Related gene-specific medical variations for Gene (Select 64240) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061652	NM_022436.3(ABCG5):c.888C>T (p.Asn296=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	ABCG5-related condition	GLikely benign
Select item 3061143	NM_022436.3(ABCG5):c.1060G>C (p.Val354Leu)	ABCG5, DYNC2LI1 (V354L)	Single nucleotide variant (missense variant +1 more)	ABCG5-related condition	GUncertain significance
Select item 3056236	NM_022436.3(ABCG5):c.1390A>C (p.Met464Leu)	ABCG5, DYNC2LI1 (M464L)	Single nucleotide variant (missense variant +1 more)	ABCG5-related condition	GUncertain significance
Select item 3054879	NM_022436.3(ABCG5):c.1629T>A (p.Leu543=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	ABCG5-related condition	GLikely benign
Select item 3047747	NM_022437.3(ABCG8):c.-5G>A	ABCG5, ABCG8	Single nucleotide variant (5 prime UTR variant)	ABCG8-related condition	GLikely benign
Select item 3036981	NM_022437.3(ABCG8):c.-33G>A	ABCG5, ABCG8	Single nucleotide variant (5 prime UTR variant)	ABCG8-related condition	GLikely benign
Select item 3035780	NM_001348913.2(DYNC2LI1):c.997G>C (p.Ala333Pro)	DYNC2LI1, ABCG5 (A332P +1 more)	Single nucleotide variant (missense variant)	DYNC2LI1-related condition	GBenign
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 2989355	NM_022437.3(ABCG8):c.52C>T (p.Gln18Ter)	ABCG5, ABCG8 (Q18*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2987013	NM_022436.3(ABCG5):c.1776T>G (p.Val592=)	DYNC2LI1, ABCG5	Single nucleotide variant (synonymous variant +1 more)	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 2919657	NM_022436.3(ABCG5):c.1325-4C>G	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia +1 more	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 2915822	NM_022436.3(ABCG5):c.1118+20G>A	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
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	ABCG5, DYNC2LI1	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 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	DYNC2LI1, ABCG5	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 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	DYNC2LI1, ABCG5	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2812590	NM_022436.3(ABCG5):c.918A>C (p.Ser306=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia	GLikely benign
Select item 2804670	NM_022437.3(ABCG8):c.60C>T (p.Thr20=)	ABCG5, ABCG8	Single nucleotide variant (synonymous variant)	not provided	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 2796039	NM_016008.4(DYNC2LI1):c.994-17A>G	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	not provided	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 2793903	NM_016008.4(DYNC2LI1):c.994-15A>G	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2756446	NM_022436.3(ABCG5):c.537T>A (p.His179Gln)	ABCG5, DYNC2LI1 (H179Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia	GUncertain significance
Select item 2750328	NM_022436.3(ABCG5):c.1119-11T>C	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2742142	NM_022437.3(ABCG8):c.7G>A (p.Gly3Arg)	ABCG5, ABCG8 (G3R)	Single nucleotide variant (missense variant)	not provided	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 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 +1 more	GLikely benign
Select item 2691434	NM_022436.3(ABCG5):c.1452T>C (p.Ser484=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2690818	NM_022436.3(ABCG5):c.438G>C (p.Glu146Asp)	ABCG5 (E146D)	Single nucleotide variant (missense variant)	Sitosterolemia 2	GUncertain significance
Select item 2690817	NM_022436.3(ABCG5):c.1637_1642dup (p.Gly547_Phe548insSerGly)	ABCG5, DYNC2LI1	Duplication (inframe_insertion +1 more)	Sitosterolemia 2	GUncertain significance
Select item 2690816	NM_022436.3(ABCG5):c.854A>G (p.Asn285Ser)	ABCG5, DYNC2LI1 (N285S)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2	GUncertain significance
Select item 2690815	NM_022436.3(ABCG5):c.1586T>C (p.Ile529Thr)	ABCG5, DYNC2LI1 (I529T)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2	GUncertain significance
Select item 2683638	NM_022436.3(ABCG5):c.634+1G>C	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2625956	NM_022436.3(ABCG5):c.624C>T (p.Leu208=)	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2625955	NM_022436.3(ABCG5):c.1942C>T (p.Leu648Phe)	ABCG5, DYNC2LI1 (L648F)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2625952	NM_022436.3(ABCG5):c.1690T>C (p.Tyr564His)	ABCG5, DYNC2LI1 (Y564H)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2625950	NM_022436.3(ABCG5):c.805G>C (p.Gly269Arg)	ABCG5, DYNC2LI1 (G269R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2624493	NM_022436.3(ABCG5):c.1624G>C (p.Val542Leu)	ABCG5, DYNC2LI1 (V542L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2624492	NM_022436.3(ABCG5):c.1137G>C (p.Leu379Phe)	ABCG5, DYNC2LI1 (L379F)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2616978	NM_022436.3(ABCG5):c.788T>G (p.Ile263Ser)	ABCG5, DYNC2LI1 (I263S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616977	NM_022436.3(ABCG5):c.786A>C (p.Lys262Asn)	DYNC2LI1, ABCG5 (K262N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616976	NM_022436.3(ABCG5):c.776T>A (p.Leu259His)	ABCG5, DYNC2LI1 (L259H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2584573	NM_022436.3(ABCG5):c.1340C>T (p.Ala447Val)	DYNC2LI1, ABCG5 (A447V)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +1 more	GUncertain significance
Select item 2584572	NM_022436.3(ABCG5):c.576del (p.Ile193fs)	ABCG5, DYNC2LI1 (I193fs)	Deletion (3 prime UTR variant +1 more)	Sitosterolemia 2 +1 more	GLikely pathogenic
Select item 2581611	NM_022436.3(ABCG5):c.1758T>C (p.Thr586=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2581537	NM_022436.3(ABCG5):c.619C>G (p.Leu207Val)	ABCG5, DYNC2LI1 (L207V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2581535	NM_022436.3(ABCG5):c.1356G>C (p.Glu452Asp)	ABCG5, DYNC2LI1 (E452D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2581508	NM_022436.3(ABCG5):c.1670T>C (p.Ile557Thr)	ABCG5, DYNC2LI1 (I557T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2577149	NM_022436.3(ABCG5):c.1910T>C (p.Leu637Pro)	ABCG5, DYNC2LI1 (L637P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2571074	NM_022436.3(ABCG5):c.905-1G>C	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2564013	NM_022436.3(ABCG5):c.1293G>C (p.Pro431=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2564012	NM_022436.3(ABCG5):c.782A>T (p.Asp261Val)	ABCG5, DYNC2LI1 (D261V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2564011	NM_022436.3(ABCG5):c.1620G>T (p.Ala540=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2564010	NM_022436.3(ABCG5):c.1248C>G (p.Ile416Met)	ABCG5, DYNC2LI1 (I416M)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2564009	NM_022436.3(ABCG5):c.970A>G (p.Met324Val)	ABCG5, DYNC2LI1 (M324V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2564008	NM_022436.3(ABCG5):c.1001T>C (p.Ile334Thr)	ABCG5, DYNC2LI1 (I334T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2564006	NM_022436.3(ABCG5):c.621G>A (p.Leu207=)	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2564005	NM_022436.3(ABCG5):c.890C>T (p.Pro297Leu)	ABCG5, DYNC2LI1 (P297L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2564003	NM_022436.3(ABCG5):c.609C>A (p.Ile203=)	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2564002	NM_022436.3(ABCG5):c.1698A>G (p.Thr566=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	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 2546402	NM_022436.3(ABCG5):c.745A>G (p.Ile249Val)	ABCG5, DYNC2LI1 (I249V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537289	NM_022436.3(ABCG5):c.1762+1G>A	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2536270	NM_022436.3(ABCG5):c.1835C>A (p.Thr612Asn)	ABCG5, DYNC2LI1 (T612N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534849	NM_022436.3(ABCG5):c.1945A>C (p.Ile649Leu)	ABCG5, DYNC2LI1 (I649L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528889	NM_016008.4(DYNC2LI1):c.1042G>A (p.Glu348Lys)	ABCG5, DYNC2LI1 (E349K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 +1 more	GUncertain significance
Select item 2502169	NM_022436.3(ABCG5):c.1210G>A (p.Val404Ile)	ABCG5, DYNC2LI1 (V404I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2497234	NM_022436.3(ABCG5):c.1501T>C (p.Tyr501His)	ABCG5, DYNC2LI1 (Y501H)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2487141	NM_022436.3(ABCG5):c.1360C>A (p.Gln454Lys)	ABCG5, DYNC2LI1 (Q454K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485807	NM_022436.3(ABCG5):c.1888T>A (p.Phe630Ile)	ABCG5, DYNC2LI1 (F630I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481949	NM_022436.3(ABCG5):c.905-5T>G	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2461783	NM_022436.3(ABCG5):c.833C>T (p.Ala278Val)	ABCG5, DYNC2LI1 (A278V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2450768	NM_022437.3(ABCG8):c.41G>C (p.Gly14Ala)	ABCG8, ABCG5 (G14A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2449164	NM_022436.3(ABCG5):c.1074C>T (p.Thr358=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2449163	NM_022436.3(ABCG5):c.893T>C (p.Phe298Ser)	ABCG5, DYNC2LI1 (F298S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2449162	NM_022436.3(ABCG5):c.1891A>T (p.Ile631Phe)	ABCG5, DYNC2LI1 (I631F)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2449161	NM_022436.3(ABCG5):c.791C>T (p.Ala264Val)	ABCG5, DYNC2LI1 (A264V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2449160	NM_022436.3(ABCG5):c.1038A>G (p.Lys346=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign

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