met537Ile)	PTPRO (M537I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1316651	NM_030667.3(PTPRO):c.508+19G>A	PTPRO	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 6 +1 more	GBenign/Likely benign
Select item 1315691	NM_030667.3(PTPRO):c.1110C>G (p.Asn370Lys)	PTPRO (N370K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1032235	NM_030667.3(PTPRO):c.1792C>G (p.Leu598Val)	PTPRO (L598V)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 6	GUncertain significance
Select item 1028900	NM_030667.3(PTPRO):c.1733C>T (p.Thr578Ile)	PTPRO (T578I)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 6	GUncertain significance
Select item 981948	NM_030667.3(PTPRO):c.3497G>C (p.Gly1166Ala)	PTPRO (G1138A +3 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 6 +1 more	GConflicting classifications of pathogenicity
Select item 788116	NM_030667.3(PTPRO):c.1776C>T (p.Ser592=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 777233	NM_030667.3(PTPRO):c.2100C>T (p.Asn700=)	LOC126861467, PTPRO	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 6 +1 more	GBenign/Likely benign
Select item 773260	NM_030667.3(PTPRO):c.2841G>A (p.Leu947=)	PTPRO	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 6 +1 more	GBenign/Likely benign
Select item 737213	NM_030667.3(PTPRO):c.3222C>T (p.Asp1074=)	PTPRO	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 6 +1 more	GBenign
Select item 30111	NM_030667.3(PTPRO):c.2829+1G>A	PTPRO	Single nucleotide variant (splice donor variant)	Nephrotic syndrome, type 6	GPathogenic
Select item 30110	NM_030667.3(PTPRO):c.2627+1G>T	PTPRO	Single nucleotide variant (splice donor variant)	Nephrotic syndrome, type 6	GPathogenic

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Items: 22