ClinVar for MedGen (Select 355574) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690626	NM_014425.5(INVS):c.2371C>T (p.Gln791Ter)	INVS (Q465* +2 more)	Single nucleotide variant (nonsense +1 more)	Infantile nephronophthisis	GLikely pathogenic
Select item 2584432	NM_014425.5(INVS):c.778C>T (p.His260Tyr)	INVS (H164Y +1 more)	Single nucleotide variant (missense variant +2 more)	Infantile nephronophthisis	GLikely pathogenic
Select item 2584431	NM_014425.5(INVS):c.325C>T (p.Gln109Ter)	INVS (Q109* +1 more)	Single nucleotide variant (nonsense +2 more)	Infantile nephronophthisis	GPathogenic
Select item 2500748	NM_014425.5(INVS):c.3062_3063del (p.Lys1021fs)	INVS (K1021fs +2 more)	Deletion (frameshift variant +1 more)	Infantile nephronophthisis	GLikely pathogenic
Select item 2498124	NM_014425.5(INVS):c.805_806del (p.Gln269fs)	INVS (Q173fs +1 more)	Microsatellite (5 prime UTR variant +2 more)	Infantile nephronophthisis	GPathogenic
Select item 2498123	NM_014425.5(INVS):c.[796+5G>A;805_806del]	INVS (Q173fs +1 more)	Single nucleotide variant (intron variant +3 more)	Infantile nephronophthisis	GPathogenic
Select item 2432859	NM_014425.5(INVS):c.2935G>A (p.Val979Ile)	INVS (V653I +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile nephronophthisis	GUncertain significance
Select item 1670069	NM_014425.5(INVS):c.867A>C (p.Gly289=)	INVS	Single nucleotide variant (synonymous variant +2 more)	Nephronophthisis +1 more	GLikely benign
Select item 1648117	NM_014425.5(INVS):c.448-19G>T	INVS	Single nucleotide variant (intron variant)	Infantile nephronophthisis +1 more	GLikely benign
Select item 1623368	NM_014425.5(INVS):c.2685C>T (p.Pro895=)	INVS	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 1589850	NM_014425.5(INVS):c.1785-20T>G	INVS	Single nucleotide variant (intron variant)	Nephronophthisis +1 more	GLikely benign
Select item 1587543	NM_014425.5(INVS):c.1638C>T (p.His546=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +1 more	GLikely benign
Select item 1576394	NM_014425.5(INVS):c.1465-15T>G	INVS	Single nucleotide variant (intron variant)	Nephronophthisis +1 more	GLikely benign
Select item 1521935	NM_014425.5(INVS):c.349C>G (p.Pro117Ala)	INVS (P21A +1 more)	Single nucleotide variant (missense variant +2 more)	Infantile nephronophthisis +2 more	GUncertain significance
Select item 1510565	NM_014425.5(INVS):c.1544C>T (p.Pro515Leu)	INVS (P515L +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile nephronophthisis +1 more	GUncertain significance
Select item 1495019	NM_014425.5(INVS):c.158T>C (p.Met53Thr)	INVS (M53T)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis +1 more	GUncertain significance
Select item 1465038	NM_014425.5(INVS):c.273+3G>A	INVS	Single nucleotide variant (intron variant)	Infantile nephronophthisis +1 more	GUncertain significance
Select item 1458571	NM_014425.5(INVS):c.2501_2502del (p.Lys834fs)	INVS (K508fs +2 more)	Deletion (non-coding transcript variant +1 more)	Infantile nephronophthisis +1 more	GPathogenic/Likely pathogenic
Select item 1449119	NM_014425.5(INVS):c.1633G>C (p.Glu545Gln)	INVS (E545Q +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 1443321	NM_014425.5(INVS):c.239G>A (p.Ser80Asn)	INVS (S80N)	Single nucleotide variant (5 prime UTR variant +2 more)	Infantile nephronophthisis +1 more	GUncertain significance
Select item 1400782	NM_014425.5(INVS):c.500T>C (p.Leu167Pro)	INVS (L167P +1 more)	Single nucleotide variant (missense variant +2 more)	Nephronophthisis +1 more	GUncertain significance
Select item 1390672	NM_014425.5(INVS):c.1639G>A (p.Gly547Ser)	INVS (G547S +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile nephronophthisis +1 more	GUncertain significance
Select item 1390266	NM_014425.5(INVS):c.337G>A (p.Glu113Lys)	INVS (E17K +1 more)	Single nucleotide variant (missense variant +2 more)	Infantile nephronophthisis +1 more	GUncertain significance
Select item 1385733	NM_014425.5(INVS):c.1787A>G (p.Lys596Arg)	INVS (K270R +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile nephronophthisis +1 more	GUncertain significance
Select item 1385208	NM_014425.5(INVS):c.658G>A (p.Glu220Lys)	INVS (E220K +1 more)	Single nucleotide variant (missense variant +2 more)	Infantile nephronophthisis +1 more	GUncertain significance
Select item 1355469	NM_014425.5(INVS):c.1186C>T (p.Arg396Ter)	INVS (R396* +2 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis +2 more	GPathogenic
Select item 1332716	NM_014425.5(INVS):c.796+5G>A	INVS	Single nucleotide variant (intron variant)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 1252044	NM_014425.5(INVS):c.753T>G (p.Tyr251Ter)	INVS (Y155* +1 more)	Single nucleotide variant (nonsense +2 more)	Infantile nephronophthisis	GPathogenic
Select item 1179160	GRCh37/hg19 9q31.1(chr9:103059178-103060312)	INVS	Copy number loss	Infantile nephronophthisis	GPathogenic
Select item 1168198	NM_014425.5(INVS):c.2582G>C (p.Arg861Thr)	INVS (R535T +2 more)	Single nucleotide variant (missense variant +1 more)	INVS-related condition +2 more	GBenign/Likely benign
Select item 1140874	NM_014425.5(INVS):c.2307G>A (p.Pro769=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +1 more	GLikely benign
Select item 1127495	NM_014425.5(INVS):c.2394C>G (p.Leu798=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +1 more	GLikely benign
Select item 1069181	NM_014425.5(INVS):c.497_512dup (p.His171fs)	INVS (H171fs +1 more)	Duplication (frameshift variant +2 more)	Nephronophthisis +1 more	GPathogenic/Likely pathogenic
Select item 1067538	NM_014425.5(INVS):c.2786+1G>A	INVS	Single nucleotide variant (splice donor variant)	Nephronophthisis +1 more	GPathogenic/Likely pathogenic
Select item 1059924	NM_014425.5(INVS):c.1336A>C (p.Lys446Gln)	INVS (K120Q +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 1054432	NM_014425.5(INVS):c.2673T>G (p.Ile891Met)	INVS (I565M +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 1047440	NM_014425.5(INVS):c.1177C>G (p.Pro393Ala)	INVS (P67A +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 1044318	NM_014425.5(INVS):c.2888A>T (p.Gln963Leu)	INVS (Q867L +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile nephronophthisis +1 more	GUncertain significance
Select item 1041829	NM_014425.5(INVS):c.2089A>G (p.Lys697Glu)	INVS (K371E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1040451	NM_014425.5(INVS):c.2263G>A (p.Glu755Lys)	INVS (E429K +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 1020387	NM_014425.5(INVS):c.3149C>T (p.Ser1050Phe)	INVS (S1050F +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile nephronophthisis +1 more	GUncertain significance
Select item 1020282	NM_014425.5(INVS):c.2539C>T (p.His847Tyr)	INVS (H521Y +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile nephronophthisis +1 more	GUncertain significance
Select item 1010223	NM_014425.5(INVS):c.103G>A (p.Val35Ile)	INVS (V35I)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis +1 more	GUncertain significance
Select item 1003205	NM_014425.5(INVS):c.524T>C (p.Ile175Thr)	INVS (I175T +1 more)	Single nucleotide variant (missense variant +2 more)	Infantile nephronophthisis +1 more	GUncertain significance
Select item 1000241	NM_014425.5(INVS):c.2002G>A (p.Gly668Arg)	INVS (G342R +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 974395	NM_014425.5(INVS):c.1484G>A (p.Trp495Ter)	INVS (W169* +2 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis +1 more	GPathogenic/Likely pathogenic
Select item 969953	NM_014425.5(INVS):c.2822A>T (p.His941Leu)	INVS (H615L +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile nephronophthisis +1 more	GUncertain significance
Select item 963850	NM_014425.5(INVS):c.118C>T (p.Leu40Phe)	INVS (L40F)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis +1 more	GUncertain significance
Select item 962707	NM_014425.5(INVS):c.1117G>A (p.Val373Met)	INVS (V373M +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +2 more	GUncertain significance
Select item 954444	NM_014425.5(INVS):c.2272G>A (p.Glu758Lys)	INVS (E432K +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile nephronophthisis +1 more	GUncertain significance
Select item 947974	NM_014425.5(INVS):c.1654G>A (p.Ala552Thr)	INVS (A226T +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 935818	NM_014425.5(INVS):c.368G>A (p.Arg123Gln)	INVS (R123Q +1 more)	Single nucleotide variant (missense variant +2 more)	Nephronophthisis +2 more	GUncertain significance
Select item 933866	NM_014425.5(INVS):c.1595T>C (p.Leu532Ser)	INVS (L206S +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile nephronophthisis +1 more	GUncertain significance
Select item 933845	NM_014425.5(INVS):c.2720G>A (p.Arg907Gln)	INVS (R907Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 917944	NM_014425.5(INVS):c.875C>T (p.Pro292Leu)	INVS (P196L +1 more)	Single nucleotide variant (missense variant +2 more)	Infantile nephronophthisis	GUncertain significance
Select item 915033	NM_014425.5(INVS):c.*467A>T	INVS	Single nucleotide variant (3 prime UTR variant +1 more)	Infantile nephronophthisis	GUncertain significance
Select item 915032	NM_014425.5(INVS):c.*415A>G	INVS	Single nucleotide variant (3 prime UTR variant +1 more)	Infantile nephronophthisis	GUncertain significance
Select item 915031	NM_014425.5(INVS):c.*352A>T	INVS	Single nucleotide variant (3 prime UTR variant +1 more)	Infantile nephronophthisis	GUncertain significance
Select item 915030	NM_014425.5(INVS):c.*323A>T	INVS	Single nucleotide variant (3 prime UTR variant +1 more)	Infantile nephronophthisis	GUncertain significance
Select item 915029	NM_014425.5(INVS):c.*297A>G	INVS	Single nucleotide variant (3 prime UTR variant +1 more)	Infantile nephronophthisis	GBenign
Select item 915028	NM_014425.5(INVS):c.*158T>C	INVS	Single nucleotide variant (3 prime UTR variant +1 more)	Infantile nephronophthisis	GUncertain significance
Select item 914981	NM_014425.5(INVS):c.2381G>A (p.Arg794His)	INVS (R794H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 914933	NM_014425.5(INVS):c.-176C>T	INVS	Single nucleotide variant (5 prime UTR variant +1 more)	Infantile nephronophthisis	GUncertain significance
Select item 914512	NM_014425.5(INVS):c.*45G>A	INVS	Single nucleotide variant (3 prime UTR variant +1 more)	Infantile nephronophthisis	GUncertain significance
Select item 914511	NM_014425.5(INVS):c.*5C>T	INVS	Single nucleotide variant (3 prime UTR variant +1 more)	Infantile nephronophthisis	GUncertain significance
Select item 914510	NM_014425.5(INVS):c.3106T>C (p.Cys1036Arg)	INVS (C940R +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile nephronophthisis +1 more	GUncertain significance
Select item 914471	NM_014425.5(INVS):c.2210A>G (p.Lys737Arg)	INVS (K641R +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile nephronophthisis	GUncertain significance
Select item 914470	NM_014425.5(INVS):c.2108T>C (p.Val703Ala)	INVS (V377A +2 more)	Single nucleotide variant (missense variant)	Infantile nephronophthisis	GUncertain significance
Select item 913027	NM_014425.5(INVS):c.2714G>A (p.Arg905Lys)	INVS (R809K +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 913026	NM_014425.5(INVS):c.2570C>T (p.Ser857Leu)	INVS (S761L +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile nephronophthisis	GUncertain significance
Select item 913025	NM_014425.5(INVS):c.2520C>T (p.Leu840=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Infantile nephronophthisis	GUncertain significance
Select item 912981	NM_014425.5(INVS):c.501G>A (p.Leu167=)	INVS	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 912980	NM_014425.5(INVS):c.286T>C (p.Phe96Leu)	INVS (F96L)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis +2 more	GUncertain significance
Select item 862339	NM_014425.5(INVS):c.1436A>G (p.Asn479Ser)	INVS (N383S +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 857401	NM_014425.5(INVS):c.1264G>C (p.Asp422His)	INVS (D96H +2 more)	Single nucleotide variant (missense variant +1 more)	INVS-related condition +3 more	GUncertain significance
Select item 857076	NM_014425.5(INVS):c.2764G>C (p.Val922Leu)	INVS (V596L +2 more)	Single nucleotide variant (missense variant +1 more)	INVS-related condition +2 more	GUncertain significance
Select item 856494	NM_014425.5(INVS):c.1808G>A (p.Arg603Gln)	INVS (R507Q +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 855244	NM_014425.5(INVS):c.2021A>G (p.Gln674Arg)	INVS (Q348R +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 854243	NM_014425.5(INVS):c.1670T>G (p.Ile557Ser)	INVS (I231S +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 841405	NM_014425.5(INVS):c.1675G>A (p.Ala559Thr)	INVS (A233T +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile nephronophthisis +1 more	GUncertain significance
Select item 837729	NM_014425.5(INVS):c.1976G>A (p.Arg659Lys)	INVS (R333K +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile nephronophthisis +2 more	GUncertain significance
Select item 834292	NM_014425.5(INVS):c.2972C>G (p.Ser991Ter)	INVS (S665* +2 more)	Single nucleotide variant (nonsense +1 more)	Infantile nephronophthisis +1 more	GPathogenic
Select item 727089	NM_014425.5(INVS):c.1671C>T (p.Ile557=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +1 more	GLikely benign
Select item 700245	NM_014425.5(INVS):c.1374C>A (p.Thr458=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +2 more	GConflicting classifications of pathogenicity
Select item 690377	NM_014425.5(INVS):c.2949dup (p.Lys984fs)	INVS (K984fs +2 more)	Duplication (frameshift variant +1 more)	Infantile nephronophthisis	GLikely pathogenic
Select item 690376	NM_014425.5(INVS):c.1789C>T (p.Arg597Ter)	INVS (R271* +2 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis +1 more	GPathogenic/Likely pathogenic
Select item 660098	NM_014425.5(INVS):c.1078+1G>A	INVS	Single nucleotide variant (splice donor variant)	Infantile nephronophthisis +1 more	GPathogenic
Select item 656274	NM_014425.5(INVS):c.2285G>A (p.Arg762Gln)	INVS (R436Q +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 638415	NM_014425.5(INVS):c.962A>G (p.Glu321Gly)	INVS (E321G +1 more)	Single nucleotide variant (missense variant +2 more)	Infantile nephronophthisis	GUncertain significance
Select item 632530	NM_014425.5(INVS):c.1464+1G>A	INVS	Single nucleotide variant (splice donor variant)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 632529	NM_014425.5(INVS):c.564G>A (p.Trp188Ter)	INVS (W188* +1 more)	Single nucleotide variant (nonsense +2 more)	Infantile nephronophthisis	GUncertain significance
Select item 598601	NM_014425.5(INVS):c.520A>C (p.Asn174His)	INVS (N174H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 597248	NM_014425.5(INVS):c.1669A>G (p.Ile557Val)	INVS (I557V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 596755	NM_014425.5(INVS):c.67G>A (p.Val23Ile)	INVS (V23I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 596575	NM_014425.5(INVS):c.1496A>G (p.Asn499Ser)	INVS (N499S +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +2 more	GUncertain significance
Select item 596114	NM_014425.5(INVS):c.1661T>C (p.Ile554Thr)	INVS (I554T +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile nephronophthisis +2 more	GUncertain significance
Select item 595350	NM_014425.5(INVS):c.2740C>T (p.Arg914Cys)	INVS (R914C +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +2 more	GUncertain significance
Select item 595246	NM_014425.5(INVS):c.336G>A (p.Leu112=)	INVS	Single nucleotide variant (synonymous variant +2 more)	Nephronophthisis +2 more	GConflicting classifications of pathogenicity
Select item 594062	NM_014425.5(INVS):c.1727G>A (p.Arg576Gln)	INVS (R576Q +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 593696	NM_014425.5(INVS):c.2485C>T (p.Arg829Cys)	INVS (R829C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance

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