"PreventionGenetics, part of Exact Sciences"[submitter] AND "NPHS2"[ge - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 260425	NM_014625.4(NPHS2):c.1038A>G (p.Leu346=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 260432	NM_014625.4(NPHS2):c.954C>T (p.Ala318=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	Nephrotic syndrome, type 2 +2 more	GBenign
Select item 293846	NM_014625.4(NPHS2):c.874-11_874-10del	NPHS2, AXDND1	Deletion (intron variant)	Steroid-resistant nephrotic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 751059	NM_014625.4(NPHS2):c.873+10C>T	AXDND1, NPHS2	Single nucleotide variant (intron variant)	NPHS2-related disorder +1 more	GBenign/Likely benign
Select item 260430	NM_014625.4(NPHS2):c.873+7A>G	NPHS2, AXDND1	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis +3 more	GBenign/Likely benign
Select item 126418	NM_014625.4(NPHS2):c.868G>A (p.Val290Met)	NPHS2, AXDND1 (V290M +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +2 more	GConflicting classifications of pathogenicity
Select item 188823	NM_014625.4(NPHS2):c.855_856del (p.Arg286fs)	AXDND1, NPHS2 (R286fs +1 more)	Deletion (frameshift variant +1 more)	Focal segmental glomerulosclerosis +4 more	GPathogenic/Likely pathogenic
Select item 260429	NM_014625.4(NPHS2):c.725C>T (p.Ala242Val)	NPHS2 (A242V)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis +3 more	GConflicting classifications of pathogenicity
Select item 596903	NM_014625.4(NPHS2):c.709G>C (p.Glu237Gln)	NPHS2 (E237Q)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +4 more	GConflicting classifications of pathogenicity
Select item 5370	NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)	NPHS2 (R229Q)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis +6 more	GConflicting classifications of pathogenicity
Select item 260428	NM_014625.4(NPHS2):c.456T>C (p.Leu152=)	NPHS2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 260427	NM_014625.4(NPHS2):c.451+9dup	NPHS2	Duplication (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 928542	NM_014625.4(NPHS2):c.419del (p.Gly140fs)	NPHS2 (G140fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 447880	NM_014625.4(NPHS2):c.416T>G (p.Leu139Arg)	NPHS2 (L139R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 5360	NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)	NPHS2 (R138Q)	Single nucleotide variant (missense variant)	NPHS2-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 1505928	NM_014625.4(NPHS2):c.378G>C (p.Lys126Asn)	NPHS2 (K126N)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 2677345	NM_014625.4(NPHS2):c.293_294del (p.Leu98fs)	NPHS2 (L98fs)	Deletion (frameshift variant)	NPHS2-related disorder +2 more	GPathogenic
Select item 260426	NM_014625.4(NPHS2):c.288C>T (p.Ser96=)	NPHS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1104607	NM_014625.4(NPHS2):c.267C>G (p.Pro89=)	NPHS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 873811	NM_014625.4(NPHS2):c.220G>A (p.Gly74Ser)	NPHS2 (G74S)	Single nucleotide variant (missense variant)	NPHS2-related disorder +2 more	GUncertain significance
Select item 260424	NM_014625.4(NPHS2):c.102A>G (p.Gly34=)	NPHS2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 260431	NM_014625.4(NPHS2):c.87C>G (p.Ala29=)	NPHS2	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 5365	NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu)	NPHS2 (P20L)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +5 more	GConflicting classifications of pathogenicity
Select item 225144	NM_014625.4(NPHS2):c.-51G>T	NPHS2	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis +4 more	GBenign

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Items: 24