ClinVar for MedGen (Select 588369) - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1344674	NM_000278.5(PAX2):c.275C>T (p.Thr92Met)	PAX2 (T123M +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +1 more	GLikely pathogenic
Select item 1344673	NM_000278.5(PAX2):c.254G>T (p.Gly85Val)	PAX2 (G116V +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +1 more	GLikely pathogenic
Select item 1269373	NM_014625.4(NPHS2):c.-185T>C	NPHS2	Single nucleotide variant	not provided	GBenign
Select item 1165811	NM_014625.4(NPHS2):c.-116C>T	NPHS2	Single nucleotide variant (genic upstream transcript variant)	Nephrotic syndrome, type 2 +1 more	GBenign
Select item 1160562	NM_014625.4(NPHS2):c.685C>A (p.Arg229=)	NPHS2	Single nucleotide variant (synonymous variant +1 more)	Steroid-resistant nephrotic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1156124	NM_014625.4(NPHS2):c.87C>T (p.Ala29=)	NPHS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1120175	NM_003661.3:c.[1024A>G;1152T>G];[1164_1169delTTATAA]	APOL1 (I400M +5 more)	Single nucleotide variant (missense variant)	Hyalinosis, Segmental Glomerular	Grisk factor
Select item 1068472	NM_014625.4(NPHS2):c.1032del (p.Phe344fs)	AXDND1, NPHS2 (F276fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1039243	NM_014625.4(NPHS2):c.548A>G (p.Asp183Gly)	NPHS2 (D183G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 996286	NM_014625.4(NPHS2):c.452del	NPHS2	Deletion (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 989642	NM_014625.4(NPHS2):c.745T>C (p.Leu249=)	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 989641	NM_014625.4(NPHS2):c.794+10A>C	AXDND1, NPHS2	Single nucleotide variant (intron variant)	Steroid-resistant nephrotic syndrome	GUncertain significance
Select item 989640	NM_014625.4(NPHS2):c.1097C>T (p.Pro366Leu)	AXDND1, NPHS2 (P298L +1 more)	Single nucleotide variant (missense variant +1 more)	Steroid-resistant nephrotic syndrome	GUncertain significance
Select item 972638	NM_014625.4(NPHS2):c.714G>C (p.Arg238Ser)	NPHS2 (R238S)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +2 more	GPathogenic/Likely pathogenic
Select item 928542	NM_014625.4(NPHS2):c.419del (p.Gly140fs)	NPHS2 (G140fs)	Deletion (frameshift variant)	NPHS2-related disorder +2 more	GPathogenic
Select item 917730	NM_014625.4(NPHS2):c.259G>T (p.Glu87Ter)	NPHS2 (E87*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 873812	NM_014625.4(NPHS2):c.120G>A (p.Glu40=)	NPHS2	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 812906	NM_033380.3(COL4A5):c.674C>T (p.Pro225Leu)	COL4A5 (P225L)	Single nucleotide variant (missense variant)	Steroid-resistant nephrotic syndrome	GLikely pathogenic
Select item 805944	NM_000091.5(COL4A3):c.4145G>T (p.Gly1382Val)	MFF-DT, COL4A3 (G1382V)	Single nucleotide variant (missense variant)	Steroid-resistant nephrotic syndrome	GUncertain significance
Select item 805943	NM_000092.5(COL4A4):c.2956C>T (p.Pro986Ser)	COL4A4 (P986S)	Single nucleotide variant (missense variant)	Steroid-resistant nephrotic syndrome +1 more	GUncertain significance
Select item 792523	NM_014625.4(NPHS2):c.390G>A (p.Glu130=)	NPHS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 752488	NM_014625.4(NPHS2):c.885A>G (p.Ala295=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	Nephrotic syndrome, type 2 +1 more	GLikely benign
Select item 751059	NM_014625.4(NPHS2):c.873+10C>T	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 749073	NM_014625.4(NPHS2):c.615C>T (p.Ser205=)	NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 741670	NM_014625.4(NPHS2):c.372C>T (p.Cys124=)	NPHS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 741300	NM_014625.4(NPHS2):c.452-17CTC[2]	NPHS2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 734422	NM_014625.4(NPHS2):c.1113G>A (p.Glu371=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 726089	NM_014625.4(NPHS2):c.126G>A (p.Gly42=)	NPHS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716375	NM_014625.4(NPHS2):c.144C>T (p.Ser48=)	NPHS2	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 2 +1 more	GLikely benign
Select item 684651	NM_006576.4(AVIL):c.1964dup (p.Phe656fs)	AVIL, TSFM (F656fs)	Duplication (frameshift variant +1 more)	Nephrotic syndrome, type 21	GUncertain significance
Select item 684650	NM_006576.4(AVIL):c.404G>A (p.Arg135Gln)	AVIL (R135Q)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 21	GLikely pathogenic
Select item 684649	NM_006576.4(AVIL):c.1337G>A (p.Arg446His)	AVIL (R446H)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 21 +1 more	GPathogenic
Select item 684648	NM_006576.4(AVIL):c.1273C>A (p.Leu425Met)	AVIL (L425M)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 21 +1 more	GPathogenic
Select item 596903	NM_014625.4(NPHS2):c.709G>C (p.Glu237Gln)	NPHS2 (E237Q)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 586184	NM_014625.4(NPHS2):c.1064A>G (p.Asn355Ser)	NPHS2, AXDND1 (N355S +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +1 more	GUncertain significance
Select item 556941	NM_014625.4(NPHS2):c.467dup (p.Leu156fs)	NPHS2 (L156fs)	Duplication (frameshift variant)	not provided +1 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)	Nephrotic syndrome, type 2 +2 more	GPathogenic/Likely pathogenic
Select item 555842	NM_014625.4(NPHS2):c.671G>A (p.Arg224His)	NPHS2 (R224H)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 550771	NM_014625.4(NPHS2):c.124G>A (p.Gly42Arg)	NPHS2 (G42R)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 2 +1 more	GBenign/Likely benign
Select item 550033	NM_014625.4(NPHS2):c.622G>A (p.Ala208Thr)	NPHS2 (A208T)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +2 more	GUncertain significance
Select item 504890	NM_014625.4(NPHS2):c.535-1G>T	NPHS2	Single nucleotide variant (intron variant +1 more)	Idiopathic nephrotic syndrome +2 more	GPathogenic/Likely pathogenic
Select item 447882	NM_014625.4(NPHS2):c.779T>A (p.Val260Glu)	AXDND1, NPHS2 (V260E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 374208	NM_014140.4(SMARCAL1):c.723C>A (p.Cys241Ter)	SMARCAL1 (C241*)	Single nucleotide variant (nonsense)	Steroid-resistant nephrotic syndrome +9 more	GPathogenic
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 293848	NM_014625.4(NPHS2):c.652G>A (p.Val218Met)	NPHS2 (V218M)	Single nucleotide variant (missense variant +1 more)	Steroid-resistant nephrotic syndrome	GUncertain significance
Select item 293846	NM_014625.4(NPHS2):c.874-11_874-10del	AXDND1, NPHS2	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 277678	NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly)	APOL1 (S358G +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity; risk factor
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 260431	NM_014625.4(NPHS2):c.87C>G (p.Ala29=)	NPHS2	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 2 +3 more	GConflicting classifications of pathogenicity
Select item 260430	NM_014625.4(NPHS2):c.873+7A>G	AXDND1, NPHS2	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 2 +3 more	GBenign/Likely benign
Select item 260429	NM_014625.4(NPHS2):c.725C>T (p.Ala242Val)	NPHS2 (A242V)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +3 more	GConflicting classifications of pathogenicity
Select item 260426	NM_014625.4(NPHS2):c.288C>T (p.Ser96=)	NPHS2	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 2 +2 more	GBenign/Likely benign
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 260424	NM_014625.4(NPHS2):c.102A>G (p.Gly34=)	NPHS2	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 2 +2 more	GBenign
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 188823	NM_014625.4(NPHS2):c.855_856del (p.Arg286fs)	AXDND1, NPHS2 (R286fs +1 more)	Deletion (frameshift variant +1 more)	Focal segmental glomerulosclerosis +3 more	GPathogenic/Likely pathogenic
Select item 188730	NM_014625.4(NPHS2):c.503G>A (p.Arg168His)	NPHS2 (R168H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 180701	NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs)	CRB2 (G1036fs)	Duplication (frameshift variant +1 more)	CRB2-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 180700	NM_173689.7(CRB2):c.1882C>T (p.Arg628Cys)	CRB2 (R628C)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis 9 +1 more	GPathogenic/Likely pathogenic
Select item 156297	NM_000278.5(PAX2):c.76dup (p.Val26fs)	PAX2 (V26fs +1 more)	Duplication (frameshift variant)	not provided +3 more	GPathogenic
Select item 127198	NM_003661.4(APOL1):c.1152T>G (p.Ile384Met)	APOL1 (I400M +2 more)	Single nucleotide variant (missense variant)	APOL1-associated kidney disease +3 more	GConflicting classifications of pathogenicity; risk factor
Select item 56507	NM_004646.4(NPHS1):c.500C>T (p.Pro167Leu)	NPHS1 (P167L)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +3 more	GLikely pathogenic
Select item 6080	NM_003661.3(APOL1):c.[1024A>G;1152T>G]	APOL1 (I400M +5 more)	Single nucleotide variant (missense variant)	Hyalinosis, Segmental Glomerular	Grisk factor
Select item 5369	NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp)	AXDND1, NPHS2 (R291W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 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)	not provided +1 more	GPathogenic
Select item 5365	NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu)	NPHS2 (P20L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 5361	NM_014625.4(NPHS2):c.412C>T (p.Arg138Ter)	NPHS2 (R138*)	Single nucleotide variant (nonsense)	Idiopathic nephrotic syndrome +3 more	GPathogenic
Select item 5360	NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)	NPHS2 (R138Q)	Single nucleotide variant (missense variant)	See cases +3 more	GPathogenic/Likely pathogenic
Select item 4171	NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter)	SMARCAL1 (E848*)	Single nucleotide variant (nonsense)	Schimke immuno-osseous dysplasia +10 more	GPathogenic
Select item 3487	NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)	WT1 (R250W +9 more)	Single nucleotide variant (missense variant +1 more)	Frasier syndrome +9 more	GPathogenic/Likely pathogenic

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Items: 70