ClinVar for MedGen (Select 87466) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340084	NM_022436.3(ABCG5):c.1650-2A>T	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant +1 more)	Sitosterolemia	GUncertain significance
Select item 3340083	NM_022437.3(ABCG8):c.1226A>C (p.Asn409Thr)	ABCG8 (N408T +1 more)	Single nucleotide variant (missense variant)	Sitosterolemia	GUncertain significance
Select item 3247169	NC_000002.11:g.(?_44047116)_(44053814_?)del	ABCG5	Deletion	Sitosterolemia	GLikely pathogenic
Select item 3247168	NC_000002.11:g.(?_44065656)_(44105052_?)del	ABCG5, ABCG8	Deletion	Sitosterolemia	GPathogenic
Select item 3015634	NM_022436.3(ABCG5):c.265+16A>T	ABCG5	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 3001337	NM_022436.3(ABCG5):c.1464-16G>A	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 3000064	NM_022436.3(ABCG5):c.1119-15del	ABCG5, DYNC2LI1	Deletion (intron variant)	Sitosterolemia	GLikely benign
Select item 2993527	NM_022436.3(ABCG5):c.153G>A (p.Val51=)	ABCG5	Single nucleotide variant (synonymous variant)	Sitosterolemia	GLikely benign
Select item 2987013	NM_022436.3(ABCG5):c.1776T>G (p.Val592=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia	GLikely benign
Select item 2974439	NM_022436.3(ABCG5):c.403-13G>A	ABCG5	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2970887	NM_022436.3(ABCG5):c.75G>A (p.Leu25=)	ABCG5	Single nucleotide variant (synonymous variant)	Sitosterolemia	GLikely benign
Select item 2969942	NM_022436.3(ABCG5):c.1913G>A (p.Gly638Glu)	ABCG5, DYNC2LI1 (G638E)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia	GUncertain significance
Select item 2960285	NM_022436.3(ABCG5):c.531G>C (p.Leu177=)	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia	GLikely benign
Select item 2959394	NM_022436.3(ABCG5):c.656C>G (p.Pro219Arg)	ABCG5, DYNC2LI1 (P219R)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia	GUncertain significance
Select item 2958736	NM_022436.3(ABCG5):c.265+7T>A	ABCG5	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2919657	NM_022436.3(ABCG5):c.1325-4C>G	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2919626	NM_022436.3(ABCG5):c.384C>T (p.Cys128=)	ABCG5	Single nucleotide variant (synonymous variant)	Sitosterolemia	GLikely benign
Select item 2918183	NM_022436.3(ABCG5):c.1463+20A>T	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2917894	NM_022436.3(ABCG5):c.501+14C>G	ABCG5	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2915822	NM_022436.3(ABCG5):c.1118+20G>A	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2914858	NM_022436.3(ABCG5):c.1A>G (p.Met1Val)	ABCG5 (M1V)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia	GUncertain significance
Select item 2910987	NM_022436.3(ABCG5):c.1649+10_1649+12del	ABCG5, DYNC2LI1	Deletion (intron variant)	Sitosterolemia	GLikely benign
Select item 2910317	NM_022436.3(ABCG5):c.988A>G (p.Lys330Glu)	ABCG5, DYNC2LI1 (K330E)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia	GUncertain significance
Select item 2910094	NM_022436.3(ABCG5):c.1762+11T>C	DYNC2LI1, ABCG5	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2903014	NM_022436.3(ABCG5):c.1528dup (p.His510fs)	ABCG5, DYNC2LI1 (H510fs)	Duplication (frameshift variant +1 more)	Sitosterolemia	GPathogenic
Select item 2901191	NM_022436.3(ABCG5):c.720C>T (p.Arg240=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia	GLikely benign
Select item 2889511	NM_022436.3(ABCG5):c.735G>T (p.Val245=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia	GLikely benign
Select item 2889432	NM_022436.3(ABCG5):c.1273C>T (p.Gln425Ter)	ABCG5, DYNC2LI1 (Q425*)	Single nucleotide variant (nonsense +1 more)	Sitosterolemia	GPathogenic
Select item 2887181	NM_022436.3(ABCG5):c.1763-16A>C	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2885903	NM_022436.3(ABCG5):c.1119-8_1119-5del	ABCG5, DYNC2LI1	Microsatellite (intron variant)	Sitosterolemia	GLikely benign
Select item 2884018	NM_022436.3(ABCG5):c.144-17T>G	ABCG5	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2883677	NM_022436.3(ABCG5):c.711A>G (p.Glu237=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia	GLikely benign
Select item 2864473	NM_022436.3(ABCG5):c.1324_1324+15del	ABCG5, DYNC2LI1	Deletion (intron variant +1 more)	Sitosterolemia	GLikely pathogenic
Select item 2857888	NM_022436.3(ABCG5):c.1763-18C>T	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2856917	NM_022436.3(ABCG5):c.600G>A (p.Arg200=)	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia	GLikely benign
Select item 2853336	NM_022436.3(ABCG5):c.266-9G>T	ABCG5	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2848887	NM_022436.3(ABCG5):c.237G>A (p.Gly79=)	ABCG5	Single nucleotide variant (synonymous variant)	Sitosterolemia	GLikely benign
Select item 2843622	NM_022436.3(ABCG5):c.402+18A>T	ABCG5	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2839438	NM_022436.3(ABCG5):c.651T>C (p.Asp217=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia	GLikely benign
Select item 2832974	NM_022436.3(ABCG5):c.1650-14T>C	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2818560	NM_022436.3(ABCG5):c.336G>A (p.Glu112=)	ABCG5	Single nucleotide variant (synonymous variant)	Sitosterolemia	GLikely benign
Select item 2812590	NM_022436.3(ABCG5):c.918A>C (p.Ser306=)	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant +1 more)	Sitosterolemia	GLikely benign
Select item 2809838	NM_022436.3(ABCG5):c.357G>A (p.Ala119=)	ABCG5	Single nucleotide variant (synonymous variant)	Sitosterolemia	GLikely benign
Select item 2801849	NM_022436.3(ABCG5):c.774+13A>T	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2794089	NM_022436.3(ABCG5):c.1008T>C (p.His336=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia	GLikely benign
Select item 2771050	NM_022436.3(ABCG5):c.459G>A (p.Leu153=)	ABCG5	Single nucleotide variant (synonymous variant)	Sitosterolemia	GLikely benign
Select item 2756446	NM_022436.3(ABCG5):c.537T>A (p.His179Gln)	DYNC2LI1, ABCG5 (H179Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia	GUncertain significance
Select item 2750328	NM_022436.3(ABCG5):c.1119-11T>C	DYNC2LI1, ABCG5	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2745841	NM_022436.3(ABCG5):c.421A>C (p.Ser141Arg)	ABCG5 (S141R)	Single nucleotide variant (missense variant)	Sitosterolemia	GUncertain significance
Select item 2740541	NM_022436.3(ABCG5):c.1118+17T>C	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2740333	NM_022436.3(ABCG5):c.367G>T (p.Glu123Ter)	ABCG5 (E123*)	Single nucleotide variant (nonsense)	Sitosterolemia	GPathogenic
Select item 2739647	NM_022436.3(ABCG5):c.706G>C (p.Val236Leu)	ABCG5, DYNC2LI1 (V236L)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia	GUncertain significance
Select item 2739573	NM_022436.3(ABCG5):c.1762+15T>C	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2722141	NM_022436.3(ABCG5):c.1763-1G>A	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant +1 more)	Sitosterolemia	GPathogenic
Select item 2720733	NM_022436.3(ABCG5):c.502-7C>T	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia	GLikely benign
Select item 2709228	NM_022436.3(ABCG5):c.1527C>T (p.Pro509=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia	GLikely benign
Select item 2694289	NM_022436.3(ABCG5):c.939A>G (p.Glu313=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia	GLikely benign
Select item 2561770	NM_022436.3(ABCG5):c.757C>T (p.Arg253Cys)	ABCG5, DYNC2LI1 (R253C)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +1 more	GUncertain significance
Select item 2502210	NM_022436.3(ABCG5):c.1799G>A (p.Cys600Tyr)	ABCG5, DYNC2LI1 (C600Y)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +1 more	GUncertain significance
Select item 2426862	NM_022436.3(ABCG5):c.547C>T (p.Arg183Ter)	ABCG5, DYNC2LI1 (R183*)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype +1 more	GPathogenic
Select item 2426745	NC_000002.11:g.(?_44047034)_(44047259_?)del	ABCG5	Deletion	Sitosterolemia	GUncertain significance
Select item 2426744	NC_000002.11:g.(?_44001278)_(44209593_?)dup	ABCG5, ABCG8 +2 more	Duplication	not provided	GUncertain significance
Select item 2421742	NM_022436.3(ABCG5):c.978A>G (p.Glu326=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia	GLikely benign
Select item 2420955	NM_022436.3(ABCG5):c.273G>A (p.Gly91=)	ABCG5	Single nucleotide variant (synonymous variant)	Sitosterolemia	GLikely benign
Select item 2419973	NM_022436.3(ABCG5):c.680C>G (p.Thr227Ser)	ABCG5, DYNC2LI1 (T227S)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +2 more	GUncertain significance
Select item 2418039	NM_022436.3(ABCG5):c.343G>A (p.Val115Met)	ABCG5 (V115M)	Single nucleotide variant (missense variant)	Sitosterolemia +1 more	GUncertain significance
Select item 2203054	NM_022436.3(ABCG5):c.1311C>G (p.Asn437Lys)	ABCG5, DYNC2LI1 (N437K)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia	GLikely pathogenic
Select item 2203052	NM_022436.3(ABCG5):c.1528del (p.His510fs)	DYNC2LI1, ABCG5 (H510fs)	Deletion (frameshift variant +1 more)	Sitosterolemia	GPathogenic
Select item 2202183	NM_022436.3(ABCG5):c.1180C>A (p.Leu394Met)	ABCG5, DYNC2LI1 (L394M)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +1 more	GUncertain significance
Select item 2200694	NM_022436.3(ABCG5):c.1330G>A (p.Val444Met)	ABCG5, DYNC2LI1 (V444M)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia	GUncertain significance
Select item 2199424	NM_022436.3(ABCG5):c.1886C>G (p.Ser629Ter)	ABCG5, DYNC2LI1 (S629*)	Single nucleotide variant (nonsense +1 more)	Sitosterolemia +1 more	GPathogenic/Likely pathogenic
Select item 2197072	NM_022436.3(ABCG5):c.598C>T (p.Arg200Trp)	ABCG5, DYNC2LI1 (R200W)	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia	GUncertain significance
Select item 2194710	NM_022436.3(ABCG5):c.1205T>C (p.Phe402Ser)	ABCG5, DYNC2LI1 (F402S)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +1 more	GUncertain significance
Select item 2190161	NM_022436.3(ABCG5):c.1324+8C>T	DYNC2LI1, ABCG5	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2187003	NM_022436.3(ABCG5):c.723G>T (p.Arg241Ser)	ABCG5, DYNC2LI1 (R241S)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +1 more	GUncertain significance
Select item 2166536	NM_022436.3(ABCG5):c.543A>C (p.Ala181=)	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia	GLikely benign
Select item 2163760	NM_022436.3(ABCG5):c.1460A>G (p.Tyr487Cys)	ABCG5, DYNC2LI1 (Y487C)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia	GUncertain significance
Select item 2159795	NM_022436.3(ABCG5):c.1165C>T (p.Arg389Cys)	ABCG5, DYNC2LI1 (R389C)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia	GUncertain significance
Select item 2154659	NM_022436.3(ABCG5):c.138C>T (p.Ser46=)	ABCG5	Single nucleotide variant (synonymous variant)	Sitosterolemia	GLikely benign
Select item 2148935	NM_022436.3(ABCG5):c.1043T>C (p.Leu348Pro)	ABCG5, DYNC2LI1 (L348P)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia	GUncertain significance
Select item 2146331	NM_022436.3(ABCG5):c.1365C>A (p.Asp455Glu)	ABCG5, DYNC2LI1 (D455E)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +1 more	GUncertain significance
Select item 2143680	NM_022436.3(ABCG5):c.905-3T>C	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GUncertain significance
Select item 2142427	NM_022436.3(ABCG5):c.225C>T (p.Tyr75=)	ABCG5	Single nucleotide variant (synonymous variant)	Sitosterolemia	GLikely benign
Select item 2139605	NM_022436.3(ABCG5):c.1271A>C (p.Tyr424Ser)	ABCG5, DYNC2LI1 (Y424S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2139297	NM_022436.3(ABCG5):c.676A>G (p.Met226Val)	ABCG5, DYNC2LI1 (M226V)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia	GUncertain significance
Select item 2139198	NM_022436.3(ABCG5):c.1209C>T (p.Phe403=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia	GUncertain significance
Select item 2138936	NM_022436.3(ABCG5):c.775-16T>A	DYNC2LI1, ABCG5	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2135873	NM_022436.3(ABCG5):c.266-5C>G	ABCG5	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2135345	NM_022436.3(ABCG5):c.402+3G>T	ABCG5	Single nucleotide variant (intron variant)	Sitosterolemia	GUncertain significance
Select item 2123800	NM_022436.3(ABCG5):c.719G>T (p.Arg240Leu)	ABCG5, DYNC2LI1 (R240L)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia	GUncertain significance
Select item 2123691	NM_022436.3(ABCG5):c.274A>G (p.Lys92Glu)	ABCG5 (K92E)	Single nucleotide variant (missense variant)	Sitosterolemia	GUncertain significance
Select item 2123151	NM_022436.3(ABCG5):c.1188G>C (p.Met396Ile)	ABCG5, DYNC2LI1 (M396I)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia	GUncertain significance
Select item 2111434	NM_022436.3(ABCG5):c.1681dup (p.Ile561fs)	ABCG5, DYNC2LI1 (I561fs)	Duplication (frameshift variant +1 more)	Sitosterolemia	GPathogenic
Select item 2102306	NM_022436.3(ABCG5):c.736G>A (p.Val246Ile)	ABCG5, DYNC2LI1 (V246I)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia	GUncertain significance
Select item 2082738	NM_022436.3(ABCG5):c.1259T>G (p.Val420Gly)	ABCG5, DYNC2LI1 (V420G)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +1 more	GUncertain significance
Select item 2079540	NM_022436.3(ABCG5):c.697G>A (p.Val233Ile)	ABCG5, DYNC2LI1 (V233I)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +1 more	GUncertain significance
Select item 2073368	NM_022436.3(ABCG5):c.901T>C (p.Tyr301His)	ABCG5, DYNC2LI1 (Y301H)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia	GUncertain significance
Select item 2068768	NM_022436.3(ABCG5):c.1452T>G (p.Ser484Arg)	ABCG5, DYNC2LI1 (S484R)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +1 more	GUncertain significance
Select item 2064668	NM_022436.3(ABCG5):c.914C>T (p.Thr305Met)	ABCG5, DYNC2LI1 (T305M)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia	GUncertain significance
Select item 2063983	NM_022436.3(ABCG5):c.98C>T (p.Pro33Leu)	ABCG5 (P33L)	Single nucleotide variant (missense variant)	Sitosterolemia	GUncertain significance

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