"Baylor Genetics"[submitter] AND "NPHP1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030711	NM_001128178.3(NPHP1):c.1933G>A (p.Ala645Thr)	NPHP1 (A644T +4 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome with renal defect +3 more	GUncertain significance
Select item 2677264	NM_001128178.3(NPHP1):c.1897_1906del (p.Thr633fs)	NPHP1 (T570fs +4 more)	Deletion (frameshift variant +1 more)	Joubert syndrome with renal defect	GLikely pathogenic
Select item 854715	NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter)	NPHP1 (W629* +4 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome with renal defect +3 more	GPathogenic/Likely pathogenic
Select item 2677258	NM_001128178.3(NPHP1):c.1767_1770del (p.Asp589fs)	NPHP1 (D526fs +4 more)	Deletion (frameshift variant +1 more)	Joubert syndrome with renal defect	GLikely pathogenic
Select item 2677281	NM_001128178.3(NPHP1):c.1724G>A (p.Trp575Ter)	NPHP1 (W512* +4 more)	Single nucleotide variant (nonsense)	Joubert syndrome with renal defect	GLikely pathogenic
Select item 2677265	NM_001128178.3(NPHP1):c.1717-1dup	NPHP1	Duplication (splice acceptor variant)	Joubert syndrome with renal defect	GLikely pathogenic
Select item 3507	NM_001128178.3(NPHP1):c.1716+1G>T	NPHP1	Single nucleotide variant (splice donor variant)	Joubert syndrome with renal defect +1 more	GPathogenic
Select item 1032959	NM_001128178.3(NPHP1):c.1708G>A (p.Ala570Thr)	NPHP1 (A570T +4 more)	Single nucleotide variant (missense variant)	Joubert syndrome with renal defect +2 more	GUncertain significance
Select item 2677278	NM_001128178.3(NPHP1):c.1643-1G>C	NPHP1	Single nucleotide variant (splice acceptor variant)	Joubert syndrome with renal defect	GLikely pathogenic
Select item 2677260	NM_001128178.3(NPHP1):c.1643-2A>G	NPHP1	Single nucleotide variant (splice acceptor variant)	Joubert syndrome with renal defect	GLikely pathogenic
Select item 1030710	NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter)	NPHP1 (R530* +4 more)	Single nucleotide variant (nonsense)	Joubert syndrome with renal defect +3 more	GPathogenic
Select item 595558	NM_001128178.3(NPHP1):c.1551del (p.Ile517fs)	NPHP1 (I454fs +4 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 2677277	NM_001128178.3(NPHP1):c.1431_1432insTACCA (p.His478fs)	NPHP1 (H415fs +4 more)	Insertion (frameshift variant)	Joubert syndrome with renal defect	GLikely pathogenic
Select item 1075465	NM_001128178.3(NPHP1):c.1379dup (p.Thr461fs)	NPHP1 (T398fs +4 more)	Duplication (frameshift variant)	Joubert syndrome with renal defect +1 more	GPathogenic/Likely pathogenic
Select item 2677282	NM_001128178.3(NPHP1):c.1352+2T>G	NPHP1	Single nucleotide variant (splice donor variant)	Joubert syndrome with renal defect	GLikely pathogenic
Select item 2677271	NM_001128178.3(NPHP1):c.1323del (p.Phe441fs)	NPHP1 (F378fs +4 more)	Deletion (frameshift variant)	Joubert syndrome with renal defect	GLikely pathogenic
Select item 3239953	NM_001128178.3(NPHP1):c.1318del (p.Leu440fs)	NPHP1 (L377fs +4 more)	Deletion (frameshift variant)	Joubert syndrome with renal defect	GLikely pathogenic
Select item 2677256	NM_001128178.3(NPHP1):c.1305G>A (p.Trp435Ter)	NPHP1 (W372* +4 more)	Single nucleotide variant (nonsense)	Joubert syndrome with renal defect	GLikely pathogenic
Select item 3239949	NM_001128178.3(NPHP1):c.1304G>A (p.Trp435Ter)	NPHP1 (W372* +4 more)	Single nucleotide variant (nonsense)	Joubert syndrome with renal defect	GLikely pathogenic
Select item 2677266	NM_001128178.3(NPHP1):c.1271C>G (p.Ser424Ter)	NPHP1 (S361* +4 more)	Single nucleotide variant (nonsense)	Joubert syndrome with renal defect	GLikely pathogenic
Select item 1076772	NM_001128178.3(NPHP1):c.1270-1G>A	NPHP1	Single nucleotide variant (splice acceptor variant)	Nephronophthisis +2 more	GPathogenic
Select item 2677267	NM_001128178.3(NPHP1):c.1270-2A>G	NPHP1	Single nucleotide variant (splice acceptor variant)	Nephronophthisis +1 more	GPathogenic/Likely pathogenic
Select item 2677269	NM_001128178.3(NPHP1):c.1190del (p.Gly397fs)	NPHP1 (G334fs +4 more)	Deletion (frameshift variant)	Joubert syndrome with renal defect	GLikely pathogenic
Select item 2677275	NM_001128178.3(NPHP1):c.1157del (p.Gln386fs)	NPHP1, LOC126806306 (Q323fs +4 more)	Deletion (frameshift variant)	Joubert syndrome with renal defect	GLikely pathogenic
Select item 3239951	NM_001128178.3(NPHP1):c.1156C>T (p.Gln386Ter)	NPHP1, LOC126806306 (Q323* +4 more)	Single nucleotide variant (nonsense)	Joubert syndrome with renal defect	GLikely pathogenic
Select item 1444725	NM_001128178.3(NPHP1):c.1130del (p.Lys377fs)	LOC126806306, NPHP1 (K377fs +4 more)	Deletion (frameshift variant)	Nephronophthisis +1 more	GPathogenic
Select item 2677276	NM_001128178.3(NPHP1):c.1084-2A>C	LOC126806306, NPHP1	Single nucleotide variant (splice acceptor variant)	Joubert syndrome with renal defect	GLikely pathogenic
Select item 2445937	NM_001128178.3(NPHP1):c.1083+1G>A	NPHP1	Single nucleotide variant (splice donor variant)	Joubert syndrome and related disorders +1 more	GLikely pathogenic
Select item 2677273	NM_001128178.3(NPHP1):c.1064_1067del (p.Cys355fs)	NPHP1 (C292fs +4 more)	Deletion (frameshift variant)	Joubert syndrome with renal defect	GLikely pathogenic
Select item 92716	NM_001128178.3(NPHP1):c.1016dup (p.Leu340fs)	NPHP1 (L277fs +4 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2677268	NM_001128178.3(NPHP1):c.958del (p.Arg320fs)	NPHP1 (R257fs +4 more)	Deletion (frameshift variant)	Joubert syndrome with renal defect	GLikely pathogenic
Select item 287345	NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile)	NPHP1 (T374I +4 more)	Single nucleotide variant (missense variant)	Nephronophthisis 1 +4 more	GConflicting classifications of pathogenicity
Select item 2677272	NM_001128178.3(NPHP1):c.935G>A (p.Trp312Ter)	NPHP1 (W249* +4 more)	Single nucleotide variant (nonsense)	Joubert syndrome with renal defect	GLikely pathogenic
Select item 2677262	NM_001128178.3(NPHP1):c.882C>A (p.Tyr294Ter)	NPHP1 (Y231* +4 more)	Single nucleotide variant (nonsense)	Joubert syndrome with renal defect	GPathogenic
Select item 579607	NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter)	NPHP1 (R347* +4 more)	Single nucleotide variant (nonsense)	Nephronophthisis 1 +4 more	GPathogenic
Select item 3510	NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)	NPHP1 (G343R +4 more)	Single nucleotide variant (missense variant)	Nephronophthisis +4 more	GPathogenic
Select item 2677284	NM_001128178.3(NPHP1):c.842C>G (p.Ser281Ter)	NPHP1 (S218* +4 more)	Single nucleotide variant (nonsense)	Joubert syndrome with renal defect	GLikely pathogenic
Select item 935283	NM_001128178.3(NPHP1):c.771+169G>T	NPHP1	Single nucleotide variant (intron variant +1 more)	Nephronophthisis +4 more	GConflicting classifications of pathogenicity
Select item 2677279	NM_001128178.3(NPHP1):c.771+124C>T	NPHP1 (Q299*)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis +1 more	GPathogenic/Likely pathogenic
Select item 2171349	NM_001128178.3(NPHP1):c.771+58C>T	NPHP1 (R277*)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome with renal defect +1 more	GPathogenic/Likely pathogenic
Select item 2677285	NM_001128178.3(NPHP1):c.738_739del (p.His247fs)	NPHP1 (H185fs +1 more)	Deletion (frameshift variant)	Joubert syndrome with renal defect	GLikely pathogenic
Select item 1503211	NM_001128178.3(NPHP1):c.729-2A>G	NPHP1	Single nucleotide variant (splice acceptor variant)	Joubert syndrome with renal defect +3 more	GLikely pathogenic
Select item 2677263	NM_001128178.3(NPHP1):c.724C>T (p.Gln242Ter)	NPHP1 (Q180* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome with renal defect	GLikely pathogenic
Select item 838041	NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter)	NPHP1 (E153* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome with renal defect +3 more	GPathogenic/Likely pathogenic
Select item 2677261	NM_001128178.3(NPHP1):c.625-2A>G	NPHP1	Single nucleotide variant (splice acceptor variant)	Joubert syndrome with renal defect	GPathogenic
Select item 283524	NM_001128178.3(NPHP1):c.555dup (p.Pro186fs)	NPHP1 (P186fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases +4 more	GPathogenic
Select item 638899	NM_001128178.3(NPHP1):c.555del (p.Lys185fs)	NPHP1 (K185fs +1 more)	Deletion (frameshift variant)	Nephronophthisis +1 more	GPathogenic
Select item 1070446	NM_001128178.3(NPHP1):c.483del (p.Asp162fs)	NPHP1 (D100fs +1 more)	Deletion (frameshift variant)	Nephronophthisis 1 +4 more	GPathogenic/Likely pathogenic
Select item 3239952	NM_001128178.3(NPHP1):c.385_386del (p.Ser129fs)	NPHP1 (S129fs +1 more)	Deletion (frameshift variant)	Joubert syndrome with renal defect	GLikely pathogenic
Select item 286936	NM_001128178.3(NPHP1):c.329+1G>A	NPHP1	Single nucleotide variant (intron variant +1 more)	Joubert syndrome with renal defect +5 more	GPathogenic/Likely pathogenic
Select item 3239950	NM_001128178.3(NPHP1):c.182del (p.Asn61fs)	NPHP1 (N61fs)	Deletion (frameshift variant +1 more)	Joubert syndrome with renal defect	GLikely pathogenic
Select item 2677259	NM_001128178.3(NPHP1):c.151C>T (p.Gln51Ter)	NPHP1 (Q51*)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome with renal defect	GLikely pathogenic
Select item 1704492	NM_001128178.3(NPHP1):c.144-1G>A	NPHP1	Single nucleotide variant (intron variant +1 more)	Joubert syndrome with renal defect +2 more	GLikely pathogenic
Select item 2677280	NM_001128178.3(NPHP1):c.141_143+40del	NPHP1	Deletion (splice donor variant)	Joubert syndrome with renal defect +1 more	GLikely pathogenic
Select item 1467632	NM_001128178.3(NPHP1):c.143+1G>C	NPHP1	Single nucleotide variant (splice donor variant)	Nephronophthisis 1 +3 more	GLikely pathogenic
Select item 2677257	NM_001128178.3(NPHP1):c.139C>T (p.Gln47Ter)	NPHP1 (Q47*)	Single nucleotide variant (nonsense)	Joubert syndrome with renal defect	GLikely pathogenic
Select item 2677274	NM_001128178.3(NPHP1):c.127C>T (p.Gln43Ter)	NPHP1 (Q43*)	Single nucleotide variant (nonsense)	Nephronophthisis +1 more	GPathogenic/Likely pathogenic
Select item 2677283	NM_001128178.3(NPHP1):c.69+1G>T	NPHP1	Single nucleotide variant (splice donor variant)	Joubert syndrome with renal defect	GLikely pathogenic
Select item 2677270	NM_001128178.3(NPHP1):c.69+1del	NPHP1	Deletion (splice donor variant)	Nephronophthisis +1 more	GPathogenic/Likely pathogenic
Select item 625824	GRCh37/hg19 2q13(chr2:110862477-110983703)	MALL, NPHP1	Copy number loss	Nephronophthisis 1	GPathogenic
Select item 625547	GRCh37/hg19 2q13(chr2:110824957-110983703)	MALL, NPHP1	Copy number loss	Hereditary liability to pressure palsies	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 61