ClinVar for MedGen (Select 96045) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1473602	NM_025132.4(WDR19):c.3184-2A>C	WDR19	Single nucleotide variant (splice acceptor variant)	Renal dysplasia and retinal aplasia +2 more	GPathogenic
Select item 1071036	NM_025114.4(CEP290):c.3708dup (p.Arg1237fs)	CEP290 (R1237fs)	Duplication (frameshift variant)	Familial aplasia of the vermis +5 more	GPathogenic/Likely pathogenic
Select item 812430	NM_006642.5(SDCCAG8):c.1714C>T (p.Gln572Ter)	SDCCAG8 (Q474* +3 more)	Single nucleotide variant (nonsense)	Renal dysplasia and retinal aplasia	GPathogenic
Select item 812337	NM_001023570.4(IQCB1):c.1108dup (p.Met370fs)	IQCB1 (M237fs +1 more)	Duplication (frameshift variant +1 more)	Renal dysplasia and retinal aplasia	GPathogenic
Select item 504877	NM_001023570.4(IQCB1):c.1363C>T (p.Arg455Ter)	IQCB1 (R455* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis +1 more	GPathogenic
Select item 449860	NM_024753.5(TTC21B):c.1088-1G>C	TTC21B	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 342791	NM_001023570.3(IQCB1):c.-215C>T	IQCB1	Single nucleotide variant	Renal dysplasia and retinal aplasia	GUncertain significance
Select item 342785	NM_001023570.4(IQCB1):c.-147del	IQCB1	Deletion (5 prime UTR variant +1 more)	Renal dysplasia and retinal aplasia	GUncertain significance
Select item 342784	NM_001023570.4(IQCB1):c.-147_-142del	IQCB1	Deletion (5 prime UTR variant +1 more)	Renal dysplasia and retinal aplasia	GBenign
Select item 342781	NM_001023570.4(IQCB1):c.488-13dup	IQCB1	Duplication (intron variant)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 342773	NM_001023570.4(IQCB1):c.1344A>G (p.Gln448=)	IQCB1	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 330724	NM_001128178.3(NPHP1):c.*333AAC[1]	NPHP1	Microsatellite (3 prime UTR variant)	Renal dysplasia and retinal aplasia +2 more	GUncertain significance
Select item 310631	NM_025114.4(CEP290):c.442-11del	CEP290	Deletion (intron variant)	Familial aplasia of the vermis +5 more	GConflicting classifications of pathogenicity
Select item 310630	NM_025114.4(CEP290):c.442-22_442-21dup	CEP290	Duplication (intron variant)	Meckel-Gruber syndrome +5 more	GConflicting classifications of pathogenicity
Select item 310629	NM_025114.4(CEP290):c.442-22dup	CEP290	Duplication (intron variant)	Meckel-Gruber syndrome +7 more	GConflicting classifications of pathogenicity
Select item 310608	NM_025114.4(CEP290):c.3309+2_3309+3dup	CEP290	Duplication (splice donor variant)	Meckel-Gruber syndrome +4 more	GUncertain significance
Select item 310596	NM_025114.4(CEP290):c.5227-14del	CEP290	Deletion (intron variant)	Meckel-Gruber syndrome +5 more	GConflicting classifications of pathogenicity
Select item 310587	NM_025114.4(CEP290):c.7209+11_7209+14del	CEP290	Deletion (intron variant)	Familial aplasia of the vermis +5 more	GConflicting classifications of pathogenicity
Select item 310583	NM_001009894.3(RLIG1):c.*618TATT[1]	CEP290, RLIG1	Microsatellite (3 prime UTR variant)	Meckel-Gruber syndrome +4 more	GUncertain significance
Select item 297840	NM_015102.4(NPHP4):c.-237G>C	NPHP4	Single nucleotide variant	Nephronophthisis +1 more	GUncertain significance
Select item 297839	NM_015102.4(NPHP4):c.-236C>T	NPHP4	Single nucleotide variant	Nephronophthisis +1 more	GUncertain significance
Select item 297838	NM_015102.4(NPHP4):c.-235G>A	NPHP4	Single nucleotide variant	Renal dysplasia and retinal aplasia +1 more	GUncertain significance
Select item 297837	NM_015102.4(NPHP4):c.-225G>A	NPHP4	Single nucleotide variant	Nephronophthisis +1 more	GUncertain significance
Select item 296922	NM_005465.7(AKT3):c.5155_5159dup	AKT3, SDCCAG8	Duplication (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 296921	NM_006642.5(SDCCAG8):c.*287A>G	AKT3, SDCCAG8	Single nucleotide variant (3 prime UTR variant +1 more)	Renal dysplasia and retinal aplasia +1 more	GUncertain significance
Select item 296920	NM_006642.5(SDCCAG8):c.214_217dup	AKT3, SDCCAG8	Duplication (3 prime UTR variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 296917	NM_005465.7(AKT3):c.5398_5402dup	AKT3, SDCCAG8	Duplication (3 prime UTR variant +1 more)	Renal dysplasia and retinal aplasia +2 more	GConflicting classifications of pathogenicity
Select item 261823	NM_001009894.3(RLIG1):c.743_746del	CEP290, RLIG1	Deletion (3 prime UTR variant)	not provided +6 more	GBenign/Likely benign
Select item 220231	NM_015102.5(NPHP4):c.136-4del	NPHP4	Deletion (intron variant)	Renal dysplasia and retinal aplasia +4 more	GBenign/Likely benign
Select item 220050	NM_025114.4(CEP290):c.2484-18GTTTT[4]	CEP290	Microsatellite (intron variant)	Renal dysplasia and retinal aplasia +7 more	GConflicting classifications of pathogenicity
Select item 198410	NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup)	NPHP1	Microsatellite (inframe_insertion)	Nephronophthisis +6 more	GUncertain significance
Select item 166839	NM_025114.4(CEP290):c.853-12_853-11insG	CEP290	Insertion (intron variant)	Nephronophthisis +11 more	GBenign
Select item 166828	NM_025114.4(CEP290):c.6522+5dup	CEP290	Duplication (intron variant)	Nephronophthisis +11 more	GBenign
Select item 96170	NM_025114.4(CEP290):c.3574-9del	CEP290	Deletion (intron variant)	not specified +11 more	GBenign
Select item 30935	NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)	TTC21B-AS1, TTC21B (P209L)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 30703	NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)	WDR19 (L710S +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GPathogenic
Select item 1830	NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)	IQCB1 (R461* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +4 more	GPathogenic

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Items: 37