ClinVar for MedGen (Select 1639722) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1642210	NM_001128178.3(NPHP1):c.69+20A>G	NPHP1	Single nucleotide variant (intron variant)	Nephronophthisis 1 +3 more	GLikely benign
Select item 1584566	NM_001128178.3(NPHP1):c.1270-12C>T	NPHP1	Single nucleotide variant (intron variant)	Nephronophthisis +3 more	GLikely benign
Select item 1554409	NM_001128178.3(NPHP1):c.859+8G>C	NPHP1	Single nucleotide variant (intron variant)	Joubert syndrome with renal defect +3 more	GLikely benign
Select item 1540564	NM_001128178.3(NPHP1):c.772-11A>T	NPHP1	Single nucleotide variant (intron variant)	Nephronophthisis +3 more	GLikely benign
Select item 1521403	NM_001128178.3(NPHP1):c.771+136C>A	NPHP1 (R303S)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 1 +4 more	GUncertain significance
Select item 1511869	NM_001128178.3(NPHP1):c.817G>A (p.Ala273Thr)	NPHP1 (A210T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1504682	NM_001128178.3(NPHP1):c.1402G>A (p.Glu468Lys)	NPHP1 (E523K +4 more)	Single nucleotide variant (missense variant)	Nephronophthisis 1 +3 more	GUncertain significance
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 1486161	NM_001128178.3(NPHP1):c.404A>G (p.Asp135Gly)	NPHP1 (D73G +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome with renal defect +3 more	GUncertain significance
Select item 1467632	NM_001128178.3(NPHP1):c.143+1G>C	NPHP1	Single nucleotide variant (splice donor variant)	Nephronophthisis +3 more	GLikely pathogenic
Select item 1434973	NM_001128178.3(NPHP1):c.1617A>G (p.Lys539=)	NPHP1	Single nucleotide variant (synonymous variant)	Nephronophthisis 1 +3 more	GConflicting classifications of pathogenicity
Select item 1429265	NM_001128178.3(NPHP1):c.1960G>A (p.Gly654Arg)	NPHP1 (G591R +4 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 1407713	NM_001128178.3(NPHP1):c.678A>C (p.Glu226Asp)	NPHP1 (E164D +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 1 +3 more	GUncertain significance
Select item 1351819	NM_001128178.3(NPHP1):c.599G>A (p.Gly200Asp)	NPHP1 (G138D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1303342	NM_001128178.3(NPHP1):c.1589G>A (p.Arg530Gln)	NPHP1 (R467Q +4 more)	Single nucleotide variant (missense variant)	Joubert syndrome with renal defect +4 more	GUncertain significance
Select item 1179212	GRCh37/hg19 2q13(chr2:110880893-110962659)	NPHP1	Copy number loss	Joubert syndrome with renal defect +2 more	GPathogenic
Select item 1179110	GRCh37/hg19 2q13(chr2:110880925-110962590)	NPHP1	Copy number loss	Joubert syndrome with renal defect +2 more	GPathogenic
Select item 1136933	NM_001128178.3(NPHP1):c.558T>G (p.Pro186=)	NPHP1	Single nucleotide variant (synonymous variant)	Nephronophthisis +4 more	GLikely benign
Select item 1094330	NM_001128178.3(NPHP1):c.1722G>A (p.Ser574=)	NPHP1	Single nucleotide variant (synonymous variant)	Nephronophthisis +4 more	GLikely benign
Select item 1070446	NM_001128178.3(NPHP1):c.483del (p.Asp162fs)	NPHP1 (D100fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 1062140	NM_001128178.3(NPHP1):c.2007G>A (p.Leu669=)	NPHP1	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 1060670	NM_001128178.3(NPHP1):c.1462A>G (p.Met488Val)	NPHP1 (M425V +4 more)	Single nucleotide variant (missense variant)	Nephronophthisis +3 more	GUncertain significance
Select item 1057817	NM_001128178.3(NPHP1):c.1649T>C (p.Ile550Thr)	NPHP1 (I487T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1035675	NM_001128178.3(NPHP1):c.1009A>C (p.Met337Leu)	NPHP1 (M337L +4 more)	Single nucleotide variant (missense variant)	Nephronophthisis +3 more	GUncertain significance
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 1030711	NM_001128178.3(NPHP1):c.1933G>A (p.Ala645Thr)	NPHP1 (A644T +4 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +3 more	GUncertain significance
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 1018449	NM_001128178.3(NPHP1):c.522+5_522+8del	NPHP1	Microsatellite (splice donor variant)	Nephronophthisis +3 more	GUncertain significance
Select item 1016075	NM_001128178.3(NPHP1):c.1252A>G (p.Ile418Val)	NPHP1 (I355V +4 more)	Single nucleotide variant (missense variant)	Nephronophthisis +3 more	GUncertain significance
Select item 1014274	NM_001128178.3(NPHP1):c.242G>A (p.Arg81Lys)	NPHP1 (R81K)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 972326	NM_001128178.3(NPHP1):c.1523T>G (p.Val508Gly)	NPHP1 (V563G +4 more)	Single nucleotide variant (missense variant)	Joubert syndrome with renal defect +4 more	GUncertain significance
Select item 968322	NM_001128178.3(NPHP1):c.2018G>A (p.Arg673Lys)	NPHP1 (R673K +4 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 1 +4 more	GUncertain significance
Select item 959022	NM_001128178.3(NPHP1):c.604G>C (p.Val202Leu)	NPHP1 (V202L +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis +4 more	GUncertain significance
Select item 942042	NM_001128178.3(NPHP1):c.1882C>T (p.Arg628Trp)	NPHP1 (R565W +4 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome with renal defect +3 more	GUncertain significance
Select item 941597	NM_001128178.3(NPHP1):c.1895T>C (p.Ile632Thr)	NPHP1 (I632T +4 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome with renal defect +3 more	GUncertain significance
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 894668	NM_001128178.3(NPHP1):c.240G>A (p.Gln80=)	NPHP1	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 894667	NM_001128178.3(NPHP1):c.352G>A (p.Glu118Lys)	NPHP1 (E118K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 894647	NM_001128178.3(NPHP1):c.771+148G>T	NPHP1 (V307F)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome with renal defect +2 more	GUncertain significance
Select item 894599	NM_001128178.3(NPHP1):c.*194T>C	NPHP1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome with renal defect +2 more	GConflicting classifications of pathogenicity
Select item 894253	NM_001128178.3(NPHP1):c.771+178C>T	NPHP1	Single nucleotide variant (intron variant)	Senior-Loken syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 894222	NM_001128178.3(NPHP1):c.1534C>T (p.Leu512=)	NPHP1	Single nucleotide variant (synonymous variant)	Joubert syndrome with renal defect +2 more	GUncertain significance
Select item 894221	NM_001128178.3(NPHP1):c.1693C>A (p.Pro565Thr)	NPHP1 (P564T +4 more)	Single nucleotide variant (missense variant)	Nephronophthisis +3 more	GUncertain significance
Select item 894189	NM_001128178.3(NPHP1):c.*199A>G	NPHP1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome with renal defect +2 more	GUncertain significance
Select item 894188	NM_001128178.3(NPHP1):c.*238T>C	NPHP1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome with renal defect +2 more	GUncertain significance
Select item 893777	NM_000272.3(NPHP1):c.-54C>T	NPHP1	Single nucleotide variant	Joubert syndrome with renal defect +2 more	GUncertain significance
Select item 893478	NM_001128178.3(NPHP1):c.-17G>A	NPHP1	Single nucleotide variant (5 prime UTR variant)	Joubert syndrome with renal defect +3 more	GLikely benign
Select item 893477	NM_001128178.3(NPHP1):c.30C>T (p.Leu10=)	NPHP1	Single nucleotide variant (synonymous variant)	Joubert syndrome with renal defect +2 more	GUncertain significance
Select item 893388	NM_001128178.3(NPHP1):c.1716+15T>C	NPHP1	Single nucleotide variant (intron variant)	Nephronophthisis +3 more	GConflicting classifications of pathogenicity
Select item 893387	NM_001128178.3(NPHP1):c.1717-5T>G	NPHP1	Single nucleotide variant (intron variant)	Joubert syndrome with renal defect +2 more	GUncertain significance
Select item 893357	NM_000272.4(NPHP1):c.*460T>A	NPHP1	Single nucleotide variant	Joubert syndrome with renal defect +2 more	GUncertain significance
Select item 892675	NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys)	NPHP1 (Y46C)	Single nucleotide variant (missense variant)	Joubert syndrome with renal defect +3 more	GUncertain significance
Select item 892573	NM_001128178.3(NPHP1):c.1804C>G (p.His602Asp)	NPHP1 (H601D +4 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome with renal defect +2 more	GUncertain significance
Select item 860532	NM_001128178.3(NPHP1):c.44G>T (p.Arg15Leu)	NPHP1 (R15L)	Single nucleotide variant (missense variant)	Nephronophthisis +3 more	GUncertain significance
Select item 854715	NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter)	NPHP1 (W629* +4 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis +3 more	GPathogenic/Likely pathogenic
Select item 845883	NM_001128178.3(NPHP1):c.368G>A (p.Ser123Asn)	NPHP1 (S123N +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome with renal defect +3 more	GUncertain significance
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 705458	NM_001128178.3(NPHP1):c.771+78G>A	NPHP1	Single nucleotide variant (synonymous variant +1 more)	NPHP1-related condition +4 more	GLikely benign
Select item 704235	NM_001128178.3(NPHP1):c.1530-4del	NPHP1	Deletion (intron variant)	NPHP1-related condition +4 more	GLikely benign
Select item 697662	NM_001128178.3(NPHP1):c.1353-9C>A	NPHP1	Single nucleotide variant (intron variant)	Nephronophthisis +3 more	GLikely benign
Select item 659174	NM_001128178.3(NPHP1):c.872G>A (p.Arg291Gln)	NPHP1 (R228Q +4 more)	Single nucleotide variant (missense variant)	Joubert syndrome with renal defect +3 more	GUncertain significance
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 598468	NM_001128178.3(NPHP1):c.712G>T (p.Ala238Ser)	NPHP1 (A238S +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 1 +3 more	GUncertain significance
Select item 597137	NM_001128178.3(NPHP1):c.1541A>G (p.Glu514Gly)	NPHP1 (E570G +4 more)	Single nucleotide variant (missense variant)	Nephronophthisis +4 more	GUncertain significance
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 595311	NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter)	NPHP1 (E139* +1 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 595047	NM_001128178.3(NPHP1):c.1643-3C>T	NPHP1	Single nucleotide variant (intron variant)	Nephronophthisis +4 more	GUncertain significance
Select item 595046	NM_001128178.3(NPHP1):c.1016C>G (p.Pro339Arg)	NPHP1 (P395R +4 more)	Single nucleotide variant (missense variant)	Nephronophthisis +4 more	GUncertain significance
Select item 594808	NM_001128178.3(NPHP1):c.460G>A (p.Gly154Ser)	NPHP1 (G154S +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome with renal defect +4 more	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 579607	NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter)	NPHP1 (R347* +4 more)	Single nucleotide variant (nonsense)	Joubert syndrome with renal defect +4 more	GPathogenic
Select item 566103	NM_001128178.3(NPHP1):c.1761+5A>C	NPHP1	Single nucleotide variant (intron variant)	Nephronophthisis +4 more	GConflicting classifications of pathogenicity
Select item 531636	NM_001128178.3(NPHP1):c.1434C>T (p.His478=)	NPHP1	Single nucleotide variant (synonymous variant)	Joubert syndrome with renal defect +4 more	GLikely benign
Select item 501325	NM_001128178.3(NPHP1):c.836C>T (p.Thr279Met)	NPHP1 (T335M +4 more)	Single nucleotide variant (missense variant)	Nephronophthisis +5 more	GBenign/Likely benign
Select item 500650	NM_001128178.3(NPHP1):c.1837C>T (p.Arg613Cys)	NPHP1 (R669C +4 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 1 +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)	Nephronophthisis 1 +4 more	GUncertain significance
Select item 499231	NM_001128178.3(NPHP1):c.61A>G (p.Lys21Glu)	NPHP1 (K21E)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 498608	NM_001128178.3(NPHP1):c.772-5T>C	NPHP1	Single nucleotide variant (intron variant)	Nephronophthisis 1 +4 more	GConflicting classifications of pathogenicity
Select item 498548	NM_001128178.3(NPHP1):c.493G>A (p.Ala165Thr)	NPHP1 (A165T +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis +4 more	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 462708	NM_001128178.3(NPHP1):c.438T>C (p.Asn146=)	NPHP1	Single nucleotide variant (synonymous variant)	Joubert syndrome with renal defect +3 more	GBenign/Likely benign
Select item 385557	NM_001128178.3(NPHP1):c.1524A>G (p.Val508=)	NPHP1	Single nucleotide variant (synonymous variant)	not specified +5 more	GLikely benign
Select item 330738	NM_001128178.3(NPHP1):c.456A>G (p.Ser152=)	NPHP1	Single nucleotide variant (synonymous variant)	Nephronophthisis +3 more	GConflicting classifications of pathogenicity
Select item 330737	NM_001128178.3(NPHP1):c.593A>G (p.Asn198Ser)	NPHP1 (N198S +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome with renal defect +2 more	GUncertain significance
Select item 330736	NM_001128178.3(NPHP1):c.669C>T (p.Gly223=)	NPHP1	Single nucleotide variant (synonymous variant)	Joubert syndrome with renal defect +2 more	GUncertain significance
Select item 330735	NM_001128178.3(NPHP1):c.771+89A>G	NPHP1 (N287S)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 1 +4 more	GUncertain significance
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 330733	NM_001128178.3(NPHP1):c.820G>C (p.Gly274Arg)	NPHP1 (G330R +4 more)	Single nucleotide variant (missense variant)	Joubert syndrome with renal defect +2 more	GUncertain significance
Select item 330732	NM_001128178.3(NPHP1):c.1165C>T (p.Arg389Cys)	NPHP1 (R445C +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 330731	NM_001128178.3(NPHP1):c.1279G>C (p.Glu427Gln)	NPHP1 (E483Q +4 more)	Single nucleotide variant (missense variant)	Joubert syndrome with renal defect +2 more	GUncertain significance
Select item 330730	NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys)	NPHP1 (R546K +4 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 330729	NM_001128178.3(NPHP1):c.1522G>C (p.Val508Leu)	NPHP1 (V564L +4 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 330728	NM_001128178.3(NPHP1):c.1721C>T (p.Ser574Leu)	NPHP1 (S630L +4 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 1 +4 more	GUncertain significance
Select item 330727	NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=)	NPHP1	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 330726	NM_001128178.3(NPHP1):c.*250C>T	NPHP1	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 1 +2 more	GUncertain significance
Select item 330725	NM_001128178.3(NPHP1):c.*322A>G	NPHP1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome with renal defect +2 more	GUncertain significance
Select item 291242	NM_001128178.3(NPHP1):c.50A>G (p.Asn17Ser)	NPHP1 (N17S)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 1 +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 +5 more	GConflicting classifications of pathogenicity
Select item 287345	NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile)	NPHP1 (T374I +4 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 286936	NM_001128178.3(NPHP1):c.329+1G>A	NPHP1	Single nucleotide variant (intron variant +1 more)	Joubert syndrome and related disorders +5 more	GPathogenic/Likely pathogenic

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