ClinVar for MedGen (Select 482396) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236134	NM_001044385.3(TMEM237):c.487C>T (p.Gln163Ter)	TMEM237 (Q155* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 14	GPathogenic
Select item 3064085	NM_001044385.3(TMEM237):c.137-2A>G	TMEM237	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 14	GLikely pathogenic
Select item 2980918	NM_001044385.3(TMEM237):c.395+16T>C	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 2960309	NM_001044385.3(TMEM237):c.1002C>T (p.His334=)	TMEM237	Single nucleotide variant (synonymous variant)	Joubert syndrome 14	GLikely benign
Select item 2913983	NM_001044385.3(TMEM237):c.943+15dup	TMEM237	Duplication (intron variant)	Joubert syndrome 14	GLikely benign
Select item 2868726	NM_001044385.3(TMEM237):c.310A>G (p.Ser104Gly)	TMEM237 (S104G +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 2844082	NM_001044385.3(TMEM237):c.1038-16G>A	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 2805943	NM_001044385.3(TMEM237):c.274+9A>G	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 2802545	NM_001044385.3(TMEM237):c.554-5C>T	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 2800168	NM_001044385.3(TMEM237):c.435A>G (p.Leu145=)	TMEM237	Single nucleotide variant (synonymous variant)	Joubert syndrome 14	GLikely benign
Select item 2796739	NM_001044385.3(TMEM237):c.1089C>T (p.Leu363=)	TMEM237	Single nucleotide variant (synonymous variant)	Joubert syndrome 14	GLikely benign
Select item 2789609	NM_001044385.3(TMEM237):c.832T>C (p.Leu278=)	TMEM237	Single nucleotide variant (synonymous variant)	Joubert syndrome 14	GLikely benign
Select item 2772125	NM_001044385.3(TMEM237):c.1160-23_1160-20dup	TMEM237	Duplication (intron variant)	Joubert syndrome 14	GLikely benign
Select item 2768743	NM_001044385.3(TMEM237):c.1161G>A (p.Glu387=)	TMEM237	Single nucleotide variant (synonymous variant)	Joubert syndrome 14	GLikely benign
Select item 2765519	NM_001044385.3(TMEM237):c.113A>C (p.Lys38Thr)	TMEM237 (K38T +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 2722397	NM_001044385.3(TMEM237):c.966A>G (p.Leu322=)	TMEM237	Single nucleotide variant (synonymous variant)	Joubert syndrome 14	GLikely benign
Select item 2712882	NM_001044385.3(TMEM237):c.274+14C>G	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 2437112	NM_001044385.3(TMEM237):c.889T>C (p.Ser297Pro)	TMEM237 (S289P +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 2423586	NC_000002.11:g.(?_202488978)_(202508123_?)dup	TMEM237	Duplication	Joubert syndrome 14	GUncertain significance
Select item 2423585	NC_000002.11:g.(?_202501451)_(202633608_?)del	ALS2, MPP4 +1 more	Deletion	Infantile-onset ascending hereditary spastic paralysis +1 more	GPathogenic
Select item 2423584	NC_000002.11:g.(?_202508062)_(202508123_?)del	TMEM237	Deletion	Joubert syndrome 14	GPathogenic
Select item 2419572	NM_001044385.3(TMEM237):c.42+18C>T	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 2416503	NM_001044385.3(TMEM237):c.284C>A (p.Thr95Asn)	TMEM237 (T87N +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 2414480	NM_001044385.3(TMEM237):c.396-4A>G	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 2194411	NM_001044385.3(TMEM237):c.91C>T (p.Leu31Phe)	TMEM237 (L23F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2190124	NM_001044385.3(TMEM237):c.396-15A>G	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 2189661	NM_001044385.3(TMEM237):c.34G>A (p.Gly12Ser)	LOC129935417, TMEM237 (G12S)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 2188320	NM_001044385.3(TMEM237):c.413_420del (p.Glu138fs)	TMEM237 (E130fs +1 more)	Deletion (frameshift variant)	Joubert syndrome 14	GPathogenic
Select item 2163620	NM_001044385.3(TMEM237):c.1038-13T>C	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 2159291	NM_001044385.3(TMEM237):c.326G>A (p.Arg109Gln)	TMEM237 (R101Q +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 2159118	NM_001044385.3(TMEM237):c.804A>G (p.Leu268=)	TMEM237	Single nucleotide variant (synonymous variant)	Joubert syndrome 14	GLikely benign
Select item 2155482	NM_001044385.3(TMEM237):c.301A>G (p.Lys101Glu)	TMEM237 (K101E +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 14 +1 more	GUncertain significance
Select item 2151929	NM_001044385.3(TMEM237):c.274+18G>C	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 2151030	NM_001044385.3(TMEM237):c.136+20T>C	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 2147441	NM_001044385.3(TMEM237):c.725G>A (p.Trp242Ter)	TMEM237 (W234* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome and related disorders +1 more	GPathogenic/Likely pathogenic
Select item 2146565	NM_001044385.3(TMEM237):c.1141G>A (p.Gly381Ser)	TMEM237 (G381S +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 2139921	NM_001044385.3(TMEM237):c.292A>G (p.Thr98Ala)	TMEM237 (T90A +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 2139435	NM_001044385.3(TMEM237):c.1159+15A>C	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 2132621	NM_001044385.3(TMEM237):c.850A>G (p.Thr284Ala)	TMEM237 (T276A +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 2125128	NM_001044385.3(TMEM237):c.79+5G>C	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GUncertain significance
Select item 2120625	NM_001044385.3(TMEM237):c.694dup (p.Ser232fs)	TMEM237 (S232fs +1 more)	Duplication (frameshift variant)	Joubert syndrome 14	GPathogenic
Select item 2120213	NM_001044385.3(TMEM237):c.128dup (p.Asn43fs)	TMEM237 (N35fs +1 more)	Duplication (frameshift variant)	Joubert syndrome 14	GPathogenic
Select item 2119634	NM_001044385.3(TMEM237):c.378A>G (p.Lys126=)	TMEM237	Single nucleotide variant (synonymous variant)	Joubert syndrome 14	GLikely benign
Select item 2118055	NM_001044385.3(TMEM237):c.42+7G>T	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 2116045	NM_001044385.3(TMEM237):c.1027G>A (p.Gly343Ser)	TMEM237 (G343S +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 2113089	NM_001044385.3(TMEM237):c.131C>T (p.Thr44Ile)	TMEM237 (T36I +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 2111284	NM_001044385.3(TMEM237):c.870-4C>G	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 2111125	NM_001044385.3(TMEM237):c.319T>G (p.Leu107Val)	TMEM237 (L107V +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 2109800	NM_001044385.3(TMEM237):c.678-15C>A	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 2107127	NM_001044385.3(TMEM237):c.510T>G (p.Thr170=)	TMEM237	Single nucleotide variant (synonymous variant)	Joubert syndrome 14	GLikely benign
Select item 2102038	NM_001044385.3(TMEM237):c.137-14_137-13del	TMEM237	Microsatellite (intron variant)	Joubert syndrome 14	GLikely benign
Select item 2097385	NM_001044385.3(TMEM237):c.869+15T>C	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 2092819	NM_001044385.3(TMEM237):c.75-19G>A	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 2091643	NM_001044385.3(TMEM237):c.300G>T (p.Lys100Asn)	TMEM237 (K100N +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 2078877	NM_001044385.3(TMEM237):c.860C>A (p.Ala287Asp)	TMEM237 (A279D +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 2077109	NM_001044385.3(TMEM237):c.1015TCT[1] (p.Ser340del)	TMEM237 (S332del +1 more)	Microsatellite (inframe_deletion)	Joubert syndrome 14	GUncertain significance
Select item 2075603	NM_001044385.3(TMEM237):c.75-5G>A	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 2068122	NM_001044385.3(TMEM237):c.137-17A>G	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 2051567	NM_001044385.3(TMEM237):c.44G>A (p.Arg15His)	TMEM237 (R15H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2051261	NM_001044385.3(TMEM237):c.557G>T (p.Arg186Ile)	TMEM237 (R178I +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 2050269	NM_001044385.3(TMEM237):c.1114T>C (p.Ser372Pro)	TMEM237 (S364P +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 2044924	NM_001044385.3(TMEM237):c.1159+17dup	TMEM237	Duplication (intron variant)	Joubert syndrome 14	GBenign
Select item 2043081	NM_001044385.3(TMEM237):c.205A>G (p.Thr69Ala)	TMEM237 (T61A +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 2041502	NM_001044385.3(TMEM237):c.267A>G (p.Leu89=)	TMEM237	Single nucleotide variant (synonymous variant)	Joubert syndrome 14	GLikely benign
Select item 2035934	NM_001044385.3(TMEM237):c.869+11T>C	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 2022482	NM_001044385.3(TMEM237):c.42+6C>T	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GUncertain significance
Select item 2021280	NM_001044385.3(TMEM237):c.396-2A>G	TMEM237	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 14	GLikely pathogenic
Select item 2010315	NM_001044385.3(TMEM237):c.678-6A>G	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 2010065	NM_001044385.3(TMEM237):c.155G>T (p.Gly52Val)	TMEM237 (G44V +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 2004454	NM_001044385.3(TMEM237):c.869+8C>G	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 1997905	NM_001044385.3(TMEM237):c.970C>G (p.Leu324Val)	TMEM237 (L316V +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 1991192	NM_001044385.3(TMEM237):c.74+12_74+14del	TMEM237	Deletion (intron variant)	Joubert syndrome 14	GUncertain significance
Select item 1986642	NM_001044385.3(TMEM237):c.43C>T (p.Arg15Cys)	TMEM237 (R7C +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 1976597	NM_001044385.3(TMEM237):c.677+18A>G	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 1970345	NM_001044385.3(TMEM237):c.59T>G (p.Leu20Arg)	TMEM237 (L12R +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 1969726	NM_001044385.3(TMEM237):c.1220C>T (p.Ser407Phe)	TMEM237 (S407F +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 1948356	NM_001044385.3(TMEM237):c.1217C>A (p.Ala406Asp)	TMEM237 (A398D +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 14 +1 more	GUncertain significance
Select item 1930721	NM_001044385.3(TMEM237):c.346G>A (p.Ala116Thr)	TMEM237 (A116T +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 1918054	NM_001044385.3(TMEM237):c.683T>C (p.Ile228Thr)	TMEM237 (I228T +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 1916837	NM_001044385.3(TMEM237):c.1078G>A (p.Val360Met)	TMEM237 (V360M +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 1906010	NM_001044385.3(TMEM237):c.1051G>A (p.Glu351Lys)	TMEM237 (E343K +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 1904311	NM_001044385.3(TMEM237):c.1110A>C (p.Gly370=)	TMEM237	Single nucleotide variant (synonymous variant)	Joubert syndrome 14	GLikely benign
Select item 1896390	NM_001044385.3(TMEM237):c.795C>T (p.Tyr265=)	TMEM237	Single nucleotide variant (synonymous variant)	Joubert syndrome 14	GLikely benign
Select item 1672727	NM_001044385.3(TMEM237):c.69G>T (p.Val23=)	TMEM237	Single nucleotide variant (synonymous variant)	Joubert syndrome 14	GLikely benign
Select item 1635975	NM_001044385.3(TMEM237):c.1159+20G>A	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 1619669	NM_001044385.3(TMEM237):c.75-7G>A	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 1619566	NM_001044385.3(TMEM237):c.204A>G (p.Ser68=)	TMEM237	Single nucleotide variant (synonymous variant)	Joubert syndrome 14 +1 more	GLikely benign
Select item 1619308	NM_001044385.3(TMEM237):c.869+16C>T	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 1617036	NM_001044385.3(TMEM237):c.43-6C>T	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 1606058	NM_001044385.3(TMEM237):c.813A>G (p.Pro271=)	TMEM237	Single nucleotide variant (synonymous variant)	Joubert syndrome 14	GLikely benign
Select item 1602118	NM_001044385.3(TMEM237):c.879T>C (p.Phe293=)	TMEM237	Single nucleotide variant (synonymous variant)	Joubert syndrome 14	GLikely benign
Select item 1599530	NM_001044385.3(TMEM237):c.1159+17del	TMEM237	Deletion (intron variant)	Joubert syndrome 14	GBenign
Select item 1597037	NM_001044385.3(TMEM237):c.554-3dup	TMEM237	Duplication (intron variant)	Joubert syndrome 14	GLikely benign
Select item 1596412	NM_001044385.3(TMEM237):c.678-20_678-17del	TMEM237	Deletion (intron variant)	Joubert syndrome 14	GBenign
Select item 1590670	NM_001044385.3(TMEM237):c.137-19C>G	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 1584693	NM_001044385.3(TMEM237):c.944-16T>C	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 1582172	NM_001044385.3(TMEM237):c.43-8C>T	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 1578459	NM_001044385.3(TMEM237):c.42+16C>G	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 1575185	NM_001044385.3(TMEM237):c.136+17T>C	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign
Select item 1560855	NM_001044385.3(TMEM237):c.136+19T>C	TMEM237	Single nucleotide variant (intron variant)	Joubert syndrome 14	GLikely benign

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