"Illumina Laboratory Services, Illumina"[submitter] AND "KIRREL2"[gene - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 888611	NM_004646.4(NPHS1):c.218C>T (p.Pro73Leu)	KIRREL2, NPHS1 (P73L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 328882	NM_004646.4(NPHS1):c.151C>T (p.Leu51=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 259483	NM_004646.4(NPHS1):c.128T>C (p.Val43Ala)	KIRREL2, NPHS1 (V43A)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 737074	NM_004646.4(NPHS1):c.126G>T (p.Thr42=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 328883	NM_004646.4(NPHS1):c.115G>A (p.Glu39Lys)	KIRREL2, NPHS1 (E39K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 259504	NM_004646.4(NPHS1):c.59-5C>G	KIRREL2, NPHS1	Single nucleotide variant (intron variant)	Finnish congenital nephrotic syndrome +4 more	GConflicting classifications of pathogenicity
Select item 259502	NM_004646.4(NPHS1):c.43G>C (p.Gly15Arg)	KIRREL2, NPHS1 (G15R)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 290580	NM_004646.4(NPHS1):c.25G>A (p.Ala9Thr)	KIRREL2, NPHS1 (A9T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 732252	NM_004646.4(NPHS1):c.14C>T (p.Thr5Met)	KIRREL2, NPHS1 (T5M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 328884	NM_004646.4(NPHS1):c.-31C>T	KIRREL2, NPHS1	Single nucleotide variant (5 prime UTR variant)	Congenital nephrotic syndrome	GUncertain significance
Select item 328885	NM_004646.4(NPHS1):c.-57G>T	KIRREL2, NPHS1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 328886	NM_004646.4(NPHS1):c.-61G>A	KIRREL2, NPHS1	Single nucleotide variant (5 prime UTR variant)	Congenital nephrotic syndrome	GLikely benign
Select item 328887	NM_004646.4(NPHS1):c.-81C>G	NPHS1, KIRREL2	Single nucleotide variant (5 prime UTR variant)	Finnish congenital nephrotic syndrome +2 more	GBenign
Select item 890875	NM_004646.4(NPHS1):c.-140G>A	KIRREL2, NPHS1	Single nucleotide variant (5 prime UTR variant)	Congenital nephrotic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 369263	NM_004646.3(NPHS1):c.-170T>C	KIRREL2, NPHS1	Single nucleotide variant (genic upstream transcript variant)	not provided +1 more	GBenign/Likely benign
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic