ClinVar for MedGen (Select 855172) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065827	NM_006642.5(SDCCAG8):c.420+1G>A	SDCCAG8	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 16	GLikely pathogenic
Select item 2954295	NM_006642.5(SDCCAG8):c.1887G>A (p.Arg629=)	SDCCAG8	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2954172	NM_006642.5(SDCCAG8):c.306+12C>T	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2953390	NM_006642.5(SDCCAG8):c.933A>G (p.Glu311=)	SDCCAG8	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2953020	NM_006642.5(SDCCAG8):c.2113-11_2113-8dup	AKT3, SDCCAG8	Duplication (synonymous variant +2 more)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2952517	NM_006642.5(SDCCAG8):c.963C>G (p.Ser321=)	SDCCAG8	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2952081	NM_006642.5(SDCCAG8):c.930-17T>C	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2951908	NM_006642.5(SDCCAG8):c.68-19C>T	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2951852	NM_006642.5(SDCCAG8):c.1357-17T>C	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2951815	NM_006642.5(SDCCAG8):c.787C>T (p.Gln263Ter)	SDCCAG8 (Q165* +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GPathogenic
Select item 2949759	NM_006642.5(SDCCAG8):c.1616+13C>T	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2945300	NM_006642.5(SDCCAG8):c.453A>G (p.Gln151=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2944021	NM_006642.5(SDCCAG8):c.1068+17G>A	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2943909	NM_006642.5(SDCCAG8):c.1260C>G (p.Ala420=)	SDCCAG8	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2943067	NM_006642.5(SDCCAG8):c.420+20T>C	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2942587	NM_006642.5(SDCCAG8):c.1418dup (p.Glu474fs)	SDCCAG8 (E173fs +3 more)	Duplication (frameshift variant)	Senior-Loken syndrome 7 +1 more	GPathogenic
Select item 2942141	NM_006642.5(SDCCAG8):c.930-7del	SDCCAG8	Deletion (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2940276	NM_006642.5(SDCCAG8):c.1284A>G (p.Glu428=)	SDCCAG8	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2939244	NM_006642.5(SDCCAG8):c.1177del (p.Met392_Met393insTer)	SDCCAG8	Deletion (nonsense)	Senior-Loken syndrome 7 +1 more	GPathogenic
Select item 2938685	NM_006642.5(SDCCAG8):c.1931A>G (p.Glu644Gly)	SDCCAG8 (E644G +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 2937967	NM_006642.5(SDCCAG8):c.43G>A (p.Gly15Arg)	SDCCAG8 (G15R)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 2937386	NM_006642.5(SDCCAG8):c.1745-8A>T	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2937350	NM_006642.5(SDCCAG8):c.264A>G (p.Glu88=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2936630	NM_006642.5(SDCCAG8):c.221-14del	SDCCAG8	Deletion (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2936181	NM_006642.5(SDCCAG8):c.68-20T>C	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2935790	NM_006642.5(SDCCAG8):c.220+7G>A	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2934878	NM_006642.5(SDCCAG8):c.28C>T (p.Leu10=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2933911	NM_006642.5(SDCCAG8):c.1984A>G (p.Arg662Gly)	SDCCAG8 (R564G +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 2933219	NM_006642.5(SDCCAG8):c.1616+19A>G	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2933083	NM_006642.5(SDCCAG8):c.1853+14T>C	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2932643	NM_006642.5(SDCCAG8):c.2070G>A (p.Glu690=)	AKT3, SDCCAG8	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 16 +2 more	GLikely benign
Select item 2931486	NM_006642.5(SDCCAG8):c.1336C>A (p.Arg446=)	SDCCAG8	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2930320	NM_006642.5(SDCCAG8):c.2113-20C>T	AKT3, SDCCAG8	Single nucleotide variant (3 prime UTR variant +2 more)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2930072	NM_006642.5(SDCCAG8):c.48G>A (p.Gln16=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2929952	NM_006642.5(SDCCAG8):c.1691A>G (p.Glu564Gly)	SDCCAG8 (E466G +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 2929169	NM_006642.5(SDCCAG8):c.221-13T>C	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2929163	NM_006642.5(SDCCAG8):c.307-8dup	SDCCAG8	Duplication (intron variant)	Senior-Loken syndrome 7 +1 more	GBenign
Select item 2927792	NM_006642.5(SDCCAG8):c.421-11_421-8del	SDCCAG8	Deletion (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2926778	NM_006642.5(SDCCAG8):c.1745-14A>C	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2921570	NM_006642.5(SDCCAG8):c.657T>C (p.Ala219=)	SDCCAG8	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2921358	NM_006642.5(SDCCAG8):c.221-10T>C	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2921324	NM_006642.5(SDCCAG8):c.1985+15A>G	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2921319	NM_006642.5(SDCCAG8):c.1671C>A (p.Ala557=)	SDCCAG8	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2633268	NM_006642.5(SDCCAG8):c.862C>T (p.Gln288Ter)	SDCCAG8 (Q190* +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +2 more	GPathogenic/Likely pathogenic
Select item 2425630	NC_000001.10:g.(?_243504321)_(243507653_?)del	SDCCAG8	Deletion	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2425629	NC_000001.10:g.(?_243456373)_(243456541_?)del	SDCCAG8	Deletion	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2425628	NC_000001.10:g.(?_243437825)_(243437978_?)del	SDCCAG8	Deletion	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2425627	NC_000001.10:g.(?_243507497)_(243507653_?)del	SDCCAG8	Deletion	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2425626	NC_000001.10:g.(?_243335979)_(243419562_?)del	CEP170, SDCCAG8	Deletion	Bardet-Biedl syndrome 16 +1 more	GPathogenic
Select item 2418220	NM_006642.5(SDCCAG8):c.557A>C (p.His186Pro)	SDCCAG8 (H186P +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 2417416	NM_006642.5(SDCCAG8):c.439A>G (p.Lys147Glu)	SDCCAG8 (K147E +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 2413440	NM_006642.5(SDCCAG8):c.865C>T (p.His289Tyr)	SDCCAG8 (H191Y +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2203016	NM_006642.5(SDCCAG8):c.1068+1G>A	SDCCAG8	Single nucleotide variant (splice donor variant)	Senior-Loken syndrome 7 +1 more	GLikely pathogenic
Select item 2200129	NM_006642.5(SDCCAG8):c.2108C>T (p.Thr703Ile)	AKT3, SDCCAG8 (T703I +3 more)	Single nucleotide variant (missense variant +1 more)	SDCCAG8-related disorder +2 more	GUncertain significance
Select item 2195568	NM_006642.5(SDCCAG8):c.1079A>C (p.Gln360Pro)	SDCCAG8 (Q59P +3 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2191503	NM_006642.5(SDCCAG8):c.2104C>T (p.Arg702Trp)	AKT3, SDCCAG8 (R401W +3 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 2183222	NM_006642.5(SDCCAG8):c.721T>C (p.Ser241Pro)	SDCCAG8 (S273P +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 2179960	NM_006642.5(SDCCAG8):c.245G>T (p.Arg82Leu)	SDCCAG8 (R82L)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2178310	NM_006642.5(SDCCAG8):c.1452G>C (p.Arg484Ser)	SDCCAG8 (R183S +3 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2177745	NM_006642.5(SDCCAG8):c.1439C>A (p.Ala480Glu)	SDCCAG8 (A382E +3 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2176785	NM_006642.5(SDCCAG8):c.1542A>C (p.Ala514=)	SDCCAG8	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2176103	NM_006642.5(SDCCAG8):c.11C>G (p.Ser4Cys)	SDCCAG8 (S4C)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 2175717	NM_006642.5(SDCCAG8):c.420+8T>C	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2174955	NM_006642.5(SDCCAG8):c.1473+14_1473+21del	SDCCAG8	Deletion (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2171560	NM_006642.5(SDCCAG8):c.1178T>A (p.Met393Lys)	SDCCAG8 (M425K +3 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2171139	NM_006642.5(SDCCAG8):c.543A>C (p.Ala181=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +2 more	GLikely benign
Select item 2167893	NM_006642.5(SDCCAG8):c.1833A>G (p.Glu611=)	SDCCAG8	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2165810	NM_006642.5(SDCCAG8):c.1186G>A (p.Glu396Lys)	SDCCAG8 (E396K +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 2165181	NM_006642.5(SDCCAG8):c.220+17A>G	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2160370	NM_006642.5(SDCCAG8):c.1357-13dup	SDCCAG8	Duplication (intron variant)	Senior-Loken syndrome 7 +1 more	GBenign
Select item 2160069	NM_006642.5(SDCCAG8):c.82del (p.Ser28fs)	SDCCAG8 (S28fs)	Deletion (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GPathogenic
Select item 2159016	NM_006642.5(SDCCAG8):c.894T>C (p.Thr298=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2159014	NM_006642.5(SDCCAG8):c.331A>G (p.Asn111Asp)	SDCCAG8 (N111D +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 2158979	NM_006642.5(SDCCAG8):c.398A>G (p.Glu133Gly)	SDCCAG8 (E133G +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 2156101	NM_006642.5(SDCCAG8):c.118G>A (p.Asp40Asn)	SDCCAG8 (D40N)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 2151346	NM_006642.5(SDCCAG8):c.263A>G (p.Glu88Gly)	SDCCAG8 (E88G)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2149904	NM_006642.5(SDCCAG8):c.761A>G (p.Gln254Arg)	SDCCAG8 (Q254R +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 2147542	NM_006642.5(SDCCAG8):c.676-3T>C	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 2143514	NM_006642.5(SDCCAG8):c.676-9T>C	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2143227	NM_006642.5(SDCCAG8):c.1357-12A>T	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2142848	NM_006642.5(SDCCAG8):c.1301A>T (p.Asn434Ile)	SDCCAG8 (N434I +3 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2141646	NM_006642.5(SDCCAG8):c.546+11T>C	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2138839	NM_006642.5(SDCCAG8):c.1854A>G (p.Arg618=)	SDCCAG8	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2135869	NM_006642.5(SDCCAG8):c.1755G>A (p.Gln585=)	SDCCAG8	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2135420	NM_006642.5(SDCCAG8):c.1764G>A (p.Leu588=)	SDCCAG8	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2127337	NM_006642.5(SDCCAG8):c.2112+20G>A	AKT3, SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2125566	NM_006642.5(SDCCAG8):c.1062A>C (p.Lys354Asn)	SDCCAG8 (K256N +3 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2124289	NM_006642.5(SDCCAG8):c.1854-18T>C	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2123908	NM_006642.5(SDCCAG8):c.1854-7C>T	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2123572	NM_006642.5(SDCCAG8):c.378T>G (p.Ser126=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2122926	NM_006642.5(SDCCAG8):c.1745-6T>C	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2122201	NM_006642.5(SDCCAG8):c.1421A>C (p.Glu474Ala)	SDCCAG8 (E506A +3 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2121666	NM_006642.5(SDCCAG8):c.1653G>A (p.Lys551=)	SDCCAG8	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2116435	NM_006642.5(SDCCAG8):c.209A>C (p.Gln70Pro)	SDCCAG8 (Q70P)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 2114010	NM_006642.5(SDCCAG8):c.62_64dup (p.Leu21_Arg22insLeu)	SDCCAG8	Duplication (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 2112450	NM_006642.5(SDCCAG8):c.1744+12G>A	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 2110877	NM_006642.5(SDCCAG8):c.1422G>A (p.Glu474=)	SDCCAG8	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 2109795	NM_006642.5(SDCCAG8):c.182C>A (p.Ala61Asp)	SDCCAG8 (A61D)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 2108925	NM_006642.5(SDCCAG8):c.124A>G (p.Thr42Ala)	SDCCAG8 (T42A)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 2107816	NM_006642.5(SDCCAG8):c.2021C>T (p.Ala674Val)	AKT3, SDCCAG8 (A706V +3 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance

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