ClinVar for MedGen (Select 146912) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247696	NC_000001.10:g.(?_5967155)_(5969293_?)dup	NPHP4	Duplication	Nephronophthisis	GLikely pathogenic
Select item 3247205	NC_000002.11:g.(?_110927363)_(110927595_?)dup	NPHP1	Duplication	Nephronophthisis	GLikely pathogenic
Select item 3247203	NC_000002.11:g.(?_110881368)_(110962545_?)dup	NPHP1	Duplication	Nephronophthisis	GBenign
Select item 3247202	NC_000002.11:g.(?_110881368)_(110937281_?)del	NPHP1	Deletion	Nephronophthisis	GPathogenic
Select item 3247201	NC_000002.11:g.(?_110881368)_(110886856_?)del	NPHP1	Deletion	Nephronophthisis	GPathogenic
Select item 3247200	NC_000002.11:g.(?_110958978)_(110962545_?)del	NPHP1	Deletion	Nephronophthisis	GPathogenic
Select item 3246870	NC_000003.11:g.(?_132418742)_(132424678_?)del	NPHP3	Deletion	Nephronophthisis	GPathogenic
Select item 3245137	NC_000009.11:g.(?_102886435)_(102888697_?)del	INVS	Deletion	Nephronophthisis	GPathogenic
Select item 3245134	NC_000009.11:g.(?_103014545)_(103015438_?)dup	INVS	Duplication	Nephronophthisis	GLikely pathogenic
Select item 3245133	NC_000009.11:g.(?_102988324)_(103035378_?)del	INVS	Deletion	Nephronophthisis	GPathogenic
Select item 3245132	NC_000009.11:g.(?_103059179)_(103060312_?)del	INVS	Deletion	Nephronophthisis	GLikely pathogenic
Select item 3245131	NC_000009.11:g.(?_103002531)_(103006718_?)del	INVS	Deletion	Nephronophthisis	GPathogenic
Select item 3245130	NC_000009.11:g.(?_102866804)_(102866929_?)del	INVS	Deletion	Nephronophthisis	GPathogenic
Select item 3245129	NC_000009.11:g.(?_103027084)_(103027230_?)del	INVS	Deletion	Nephronophthisis	GPathogenic
Select item 3244278	NC_000012.11:g.(?_88209614)_(88484553_?)del	C12orf50, CEP290 +1 more	Deletion	Meckel-Gruber syndrome +2 more	GPathogenic
Select item 3244277	NC_000012.11:g.(?_88209612)_(88484553_?)del	C12orf50, CEP290 +1 more	Deletion	Meckel-Gruber syndrome +2 more	GPathogenic
Select item 3244276	NC_000012.11:g.(?_88517531)_(88519028_?)del	CEP290	Deletion	Meckel-Gruber syndrome +2 more	GLikely pathogenic
Select item 3244275	NC_000012.11:g.(?_88452605)_(88454791_?)dup	CEP290	Duplication	Meckel-Gruber syndrome +2 more	GLikely pathogenic
Select item 3244274	NC_000012.11:g.(?_88452605)_(88525015_?)del	CEP290	Deletion	Meckel-Gruber syndrome +2 more	GPathogenic
Select item 3244273	NC_000012.11:g.(?_88502823)_(88525015_?)del	CEP290	Deletion	Meckel-Gruber syndrome +2 more	GPathogenic
Select item 3244272	NC_000012.11:g.(?_88484485)_(88487772_?)del	CEP290	Deletion	Meckel-Gruber syndrome +2 more	GPathogenic
Select item 3244270	NC_000012.11:g.(?_88465051)_(88496808_?)del	CEP290	Deletion	Meckel-Gruber syndrome +2 more	GPathogenic
Select item 3244269	NC_000012.11:g.(?_88472849)_(88535092_?)del	CEP290	Deletion	Meckel-Gruber syndrome +2 more	GPathogenic
Select item 3244268	NC_000012.11:g.(?_88481537)_(88523673_?)del	CEP290	Deletion	Meckel-Gruber syndrome +2 more	GPathogenic
Select item 3244267	NC_000012.11:g.(?_88471559)_(88471893_?)del	CEP290	Deletion	Meckel-Gruber syndrome +2 more	GLikely pathogenic
Select item 3075955	NM_153240.5(NPHP3):c.1157del (p.Asn386fs)	NPHP3, NPHP3-ACAD11 (N386fs)	Deletion (non-coding transcript variant +1 more)	Nephronophthisis	GLikely pathogenic
Select item 3022642	NM_014425.5(INVS):c.630dup (p.Glu211fs)	INVS (E115fs +1 more)	Duplication (frameshift variant +2 more)	Nephronophthisis	GPathogenic
Select item 3022020	NM_014425.5(INVS):c.864A>G (p.Gln288=)	INVS	Single nucleotide variant (synonymous variant +2 more)	Nephronophthisis	GLikely benign
Select item 3021911	NM_001128178.3(NPHP1):c.955-15T>G	NPHP1	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 3021503	NM_014425.5(INVS):c.615+10A>G	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 3020908	NM_014425.5(INVS):c.833del (p.Asn278fs)	INVS (N182fs +1 more)	Deletion (frameshift variant +2 more)	Nephronophthisis	GPathogenic
Select item 3020672	NM_014425.5(INVS):c.2967C>T (p.Gly989=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 3020530	NM_001128178.3(NPHP1):c.339A>T (p.Ala113=)	NPHP1	Single nucleotide variant (synonymous variant)	Nephronophthisis	GLikely benign
Select item 3019927	NM_001128178.3(NPHP1):c.1269+17A>G	NPHP1	Single nucleotide variant (intron variant)	Nephronophthisis	GUncertain significance
Select item 3019838	NM_001128178.3(NPHP1):c.1716+17G>A	NPHP1	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 3019498	NM_014425.5(INVS):c.330G>A (p.Lys110=)	INVS	Single nucleotide variant (synonymous variant +2 more)	Nephronophthisis	GLikely benign
Select item 3019406	NM_015102.5(NPHP4):c.4164C>T (p.Thr1388=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 3019143	NM_014425.5(INVS):c.1726C>T (p.Arg576Ter)	INVS (R576* +2 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +1 more	GPathogenic
Select item 3019105	NM_001128178.3(NPHP1):c.624+10G>A	NPHP1	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 3019092	NM_153240.5(NPHP3):c.3726T>A (p.Tyr1242Ter)	NPHP3, NPHP3-ACAD11 (Y1242*)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GPathogenic
Select item 3018792	NM_015102.5(NPHP4):c.2818-8G>C	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 3018725	NM_015102.5(NPHP4):c.2026_2027del (p.Pro676fs)	NPHP4 (P164fs +2 more)	Deletion (frameshift variant +1 more)	Nephronophthisis	GPathogenic
Select item 3018555	NM_001023570.4(IQCB1):c.150A>G (p.Lys50=)	IQCB1	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 3018512	NM_014425.5(INVS):c.906+14G>A	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 3018171	NM_014425.5(INVS):c.2898G>A (p.Arg966=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 3017890	NM_015102.5(NPHP4):c.261C>T (p.Ser87=)	NPHP4	Single nucleotide variant (5 prime UTR variant +3 more)	Nephronophthisis	GLikely benign
Select item 3017673	NM_001128178.3(NPHP1):c.771+182T>G	NPHP1	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 3017575	NM_014425.5(INVS):c.664C>T (p.Arg222Ter)	INVS (R126* +1 more)	Single nucleotide variant (nonsense +2 more)	Nephronophthisis	GPathogenic
Select item 3017521	NM_014425.5(INVS):c.400C>T (p.Leu134=)	INVS	Single nucleotide variant (synonymous variant +2 more)	Nephronophthisis	GLikely benign
Select item 3017197	NM_014425.5(INVS):c.2001C>A (p.Gly667=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 3017128	NM_001128178.3(NPHP1):c.1251A>G (p.Gly417=)	NPHP1	Single nucleotide variant (synonymous variant)	Nephronophthisis	GLikely benign
Select item 3016989	NM_015102.5(NPHP4):c.3996+9G>T	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 3016982	NM_001128178.3(NPHP1):c.1066C>T (p.Leu356=)	NPHP1	Single nucleotide variant (synonymous variant)	Nephronophthisis	GLikely benign
Select item 3016979	NM_014425.5(INVS):c.906+18A>G	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 3016545	NM_153240.5(NPHP3):c.3642G>A (p.Lys1214=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 3016513	NM_015102.5(NPHP4):c.2817+16G>A	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 3016410	NM_001128178.3(NPHP1):c.327T>G (p.Thr109=)	NPHP1	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 3016407	NM_014425.5(INVS):c.2625G>A (p.Lys875=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 3016346	NM_014425.5(INVS):c.915T>A (p.Val305=)	INVS	Single nucleotide variant (synonymous variant +2 more)	Nephronophthisis	GLikely benign
Select item 3015376	NM_001128178.3(NPHP1):c.860-11G>T	NPHP1	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 3015258	NM_001128178.3(NPHP1):c.330-11A>G	NPHP1	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 3014710	NM_015102.5(NPHP4):c.2611+11A>G	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 3014140	NM_014425.5(INVS):c.1353C>T (p.Val451=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 3013798	NM_001128178.3(NPHP1):c.286C>T (p.Leu96=)	NPHP1	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 3013024	NM_014425.5(INVS):c.1078+15A>G	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 3011765	NM_001128178.3(NPHP1):c.1755A>C (p.Ser585=)	NPHP1	Single nucleotide variant (synonymous variant)	Nephronophthisis	GLikely benign
Select item 3007042	NM_014425.5(INVS):c.1140T>C (p.Asn380=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 3006915	NM_014425.5(INVS):c.2613T>C (p.Phe871=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 3006860	NM_153240.5(NPHP3):c.2311-9T>C	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 3005912	NM_014425.5(INVS):c.2460T>C (p.His820=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 3005771	NM_001128178.3(NPHP1):c.771+108C>T	NPHP1	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 3005020	NM_014425.5(INVS):c.302_305del (p.Leu101fs)	INVS (L101fs +1 more)	Microsatellite (frameshift variant +2 more)	Nephronophthisis	GPathogenic
Select item 3004709	NM_014425.5(INVS):c.2049A>T (p.Thr683=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 3004230	NM_001128178.3(NPHP1):c.1164T>C (p.Thr388=)	NPHP1	Single nucleotide variant (synonymous variant)	Nephronophthisis	GLikely benign
Select item 3001569	NM_014425.5(INVS):c.796+20A>G	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 3001017	NM_153240.5(NPHP3):c.3118C>T (p.Gln1040Ter)	NPHP3, NPHP3-ACAD11 (Q1040*)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GPathogenic
Select item 3000841	NM_014425.5(INVS):c.2068+10T>C	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 3000453	NM_015102.5(NPHP4):c.3812T>C (p.Leu1271Pro)	NPHP4 (L1271P +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GLikely pathogenic
Select item 2998786	NM_153240.5(NPHP3):c.824-8A>G	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2996949	NM_153240.5(NPHP3):c.60C>T (p.Tyr20=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 2996386	NM_014425.5(INVS):c.796+17A>C	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2995925	NM_014425.5(INVS):c.1920C>G (p.Pro640=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 2995558	NM_001128178.3(NPHP1):c.837G>A (p.Thr279=)	NPHP1	Single nucleotide variant (synonymous variant)	Nephronophthisis	GLikely benign
Select item 2993027	NM_001128178.3(NPHP1):c.1352+12A>G	NPHP1	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2992711	NM_015102.5(NPHP4):c.4140+11G>A	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2992405	NM_001128178.3(NPHP1):c.205-4A>G	NPHP1	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2988496	NM_015102.5(NPHP4):c.3675G>A (p.Thr1225=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 2987816	NM_001023570.4(IQCB1):c.1130-20A>G	IQCB1	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2987477	NM_001128178.3(NPHP1):c.30C>G (p.Leu10=)	NPHP1	Single nucleotide variant (synonymous variant)	Nephronophthisis	GLikely benign
Select item 2985497	NM_001128178.3(NPHP1):c.1492C>T (p.Leu498=)	NPHP1	Single nucleotide variant (synonymous variant)	Nephronophthisis	GLikely benign
Select item 2982013	NM_001128178.3(NPHP1):c.1761+19C>T	NPHP1	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2981261	NM_153240.5(NPHP3):c.2868A>G (p.Leu956=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 2978952	NM_014425.5(INVS):c.1234+7T>C	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2977398	NM_014425.5(INVS):c.2225dup (p.Lys743fs)	INVS (K647fs +2 more)	Duplication (frameshift variant +1 more)	Nephronophthisis	GPathogenic
Select item 2977300	NM_153240.5(NPHP3):c.1779A>G (p.Thr593=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 2975401	NM_001128178.3(NPHP1):c.37C>T (p.Leu13=)	NPHP1	Single nucleotide variant (synonymous variant)	Nephronophthisis	GLikely benign
Select item 2975333	NM_014425.5(INVS):c.2618dup (p.Ser874fs)	INVS (S548fs +2 more)	Duplication (frameshift variant +1 more)	Nephronophthisis	GPathogenic
Select item 2974988	NM_001023570.4(IQCB1):c.1443G>A (p.Glu481=)	IQCB1	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 2974123	NM_001128178.3(NPHP1):c.1173A>G (p.Leu391=)	NPHP1	Single nucleotide variant (synonymous variant)	Nephronophthisis	GLikely benign
Select item 2970479	NM_014425.5(INVS):c.2068+14C>T	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign

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