"Eurofins Ntd Llc (ga)"[submitter] AND "NPHP1"[gene] - ClinVar

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Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 502508	NM_001128178.3(NPHP1):c.*1C>T	NPHP1	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 219983	NM_001128178.3(NPHP1):c.1950G>A (p.Leu650=)	NPHP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 330727	NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=)	NPHP1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome with renal defect +4 more	GUncertain significance
Select item 216417	NM_001128178.3(NPHP1):c.1913A>G (p.Gln638Arg)	NPHP1 (Q694R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 502793	NM_001128178.3(NPHP1):c.1860AGA[2] (p.Glu623del)	NPHP1 (E679del +4 more)	Microsatellite (inframe_deletion +1 more)	Nephronophthisis 1 +3 more	GUncertain significance
Select item 216416	NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln)	NPHP1 (E677Q +4 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome with renal defect +6 more	GConflicting classifications of pathogenicity
Select item 500247	NM_001128178.3(NPHP1):c.1838G>A (p.Arg613His)	NPHP1 (R669H +4 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 500650	NM_001128178.3(NPHP1):c.1837C>T (p.Arg613Cys)	NPHP1 (R669C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 288529	NM_001128178.3(NPHP1):c.1787C>T (p.Thr596Met)	NPHP1 (T652M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 498028	NM_001128178.3(NPHP1):c.1716+7A>G	NPHP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 595047	NM_001128178.3(NPHP1):c.1643-3C>T	NPHP1	Single nucleotide variant (intron variant)	not provided +4 more	GUncertain significance
Select item 594981	NM_001128178.3(NPHP1):c.1613T>C (p.Leu538Pro)	NPHP1 (L594P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 598647	NM_001128178.3(NPHP1):c.1591C>G (p.Gln531Glu)	NPHP1 (Q587E +4 more)	Single nucleotide variant (missense variant)	Joubert syndrome with renal defect +4 more	GUncertain significance
Select item 92718	NM_001128178.3(NPHP1):c.1587T>C (p.Tyr529=)	NPHP1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 594939	NM_001128178.3(NPHP1):c.1558A>G (p.Met520Val)	NPHP1 (M576V +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 595558	NM_001128178.3(NPHP1):c.1551del (p.Ile517fs)	NPHP1 (I454fs +4 more)	Deletion (frameshift variant)	Joubert syndrome with renal defect +5 more	GPathogenic
Select item 597137	NM_001128178.3(NPHP1):c.1541A>G (p.Glu514Gly)	NPHP1 (E570G +4 more)	Single nucleotide variant (missense variant)	Joubert syndrome with renal defect +4 more	GUncertain significance
Select item 598459	NM_001128178.3(NPHP1):c.1531C>T (p.Leu511=)	NPHP1	Single nucleotide variant (synonymous variant)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 462707	NM_001128178.3(NPHP1):c.1530-10del	NPHP1	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 330730	NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys)	NPHP1 (R546K +4 more)	Single nucleotide variant (missense variant)	Nephronophthisis 1 +5 more	GConflicting classifications of pathogenicity
Select item 596605	NM_001128178.3(NPHP1):c.1448A>G (p.Tyr483Cys)	NPHP1 (Y539C +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 598209	NM_001128178.3(NPHP1):c.1430-8C>G	NPHP1	Single nucleotide variant (intron variant)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 596241	NM_001128178.3(NPHP1):c.1429+9C>G	NPHP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 502053	NM_001128178.3(NPHP1):c.1429+7C>T	NPHP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 501727	NM_001128178.3(NPHP1):c.1419A>G (p.Ile473Met)	NPHP1 (I529M +4 more)	Single nucleotide variant (missense variant)	Nephronophthisis +4 more	GConflicting classifications of pathogenicity
Select item 194327	NM_001128178.3(NPHP1):c.1270-4C>T	NPHP1	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 255706	NM_001128178.3(NPHP1):c.1269+9G>A	NPHP1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 330732	NM_001128178.3(NPHP1):c.1165C>T (p.Arg389Cys)	NPHP1 (R445C +4 more)	Single nucleotide variant (missense variant)	Nephronophthisis 1 +4 more	GUncertain significance
Select item 291247	NM_001128178.3(NPHP1):c.1141T>G (p.Trp381Gly)	NPHP1, LOC126806306 (W437G +4 more)	Single nucleotide variant (missense variant)	NPHP1-related disorder +4 more	GUncertain significance
Select item 594173	NM_001128178.3(NPHP1):c.1096A>G (p.Ile366Val)	LOC126806306, NPHP1 (I422V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593284	NM_001128178.3(NPHP1):c.1058G>A (p.Arg353His)	NPHP1 (R409H +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 92716	NM_001128178.3(NPHP1):c.1016dup (p.Leu340fs)	NPHP1 (L277fs +4 more)	Duplication (frameshift variant)	Nephronophthisis +2 more	GPathogenic/Likely pathogenic
Select item 595046	NM_001128178.3(NPHP1):c.1016C>G (p.Pro339Arg)	NPHP1 (P395R +4 more)	Single nucleotide variant (missense variant)	Joubert syndrome with renal defect +4 more	GUncertain significance
Select item 193804	NM_001128178.3(NPHP1):c.986T>C (p.Ile329Thr)	NPHP1 (I385T +4 more)	Single nucleotide variant (missense variant)	Nephronophthisis 1 +4 more	GUncertain significance
Select item 287345	NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile)	NPHP1 (T374I +4 more)	Single nucleotide variant (missense variant)	Nephronophthisis +4 more	GConflicting classifications of pathogenicity
Select item 593672	NM_001128178.3(NPHP1):c.949G>A (p.Gly317Ser)	NPHP1 (G373S +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 193568	NM_001128178.3(NPHP1):c.941C>G (p.Ala314Gly)	NPHP1 (A370G +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 193570	NM_001128178.3(NPHP1):c.912A>G (p.Gln304=)	NPHP1	Single nucleotide variant (synonymous variant)	Nephronophthisis +4 more	GConflicting classifications of pathogenicity
Select item 598258	NM_001128178.3(NPHP1):c.903G>A (p.Met301Ile)	NPHP1 (M357I +4 more)	Single nucleotide variant (missense variant)	Nephronophthisis +1 more	GUncertain significance
Select item 502368	NM_001128178.3(NPHP1):c.898C>T (p.Leu300Phe)	NPHP1 (L356F +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193569	NM_001128178.3(NPHP1):c.867A>G (p.Gln289=)	NPHP1	Single nucleotide variant (synonymous variant)	Joubert syndrome with renal defect +4 more	GConflicting classifications of pathogenicity
Select item 502699	NM_001128178.3(NPHP1):c.859+5T>C	NPHP1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3510	NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)	NPHP1 (G343R +4 more)	Single nucleotide variant (missense variant)	Nephronophthisis 1 +7 more	GPathogenic
Select item 596279	NM_001128178.3(NPHP1):c.843_845delinsGCT (p.Gln282Leu)	NPHP1 (Q219L +4 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 501325	NM_001128178.3(NPHP1):c.836C>T (p.Thr279Met)	NPHP1 (T335M +4 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 290380	NM_001128178.3(NPHP1):c.811A>G (p.Ile271Val)	NPHP1 (I327V +4 more)	Single nucleotide variant (missense variant)	Nephronophthisis +4 more	GUncertain significance
Select item 500559	NM_001128178.3(NPHP1):c.805G>A (p.Gly269Arg)	NPHP1 (G325R +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 288369	NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr)	NPHP1 (M324T +4 more)	Single nucleotide variant (missense variant)	Nephronophthisis +4 more	GConflicting classifications of pathogenicity
Select item 330734	NM_001128178.3(NPHP1):c.801G>A (p.Thr267=)	NPHP1	Single nucleotide variant (synonymous variant)	Nephronophthisis +4 more	GConflicting classifications of pathogenicity
Select item 597068	NM_001128178.3(NPHP1):c.790G>A (p.Val264Met)	NPHP1 (V320M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 498608	NM_001128178.3(NPHP1):c.772-5T>C	NPHP1	Single nucleotide variant (intron variant)	Nephronophthisis +4 more	GConflicting classifications of pathogenicity
Select item 497623	NM_001128178.3(NPHP1):c.772-9T>C	NPHP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 199003	NM_001128178.3(NPHP1):c.772-17G>A	NPHP1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 198704	NM_001128178.3(NPHP1):c.771+134G>A	NPHP1 (G302E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 330735	NM_001128178.3(NPHP1):c.771+89A>G	NPHP1 (N287S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 198703	NM_001128178.3(NPHP1):c.771+59G>A	NPHP1 (R277Q)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +5 more	GBenign/Likely benign
Select item 255709	NM_001128178.3(NPHP1):c.771+58C>A	NPHP1	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +2 more	GConflicting classifications of pathogenicity
Select item 129815	NM_001128178.3(NPHP1):c.771+39C>T	NPHP1	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 1 +5 more	GBenign
Select item 411114	NM_001128178.3(NPHP1):c.771+38G>T	NPHP1 (C270F)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +2 more	GUncertain significance
Select item 594836	NM_001128178.3(NPHP1):c.771+33G>A	NPHP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 598700	NM_001128178.3(NPHP1):c.771+3G>A	NPHP1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome with renal defect +4 more	GConflicting classifications of pathogenicity
Select item 92720	NM_001128178.3(NPHP1):c.771+2C>T	NPHP1 (A258V)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 502168	NM_001128178.3(NPHP1):c.728+9G>A	NPHP1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 598468	NM_001128178.3(NPHP1):c.712G>T (p.Ala238Ser)	NPHP1 (A238S +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome with renal defect +3 more	GUncertain significance
Select item 92719	NM_001128178.3(NPHP1):c.654G>A (p.Glu218=)	NPHP1	Single nucleotide variant (synonymous variant)	Nephronophthisis +5 more	GBenign
Select item 198410	NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup)	NPHP1	Microsatellite (inframe_insertion)	Nephronophthisis 1 +6 more	GConflicting classifications of pathogenicity
Select item 156395	NM_000272.3(NPHP1):c.625-3dup	NPHP1	Duplication (intron variant)	Nephronophthisis +4 more	GConflicting classifications of pathogenicity
Select item 291282	NM_001128178.3(NPHP1):c.619C>G (p.Leu207Val)	NPHP1 (L207V +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis +2 more	GUncertain significance
Select item 283524	NM_001128178.3(NPHP1):c.555dup (p.Pro186fs)	NPHP1 (P186fs +1 more)	Duplication (frameshift variant)	Nephronophthisis +5 more	GPathogenic
Select item 597985	NM_001128178.3(NPHP1):c.555A>G (p.Lys185=)	NPHP1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 498548	NM_001128178.3(NPHP1):c.493G>A (p.Ala165Thr)	NPHP1 (A165T +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 502565	NM_001128178.3(NPHP1):c.474C>T (p.Ile158=)	NPHP1	Single nucleotide variant (synonymous variant)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 594808	NM_001128178.3(NPHP1):c.460G>A (p.Gly154Ser)	NPHP1 (G154S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 595361	NM_001128178.3(NPHP1):c.439G>A (p.Glu147Lys)	NPHP1 (E147K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 197652	NM_001128178.3(NPHP1):c.415GAAGAG[1] (p.Glu141_Glu142del)	NPHP1	Microsatellite (inframe_deletion)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 595311	NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter)	NPHP1 (E139* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome with renal defect +4 more	GPathogenic/Likely pathogenic
Select item 497957	NM_001128178.3(NPHP1):c.385_387del (p.Ser129del)	NPHP1 (S129del +1 more)	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 595404	NM_001128178.3(NPHP1):c.336G>A (p.Gly112=)	NPHP1	Single nucleotide variant (synonymous variant)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 197653	NM_001128178.3(NPHP1):c.330-4G>A	NPHP1	Single nucleotide variant (intron variant)	Nephronophthisis 1 +4 more	GConflicting classifications of pathogenicity
Select item 286936	NM_001128178.3(NPHP1):c.329+1G>A	NPHP1	Single nucleotide variant (intron variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 596843	NM_001128178.3(NPHP1):c.308T>C (p.Ile103Thr)	NPHP1 (I103T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 167377	NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)	NPHP1 (Y78H)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 498160	NM_001128178.3(NPHP1):c.210T>C (p.Asp70=)	NPHP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 498438	NM_001128178.3(NPHP1):c.205-3T>C	NPHP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 497410	NM_001128178.3(NPHP1):c.202A>C (p.Lys68Gln)	NPHP1 (K68Q)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +4 more	GUncertain significance
Select item 287188	NM_001128178.3(NPHP1):c.184G>A (p.Ala62Thr)	NPHP1 (A62T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 92717	NM_001128178.3(NPHP1):c.133A>C (p.Ile45Leu)	NPHP1 (I45L)	Single nucleotide variant (missense variant)	Kidney disorder +3 more	GBenign/Likely benign
Select item 129813	NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr)	NPHP1 (P39T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +6 more	GBenign
Select item 595679	NM_001128178.3(NPHP1):c.102A>G (p.Lys34=)	NPHP1	Single nucleotide variant (synonymous variant)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 499231	NM_001128178.3(NPHP1):c.61A>G (p.Lys21Glu)	NPHP1 (K21E)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 291242	NM_001128178.3(NPHP1):c.50A>G (p.Asn17Ser)	NPHP1 (N17S)	Single nucleotide variant (missense variant)	Nephronophthisis +4 more	GUncertain significance
Select item 129814	NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu)	NPHP1 (R5L)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 499365	NM_001128178.3(NPHP1):c.6G>C (p.Leu2=)	NPHP1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

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Items: 93