C0017668[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 220304	NM_015102.5(NPHP4):c.3479C>T (p.Pro1160Leu)	NPHP4 (P1160L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign
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 260429	NM_014625.4(NPHS2):c.725C>T (p.Ala242Val)	NPHS2 (A242V)	Single nucleotide variant (missense variant +1 more)	not specified +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)	not specified +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 260431	NM_014625.4(NPHS2):c.87C>G (p.Ala29=)	NPHS2	Single nucleotide variant (synonymous variant)	NPHS2-related condition +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)	not specified +4 more	GBenign
Select item 242409	NM_014625.4(NPHS2):c.-52C>G	NPHS2	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis +2 more	GBenign
Select item 16550	NM_000186.4(CFH):c.184G>A (p.Val62Ile)	CFH (V62I)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign
Select item 294498	NM_000186.4(CFH):c.2016A>G (p.Gln672=)	CFH	Single nucleotide variant (synonymous variant)	Age related macular degeneration 4 +6 more	GBenign
Select item 294509	NM_000186.4(CFH):c.2808G>T (p.Glu936Asp)	CFH (E936D)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +6 more	GBenign
Select item 97918	NM_001243133.2(NLRP3):c.1231C>T (p.Leu411=)	NLRP3	Single nucleotide variant (synonymous variant)	Familial amyloid nephropathy with urticaria AND deafness +7 more	GBenign
Select item 259561	NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys)	NLRP3 (Q705K +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 129813	NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr)	NPHP1 (P39T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +5 more	GBenign
Select item 260344	NM_014140.4(SMARCAL1):c.423T>C (p.Tyr141=)	SMARCAL1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 197799	NM_014140.4(SMARCAL1):c.945C>G (p.Ser315Arg)	SMARCAL1 (S315R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 198202	NM_014140.4(SMARCAL1):c.1129G>C (p.Glu377Gln)	SMARCAL1 (E377Q)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 463145	NM_014140.4(SMARCAL1):c.1243A>G (p.Ser415Gly)	SMARCAL1 (S415G)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia +1 more	GBenign
Select item 260339	NM_014140.4(SMARCAL1):c.1947C>T (p.Asp649=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia +3 more	GBenign/Likely benign
Select item 4171	NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter)	SMARCAL1 (E848*)	Single nucleotide variant (nonsense)	not provided +10 more	GPathogenic
Select item 334703	NM_000092.5(COL4A4):c.4656G>A (p.Met1552Ile)	COL4A4 (M1552I)	Single nucleotide variant (missense variant)	Alport syndrome +3 more	GBenign
Select item 255030	NM_000092.5(COL4A4):c.3486A>G (p.Pro1162=)	COL4A4	Single nucleotide variant (synonymous variant)	Alport syndrome +3 more	GBenign/Likely benign
Select item 334710	NM_000092.5(COL4A4):c.3233C>T (p.Ala1078Val)	COL4A4 (A1078V)	Single nucleotide variant (missense variant)	Alport syndrome +3 more	GBenign
Select item 255025	NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val)	COL4A4 (I967V)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 255024	NM_000092.5(COL4A4):c.2717-5A>T	COL4A4	Single nucleotide variant (intron variant)	Benign familial hematuria +6 more	GConflicting classifications of pathogenicity
Select item 334721	NM_000092.5(COL4A4):c.2367A>T (p.Gly789=)	COL4A4	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 255018	NM_000092.5(COL4A4):c.2008G>A (p.Val670Ile)	COL4A4 (V670I)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +5 more	GBenign/Likely benign
Select item 334729	NM_000092.5(COL4A4):c.1821G>A (p.Ala607=)	COL4A4	Single nucleotide variant (synonymous variant)	Alport syndrome +3 more	GBenign
Select item 255013	NM_000092.5(COL4A4):c.1323T>C (p.Pro441=)	COL4A4	Single nucleotide variant (synonymous variant)	Alport syndrome +3 more	GBenign/Likely benign
Select item 334732	NM_000092.5(COL4A4):c.948T>C (p.Tyr316=)	COL4A4	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 255008	NM_000091.5(COL4A3):c.88-4C>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Alport syndrome +3 more	GBenign
Select item 254994	NM_000091.5(COL4A3):c.346C>A (p.Pro116Thr)	COL4A3, MFF-DT (P116T)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 334756	NM_000091.5(COL4A3):c.399G>A (p.Gly133=)	MFF-DT, COL4A3	Single nucleotide variant (synonymous variant)	Alport syndrome +5 more	GBenign
Select item 254979	NM_000091.5(COL4A3):c.1352A>G (p.His451Arg)	COL4A3, MFF-DT (H451R)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 254987	NM_000091.5(COL4A3):c.2501A>G (p.Lys834Arg)	COL4A3, MFF-DT (K834R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 258615	NM_002292.4(LAMB2):c.5293G>A (p.Ala1765Thr)	LAMB2 (A1765T)	Single nucleotide variant (missense variant)	Pierson syndrome +4 more	GBenign/Likely benign
Select item 258612	NM_002292.4(LAMB2):c.4774C>T (p.Arg1592Trp)	LAMB2 (R1592W)	Single nucleotide variant (missense variant)	Pierson syndrome +4 more	GBenign/Likely benign
Select item 902789	NM_002292.4(LAMB2):c.4149C>A (p.His1383Gln)	LAMB2 (H1383Q)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GUncertain significance
Select item 539743	NM_002292.4(LAMB2):c.3645G>A (p.Ala1215=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +3 more	GConflicting classifications of pathogenicity
Select item 258604	NM_002292.4(LAMB2):c.2673C>T (p.Gly891=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +4 more	GBenign/Likely benign
Select item 258603	NM_002292.4(LAMB2):c.2307C>T (p.Leu769=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 472493	NM_002292.4(LAMB2):c.510C>T (p.Arg170=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +2 more	GBenign/Likely benign
Select item 96512	NM_153240.5(NPHP3):c.2571-7T>C	NPHP3-ACAD11, NPHP3	Single nucleotide variant (intron variant)	Nephronophthisis +5 more	GBenign/Likely benign
Select item 347158	NM_000204.5(CFI):c.1217G>A (p.Arg406His)	CFI (R406H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 16076	NM_001710.5(CFB):c.94C>T (p.Arg32Trp)	C2, CFB (R32W)	Single nucleotide variant (missense variant)	not provided +8 more	GBenign/Likely benign
Select item 16075	NM_001710.5(CFB):c.95G>A (p.Arg32Gln)	C2, CFB (R32Q)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 356287	NM_001710.6(CFB):c.1365C>T (p.Val455=)	C2, CFB	Single nucleotide variant (synonymous variant)	Complement component 2 deficiency +5 more	GBenign/Likely benign
Select item 357159	NM_012120.3(CD2AP):c.-167_-165del	CD2AP	Deletion (5 prime UTR variant)	Focal segmental glomerulosclerosis	GLikely benign
Select item 357161	NM_012120.3(CD2AP):c.-55_-54insAGG	CD2AP	Insertion (5 prime UTR variant)	Focal segmental glomerulosclerosis	GLikely benign
Select item 357163	NM_012120.3(CD2AP):c.-4dup	CD2AP	Duplication (5 prime UTR variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 260189	NM_012120.3(CD2AP):c.219A>G (p.Glu73=)	CD2AP	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 260191	NM_012120.3(CD2AP):c.696C>T (p.Ser232=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 260180	NM_012120.3(CD2AP):c.1120A>G (p.Thr374Ala)	CD2AP (T374A)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 357176	NM_012120.3(CD2AP):c.1569AGA[2] (p.Glu525del)	CD2AP (E525del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 260188	NM_012120.3(CD2AP):c.1898A>G (p.Lys633Arg)	CD2AP (K633R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 357183	NM_012120.3(CD2AP):c.*367del	CD2AP	Deletion (3 prime UTR variant)	Focal segmental glomerulosclerosis	GBenign
Select item 357184	NM_012120.3(CD2AP):c.451_452insGT	CD2AP	Insertion (3 prime UTR variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 357185	NM_012120.3(CD2AP):c.452_455del	CD2AP	Deletion (3 prime UTR variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 357188	NM_012120.3(CD2AP):c.*454GT[24]	CD2AP	Microsatellite (3 prime UTR variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 357187	NM_012120.3(CD2AP):c.*454GT[23]	CD2AP	Microsatellite (3 prime UTR variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 357186	NM_012120.3(CD2AP):c.*454GT[22]	CD2AP	Microsatellite (3 prime UTR variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 357192	NM_012120.3(CD2AP):c.*454GT[18]	CD2AP	Microsatellite (3 prime UTR variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 357191	NM_012120.3(CD2AP):c.*454GT[19]	CD2AP	Microsatellite (3 prime UTR variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 357190	NM_012120.3(CD2AP):c.*454GT[20]	CD2AP	Microsatellite (3 prime UTR variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 357193	NM_012120.3(CD2AP):c.*490G>A	CD2AP	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 357194	NM_012120.3(CD2AP):c.492_497del	CD2AP	Deletion (3 prime UTR variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 357197	NM_012120.3(CD2AP):c.494_503del	CD2AP	Deletion (3 prime UTR variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 357196	NM_012120.3(CD2AP):c.494_499del	CD2AP	Deletion (3 prime UTR variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 357200	NM_012120.3(CD2AP):c.495_496insGTGTAT	CD2AP	Insertion (3 prime UTR variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 357199	NM_012120.3(CD2AP):c.495_496insGTAT	CD2AP	Insertion (3 prime UTR variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 357202	NM_012120.3(CD2AP):c.*496AT[5]	CD2AP	Microsatellite (3 prime UTR variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 357201	NM_012120.3(CD2AP):c.*496AT[7]	CD2AP	Microsatellite (3 prime UTR variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 357207	NM_012120.3(CD2AP):c.496_504delinsGTGTG	CD2AP	Indel (3 prime UTR variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 357206	NM_012120.3(CD2AP):c.496_502delinsGTGTGTGTGTG	CD2AP	Indel (3 prime UTR variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 357205	NM_012120.3(CD2AP):c.*496delinsGTGTGTGTGTGTG	CD2AP	Indel (3 prime UTR variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 357204	NM_012120.3(CD2AP):c.*496delinsGTGTGTGTGTG	CD2AP	Indel (3 prime UTR variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 357203	NM_012120.3(CD2AP):c.*496delinsGTGTGTGTG	CD2AP	Indel (3 prime UTR variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 357217	NM_012120.3(CD2AP):c.*1430dup	CD2AP	Duplication (3 prime UTR variant)	Focal segmental glomerulosclerosis	GLikely benign
Select item 357218	NM_012120.3(CD2AP):c.*1466del	CD2AP	Deletion (3 prime UTR variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 357223	NM_012120.3(CD2AP):c.2116_2118del	CD2AP	Deletion (3 prime UTR variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 357225	NM_012120.3(CD2AP):c.*2228dup	CD2AP	Duplication (3 prime UTR variant)	Focal segmental glomerulosclerosis	GBenign
Select item 369565	NM_012120.2(CD2AP):c.*3047G>A	CD2AP	Single nucleotide variant	Focal segmental glomerulosclerosis	GLikely benign
Select item 558967	NM_012434.5(SLC17A5):c.1177G>A (p.Val393Ile)	SLC17A5 (V393I)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 258624	NM_001174147.2(LMX1B):c.432C>T (p.Cys144=)	LMX1B	Single nucleotide variant (synonymous variant)	Nail-patella syndrome +4 more	GBenign/Likely benign
Select item 364879	NM_001174147.2(LMX1B):c.552C>T (p.Ser184=)	LMX1B	Single nucleotide variant (synonymous variant)	Nail-patella syndrome +3 more	GBenign/Likely benign
Select item 258631	NM_001174147.2(LMX1B):c.930G>A (p.Thr310=)	LMX1B	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 260716	NM_016341.4(PLCE1):c.227C>T (p.Ala76Val)	PLCE1 (A76V)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +3 more	GBenign/Likely benign
Select item 260723	NM_016341.4(PLCE1):c.513G>A (p.Val171=)	PLCE1	Single nucleotide variant (synonymous variant)	PLCE1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 260711	NM_016341.4(PLCE1):c.1405T>A (p.Ser469Thr)	PLCE1 (S469T +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +3 more	GBenign/Likely benign
Select item 260712	NM_016341.4(PLCE1):c.1643G>T (p.Arg548Leu)	PLCE1 (R548L +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +3 more	GBenign
Select item 769371	NM_016341.4(PLCE1):c.2999G>A (p.Ser1000Asn)	PLCE1 (S1000N +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +4 more	GConflicting classifications of pathogenicity
Select item 260717	NM_016341.4(PLCE1):c.3132C>T (p.His1044=)	PLCE1	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 3 +3 more	GBenign
Select item 260718	NM_016341.4(PLCE1):c.4059C>T (p.Phe1353=)	PLCE1	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 3 +3 more	GBenign/Likely benign
Select item 260720	NM_016341.4(PLCE1):c.4724G>C (p.Arg1575Pro)	PLCE1, PLCE1-AS1 (R1575P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephrotic syndrome, type 3 +3 more	GBenign
Select item 260724	NM_016341.4(PLCE1):c.5330C>T (p.Thr1777Ile)	PLCE1 (T1777I +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +3 more	GBenign
Select item 260728	NM_016341.4(PLCE1):c.5780A>G (p.His1927Arg)	PLCE1 (H1927R +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +3 more	GBenign
Select item 301737	NM_016341.4(PLCE1):c.*166G>C	NOC3L, PLCE1	Single nucleotide variant (3 prime UTR variant)	Nephrotic syndrome, type 3 +1 more	GBenign
Select item 241476	NM_024426.6(WT1):c.181C>A (p.Arg61=)	LOC107982234, WT1	Single nucleotide variant (synonymous variant +1 more)	not provided +9 more	GBenign/Likely benign
Select item 301884	NM_004621.6(TRPC6):c.710_711insTTTA	TRPC6	Insertion (3 prime UTR variant)	Focal segmental glomerulosclerosis	GBenign

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