ClinVar for MedGen (Select 895764) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3005385	NM_014704.4(CEP104):c.1809G>A (p.Ser603=)	CEP104, LOC126805587	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 3004548	NM_014704.4(CEP104):c.1745del (p.His582fs)	CEP104, LOC126805587 (H582fs)	Deletion (frameshift variant)	Joubert syndrome 25	GPathogenic
Select item 3004422	NM_014704.4(CEP104):c.1636G>A (p.Val546Ile)	CEP104 (V546I)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GBenign
Select item 3003243	NM_014704.4(CEP104):c.885C>T (p.Ala295=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 2980863	NM_014704.4(CEP104):c.2662+13G>A	CEP104	Single nucleotide variant (intron variant)	Joubert syndrome 25	GLikely benign
Select item 2960631	NM_014704.4(CEP104):c.2662+12C>T	CEP104	Single nucleotide variant (intron variant)	Joubert syndrome 25	GLikely benign
Select item 2916640	NM_014704.4(CEP104):c.891+20C>T	CEP104	Single nucleotide variant (intron variant)	Joubert syndrome 25	GLikely benign
Select item 2902302	NM_014704.4(CEP104):c.2709C>T (p.Ala903=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 2901399	NM_014704.4(CEP104):c.123G>A (p.Gln41=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 2901393	NM_014704.4(CEP104):c.1836+16G>A	CEP104, LOC126805587	Single nucleotide variant (intron variant)	Joubert syndrome 25	GLikely benign
Select item 2893891	NM_014704.4(CEP104):c.1317+15_1317+16insC	CEP104	Insertion (intron variant)	Joubert syndrome 25	GBenign
Select item 2893140	NC_000001.11:g.3823227_3823243del	CEP104	Deletion	Joubert syndrome 25	GPathogenic
Select item 2878542	NM_014704.4(CEP104):c.2151+16G>A	CEP104	Single nucleotide variant (intron variant)	Joubert syndrome 25	GLikely benign
Select item 2862220	NM_014704.4(CEP104):c.520C>T (p.Leu174Phe)	CEP104 (L174F)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GUncertain significance
Select item 2826575	NM_014704.4(CEP104):c.290A>G (p.Tyr97Cys)	CEP104 (Y97C)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GUncertain significance
Select item 2804845	NM_014704.4(CEP104):c.606T>C (p.Phe202=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 2782468	NM_014704.4(CEP104):c.2325G>A (p.Lys775=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 2775550	NM_014704.4(CEP104):c.2460C>T (p.Phe820=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 2757038	NM_014704.4(CEP104):c.2344A>C (p.Arg782=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 2753353	NM_014704.4(CEP104):c.2255+8G>A	CEP104	Single nucleotide variant (intron variant)	Joubert syndrome 25	GLikely benign
Select item 2732079	NM_014704.4(CEP104):c.1136A>G (p.Tyr379Cys)	CEP104 (Y379C)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GUncertain significance
Select item 2724255	NM_014704.4(CEP104):c.1444G>A (p.Val482Ile)	CEP104 (V482I)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GUncertain significance
Select item 2718132	NM_014704.4(CEP104):c.2365-18C>G	CEP104	Single nucleotide variant (intron variant)	Joubert syndrome 25	GLikely benign
Select item 2712353	NM_014704.4(CEP104):c.2043+7del	CEP104, LOC126805586	Deletion (intron variant)	Joubert syndrome 25	GLikely benign
Select item 2705777	NM_014704.4(CEP104):c.2775C>T (p.Arg925=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 2581139	NM_014704.4(CEP104):c.52G>A (p.Gly18Ser)	CEP104 (G18S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464720	NM_014704.4(CEP104):c.1144C>G (p.Arg382Gly)	CEP104 (R382G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2417712	NM_014704.4(CEP104):c.1479G>A (p.Val493=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 2414602	NM_014704.4(CEP104):c.590T>C (p.Leu197Pro)	CEP104 (L197P)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GUncertain significance
Select item 2201434	NM_014704.4(CEP104):c.1659+17G>A	CEP104	Single nucleotide variant (intron variant)	Joubert syndrome 25	GLikely benign
Select item 2198500	NM_014704.4(CEP104):c.1213A>G (p.Ile405Val)	CEP104 (I405V)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GUncertain significance
Select item 2197791	NM_014704.4(CEP104):c.892-16C>G	CEP104	Single nucleotide variant (intron variant)	Joubert syndrome 25	GLikely benign
Select item 2194769	NM_014704.4(CEP104):c.113+19G>A	CEP104	Single nucleotide variant (intron variant)	Joubert syndrome 25	GLikely benign
Select item 2181009	NM_014704.4(CEP104):c.805G>A (p.Ala269Thr)	CEP104 (A269T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2180973	NM_014704.4(CEP104):c.1317+12_1317+13insC	CEP104	Insertion (intron variant)	Joubert syndrome 25	GLikely benign
Select item 2176079	NM_014704.4(CEP104):c.1199T>A (p.Met400Lys)	CEP104 (M400K)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GUncertain significance
Select item 2174475	NM_014704.4(CEP104):c.1877G>A (p.Arg626His)	CEP104, LOC126805586 (R626H)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GUncertain significance
Select item 2165788	NM_014704.4(CEP104):c.1033C>G (p.Pro345Ala)	CEP104 (P345A)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GUncertain significance
Select item 2161102	NM_014704.4(CEP104):c.1082C>G (p.Pro361Arg)	CEP104 (P361R)	Single nucleotide variant (missense variant)	Joubert syndrome 25 +1 more	GUncertain significance
Select item 2159015	NM_014704.4(CEP104):c.426+19C>T	CEP104	Single nucleotide variant (intron variant)	Joubert syndrome 25	GLikely benign
Select item 2156237	NM_014704.4(CEP104):c.1659+16C>T	CEP104	Single nucleotide variant (intron variant)	Joubert syndrome 25	GLikely benign
Select item 2152596	NM_014704.4(CEP104):c.426+20G>A	CEP104	Single nucleotide variant (intron variant)	Joubert syndrome 25	GLikely benign
Select item 2148262	NM_014704.4(CEP104):c.886G>A (p.Glu296Lys)	CEP104 (E296K)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GUncertain significance
Select item 2145291	NM_014704.4(CEP104):c.2601C>T (p.Ala867=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 2144741	NM_014704.4(CEP104):c.497G>A (p.Arg166Gln)	CEP104 (R166Q)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GUncertain significance
Select item 2139936	NM_014704.4(CEP104):c.2246A>C (p.Tyr749Ser)	CEP104 (Y749S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2105249	NM_014704.4(CEP104):c.906T>A (p.Phe302Leu)	CEP104 (F302L)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GUncertain significance
Select item 2103080	NM_014704.4(CEP104):c.1660-4A>C	CEP104, LOC126805587	Single nucleotide variant (intron variant)	Joubert syndrome 25	GLikely benign
Select item 2084493	NM_014704.4(CEP104):c.1906A>G (p.Met636Val)	CEP104, LOC126805586 (M636V)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GUncertain significance
Select item 2076606	NM_014704.4(CEP104):c.2151+15C>T	CEP104	Single nucleotide variant (intron variant)	Joubert syndrome 25	GLikely benign
Select item 2072188	NM_014704.4(CEP104):c.163C>T (p.Arg55Ter)	CEP104 (R55*)	Single nucleotide variant (nonsense)	Joubert syndrome 25	GPathogenic
Select item 2065908	NM_014704.4(CEP104):c.2504-14T>A	CEP104	Single nucleotide variant (intron variant)	Joubert syndrome 25	GBenign
Select item 2065194	NM_014704.4(CEP104):c.817A>C (p.Lys273Gln)	CEP104 (K273Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2062506	NM_014704.4(CEP104):c.1496C>T (p.Ala499Val)	CEP104 (A499V)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GUncertain significance
Select item 2060092	NM_014704.4(CEP104):c.931C>T (p.Arg311Cys)	CEP104 (R311C)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GUncertain significance
Select item 2058995	NM_014704.4(CEP104):c.1635C>T (p.Arg545=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 2058633	NM_014704.4(CEP104):c.254C>T (p.Ala85Val)	CEP104 (A85V)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GUncertain significance
Select item 2058438	NM_014704.4(CEP104):c.65G>A (p.Arg22Gln)	CEP104 (R22Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2053647	NM_014704.4(CEP104):c.2730G>A (p.Pro910=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 2048546	NM_014704.4(CEP104):c.45C>T (p.His15=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 2045173	NM_014704.4(CEP104):c.83C>T (p.Ala28Val)	CEP104 (A28V)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GUncertain significance
Select item 2041302	NM_014704.4(CEP104):c.838C>T (p.Arg280Cys)	CEP104 (R280C)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GUncertain significance
Select item 2040256	NM_014704.4(CEP104):c.772C>T (p.Arg258Cys)	CEP104 (R258C)	Single nucleotide variant (missense variant)	Joubert syndrome 25 +1 more	GUncertain significance
Select item 2039650	NM_014704.4(CEP104):c.1331A>G (p.Tyr444Cys)	CEP104 (Y444C)	Single nucleotide variant (missense variant)	Joubert syndrome 25 +1 more	GUncertain significance
Select item 2039361	NM_014704.4(CEP104):c.1317+17_1317+18insC	CEP104	Insertion (intron variant)	Joubert syndrome 25	GLikely benign
Select item 2039180	NM_014704.4(CEP104):c.1317+16A>C	CEP104	Single nucleotide variant (intron variant)	Joubert syndrome 25	GLikely benign
Select item 2037282	NM_014704.4(CEP104):c.961A>G (p.Met321Val)	CEP104 (M321V)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GUncertain significance
Select item 2003931	NM_014704.4(CEP104):c.113+7A>C	CEP104	Single nucleotide variant (intron variant)	Joubert syndrome 25	GLikely benign
Select item 2003877	NM_014704.4(CEP104):c.2183A>G (p.Asn728Ser)	CEP104 (N728S)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GUncertain significance
Select item 1990817	NM_014704.4(CEP104):c.2503+17A>G	CEP104	Single nucleotide variant (intron variant)	Joubert syndrome 25	GLikely benign
Select item 1978698	NM_014704.4(CEP104):c.566+12G>A	CEP104	Single nucleotide variant (intron variant)	Joubert syndrome 25	GLikely benign
Select item 1974395	NM_014704.4(CEP104):c.1651T>G (p.Phe551Val)	CEP104 (F551V)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GUncertain significance
Select item 1966020	NM_014704.4(CEP104):c.1473C>T (p.Asp491=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25 +1 more	GLikely benign
Select item 1954956	NM_014704.4(CEP104):c.927C>T (p.Leu309=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 1952657	NM_014704.4(CEP104):c.489+15T>C	CEP104	Single nucleotide variant (intron variant)	Joubert syndrome 25	GLikely benign
Select item 1949574	NM_014704.4(CEP104):c.1216A>G (p.Ser406Gly)	CEP104 (S406G)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GUncertain significance
Select item 1932637	NM_014704.4(CEP104):c.984A>G (p.Glu328=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 1806317	NM_014704.4(CEP104):c.1264G>A (p.Glu422Lys)	CEP104 (E422K)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GUncertain significance
Select item 1805018	NM_014704.4(CEP104):c.2503+1G>A	CEP104	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1691031	NM_014704.4(CEP104):c.1879G>T (p.Glu627Ter)	CEP104, LOC126805586 (E627*)	Single nucleotide variant (nonsense)	See cases +1 more	GPathogenic/Likely pathogenic
Select item 1675337	NM_014704.4(CEP104):c.2649G>A (p.Pro883=)	CEP104	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1674532	NM_014704.4(CEP104):c.1950A>G (p.Pro650=)	CEP104, LOC126805586	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 1674149	NM_014704.4(CEP104):c.1485+14G>A	CEP104	Single nucleotide variant (intron variant)	Joubert syndrome 25	GLikely benign
Select item 1667990	NM_014704.4(CEP104):c.1485+20G>A	CEP104	Single nucleotide variant (intron variant)	Joubert syndrome 25	GLikely benign
Select item 1661013	NM_014704.4(CEP104):c.1851C>T (p.Ala617=)	CEP104, LOC126805586	Single nucleotide variant (synonymous variant)	Joubert syndrome 25 +1 more	GLikely benign
Select item 1623072	NM_014704.4(CEP104):c.2658G>A (p.Gln886=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 1623071	NM_014704.4(CEP104):c.2662+10A>T	CEP104	Single nucleotide variant (intron variant)	Joubert syndrome 25	GConflicting classifications of pathogenicity
Select item 1615157	NM_014704.4(CEP104):c.2514G>A (p.Pro838=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 1600188	NM_014704.4(CEP104):c.1317+15_1317+16insAAC	CEP104	Insertion (intron variant)	Joubert syndrome 25	GBenign
Select item 1595984	NM_014704.4(CEP104):c.729G>A (p.Leu243=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25 +1 more	GLikely benign
Select item 1584350	NM_014704.4(CEP104):c.2766C>T (p.Tyr922=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 1565962	NM_014704.4(CEP104):c.390C>T (p.His130=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 1556628	NM_014704.4(CEP104):c.113+14G>A	CEP104	Single nucleotide variant (intron variant)	Joubert syndrome 25	GLikely benign
Select item 1553368	NM_014704.4(CEP104):c.736-19_736-18delinsAT	CEP104	Indel (intron variant)	Joubert syndrome 25	GLikely benign
Select item 1550780	NM_014704.4(CEP104):c.2127G>C (p.Leu709=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 1546702	NM_014704.4(CEP104):c.1226G>A (p.Arg409Gln)	CEP104 (R409Q)	Single nucleotide variant (missense variant)	Joubert syndrome 25 +1 more	GConflicting classifications of pathogenicity
Select item 1538124	NM_014704.4(CEP104):c.2214T>C (p.Pro738=)	CEP104	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 1519223	NM_014704.4(CEP104):c.2151+3T>C	CEP104	Single nucleotide variant (intron variant)	Joubert syndrome 25	GUncertain significance
Select item 1518350	NM_014704.4(CEP104):c.686G>A (p.Arg229His)	CEP104 (R229H)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GUncertain significance
Select item 1507925	NM_014704.4(CEP104):c.535G>A (p.Glu179Lys)	CEP104 (E179K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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