"Athena Diagnostics"[submitter] AND "NPHS2"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 586184	NM_014625.4(NPHS2):c.1064A>G (p.Asn355Ser)	AXDND1, NPHS2 (N355S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 556375	NM_014625.4(NPHS2):c.979C>T (p.Leu327Phe)	AXDND1, NPHS2 (L327F +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 988125	NM_014625.4(NPHS2):c.965G>C (p.Arg322Pro)	AXDND1, NPHS2 (R254P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 447884	NM_014625.4(NPHS2):c.951del (p.Ala318fs)	AXDND1, NPHS2 (A250fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 188990	NM_014625.4(NPHS2):c.948del (p.Ala317fs)	AXDND1, NPHS2 (A317fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 586186	NM_014625.4(NPHS2):c.852G>A (p.Ala284=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 562398	NM_014625.4(NPHS2):c.851C>T (p.Ala284Val)	AXDND1, NPHS2 (A284V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 447883	NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln)	AXDND1, NPHS2 (E264Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 447882	NM_014625.4(NPHS2):c.779T>A (p.Val260Glu)	AXDND1, NPHS2 (V260E +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +1 more	GPathogenic
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 556556	NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser)	NPHS2 (R238S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 5370	NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)	NPHS2 (R229Q)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 370159	NM_014625.4(NPHS2):c.643C>T (p.Gln215Ter)	NPHS2 (Q215*)	Single nucleotide variant (nonsense +1 more)	Nephrotic syndrome, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 5368	NM_014625.4(NPHS2):c.538G>A (p.Val180Met)	NPHS2 (V180M)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +1 more	GPathogenic
Select item 188730	NM_014625.4(NPHS2):c.503G>A (p.Arg168His)	NPHS2 (R168H)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 2 +2 more	GPathogenic/Likely pathogenic
Select item 260427	NM_014625.4(NPHS2):c.451+9dup	NPHS2	Duplication (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 586185	NM_014625.4(NPHS2):c.447C>T (p.Gly149=)	NPHS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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)	See cases +4 more	GPathogenic/Likely pathogenic
Select item 5361	NM_014625.4(NPHS2):c.412C>T (p.Arg138Ter)	NPHS2 (R138*)	Single nucleotide variant (nonsense)	Focal segmental glomerulosclerosis +3 more	GPathogenic
Select item 447879	NM_014625.4(NPHS2):c.304G>A (p.Glu102Lys)	NPHS2 (E102K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1806993	NM_014625.4(NPHS2):c.264del (p.Glu90fs)	NPHS2 (E90fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 447877	NM_014625.4(NPHS2):c.182C>T (p.Ala61Val)	NPHS2 (A61V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 447876	NM_014625.4(NPHS2):c.104dup (p.Arg36fs)	NPHS2 (R36fs)	Duplication (frameshift variant)	Nephrotic syndrome, type 2 +1 more	GPathogenic
Select item 260431	NM_014625.4(NPHS2):c.87C>G (p.Ala29=)	NPHS2	Single nucleotide variant (synonymous variant)	not provided +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)	Nephrotic syndrome, type 2 +5 more	GConflicting classifications of pathogenicity
Select item 447878	NM_014625.4(NPHS2):c.28dup (p.Arg10fs)	NPHS2 (R10fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic

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Items: 29