C0403399[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 13760	NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)	SPINK1 (N34S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity; association; risk factor
Select item 4724	NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)	ALG1 (S147L)	Single nucleotide variant (missense variant)	Encephalopathy +4 more	GPathogenic/Likely pathogenic
Select item 6873	NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter)	NPHS1 (R1160*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome +1 more	GPathogenic
Select item 191103	NM_004646.4(NPHS1):c.3385A>C (p.Thr1129Pro)	NPHS1 (T1129P)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1526224	NM_004646.4(NPHS1):c.2765C>A (p.Ala922Asp)	NPHS1 (A922D)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 1333306	NM_004646.4(NPHS1):c.2590C>T (p.Arg864Cys)	NPHS1 (R864C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1712391	NM_004646.4(NPHS1):c.2543A>C (p.Lys848Thr)	NPHS1 (K848T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +2 more	GConflicting classifications of pathogenicity
Select item 6875	NM_004646.4(NPHS1):c.2464G>A (p.Val822Met)	NPHS1 (V822M)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1333595	NM_004646.4(NPHS1):c.2402T>A (p.Leu801Gln)	NPHS1 (L801Q)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 56463	NM_004646.4(NPHS1):c.2156_2163del (p.Leu719fs)	NPHS1 (L719fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1526200	NM_004646.4(NPHS1):c.1931-16G>A	NPHS1	Single nucleotide variant (intron variant)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 1526246	NM_004646.4(NPHS1):c.1758-10G>A	NPHS1	Single nucleotide variant (intron variant)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 56438	NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln)	NPHS1 (R460Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1705508	NM_004646.4(NPHS1):c.1367G>A (p.Arg456Gln)	NPHS1 (R456Q)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1526163	NM_004646.4(NPHS1):c.869del (p.Gly290fs)	NPHS1 (G290fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 1344646	NM_004646.4(NPHS1):c.728C>T (p.Pro243Leu)	NPHS1 (P243L)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic