ClinVar for Gene (Select 51626) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380802	NM_022436.3(ABCG5):c.1552C>T (p.Leu518Phe)	ABCG5, DYNC2LI1 (L518F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3380801	NM_022436.3(ABCG5):c.1786A>G (p.Thr596Ala)	ABCG5, DYNC2LI1 (T596A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3380800	NM_022436.3(ABCG5):c.1871T>G (p.Phe624Cys)	ABCG5, DYNC2LI1 (F624C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3380799	NM_022436.3(ABCG5):c.1916T>C (p.Ile639Thr)	ABCG5, DYNC2LI1 (I639T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3357060	NM_022436.3(ABCG5):c.1129A>C (p.Arg377=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	ABCG5-related disorder	GLikely benign
Select item 3353552	NM_022436.3(ABCG5):c.958A>G (p.Lys320Glu)	ABCG5, DYNC2LI1 (K320E)	Single nucleotide variant (missense variant +1 more)	ABCG5-related disorder	GUncertain significance
Select item 3349707	NM_022436.3(ABCG5):c.1434C>T (p.Ala478=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	ABCG5-related disorder	GLikely benign
Select item 3348441	NM_022436.3(ABCG5):c.1701C>A (p.Phe567Leu)	DYNC2LI1, ABCG5 (F567L)	Single nucleotide variant (missense variant +1 more)	ABCG5-related disorder	GUncertain significance
Select item 3346611	NM_022436.3(ABCG5):c.1650-4T>C	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	ABCG5-related disorder	GLikely benign
Select item 3345556	NM_022436.3(ABCG5):c.1118+7G>T	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	ABCG5-related disorder	GLikely benign
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 3339301	NM_022436.3(ABCG5):c.1355A>C (p.Glu452Ala)	ABCG5, DYNC2LI1 (E452A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311883	NM_022436.3(ABCG5):c.1933A>G (p.Arg645Gly)	ABCG5, DYNC2LI1 (R645G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3311782	NM_022436.3(ABCG5):c.1619C>T (p.Ala540Val)	ABCG5, DYNC2LI1 (A540V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3311168	NM_022436.3(ABCG5):c.734T>G (p.Val245Gly)	ABCG5, DYNC2LI1 (V245G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3311118	NM_022436.3(ABCG5):c.1461C>T (p.Tyr487=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3311104	NM_022436.3(ABCG5):c.1317G>C (p.Val439=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3311017	NM_022436.3(ABCG5):c.1853C>T (p.Ser618Phe)	ABCG5, DYNC2LI1 (S618F)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3310915	NM_022436.3(ABCG5):c.1117A>T (p.Arg373Trp)	ABCG5, DYNC2LI1 (R373W)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3310807	NM_022436.3(ABCG5):c.1079A>G (p.Asp360Gly)	ABCG5, DYNC2LI1 (D360G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3310714	NM_022436.3(ABCG5):c.598C>A (p.Arg200=)	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3310628	NM_022436.3(ABCG5):c.1840C>A (p.Pro614Thr)	ABCG5, DYNC2LI1 (P614T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3310530	NM_022436.3(ABCG5):c.1426G>A (p.Val476Ile)	ABCG5, DYNC2LI1 (V476I)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3310431	NM_022436.3(ABCG5):c.636G>C (p.Lys212Asn)	ABCG5, DYNC2LI1 (K212N)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3310334	NM_022436.3(ABCG5):c.1195T>C (p.Phe399Leu)	ABCG5, DYNC2LI1 (F399L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3310234	NM_022436.3(ABCG5):c.881A>G (p.His294Arg)	ABCG5, DYNC2LI1 (H294R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3310144	NM_022436.3(ABCG5):c.1007A>G (p.His336Arg)	ABCG5, DYNC2LI1 (H336R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3309955	NM_022436.3(ABCG5):c.1019A>G (p.Lys340Arg)	ABCG5, DYNC2LI1 (K340R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3309885	NM_022436.3(ABCG5):c.1254C>T (p.Asp418=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3309794	NM_022436.3(ABCG5):c.1801G>A (p.Ala601Thr)	ABCG5, DYNC2LI1 (A601T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3309711	NM_022436.3(ABCG5):c.1798T>G (p.Cys600Gly)	ABCG5, DYNC2LI1 (C600G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3309606	NM_022436.3(ABCG5):c.1875G>C (p.Leu625=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3309505	NM_022436.3(ABCG5):c.557G>A (p.Gly186Asp)	ABCG5, DYNC2LI1 (G186D)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3309405	NM_022436.3(ABCG5):c.1451G>C (p.Ser484Thr)	ABCG5, DYNC2LI1 (S484T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3309297	NM_022436.3(ABCG5):c.1039C>T (p.His347Tyr)	ABCG5, DYNC2LI1 (H347Y)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3308939	NM_022436.3(ABCG5):c.523C>A (p.Leu175Met)	ABCG5, DYNC2LI1 (L175M)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3274205	NM_016008.4(DYNC2LI1):c.760C>T (p.Pro254Ser)	DYNC2LI1 (P255S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247567	NC_000002.11:g.(?_44014300)_(44031898_?)del	DYNC2LI1	Deletion	not provided	GPathogenic
Select item 3247230	NC_000002.11:g.(?_44001278)_(45236249_?)del	ABCG5, ABCG8 +8 more	Deletion	Holoprosencephaly 2	GPathogenic
Select item 3233497	NM_022436.3(ABCG5):c.502-7C>G	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3227765	NM_022436.3(ABCG5):c.902A>G (p.Tyr301Cys)	ABCG5, DYNC2LI1 (Y301C)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3227764	NM_022436.3(ABCG5):c.786A>G (p.Lys262=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3227763	NM_022436.3(ABCG5):c.783C>T (p.Asp261=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3227760	NM_022436.3(ABCG5):c.1771A>G (p.Asn591Asp)	ABCG5, DYNC2LI1 (N591D)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3227759	NM_022436.3(ABCG5):c.1523C>T (p.Ala508Val)	ABCG5, DYNC2LI1 (A508V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3227757	NM_022436.3(ABCG5):c.1413C>A (p.Val471=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3227756	NM_022436.3(ABCG5):c.1327C>T (p.Pro443Ser)	ABCG5, DYNC2LI1 (P443S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3227755	NM_022436.3(ABCG5):c.1326T>C (p.Phe442=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3227754	NM_022436.3(ABCG5):c.1304T>C (p.Met435Thr)	ABCG5, DYNC2LI1 (M435T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3227753	NM_022436.3(ABCG5):c.1234C>G (p.Leu412Val)	ABCG5, DYNC2LI1 (L412V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3227751	NM_022436.3(ABCG5):c.1179T>C (p.Asn393=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3227750	NM_022436.3(ABCG5):c.1049C>A (p.Thr350Lys)	ABCG5, DYNC2LI1 (T350K)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3129878	NM_022436.3(ABCG5):c.932G>C (p.Ser311Thr)	ABCG5, DYNC2LI1 (S311T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3129828	NM_022436.3(ABCG5):c.1904T>G (p.Val635Gly)	ABCG5, DYNC2LI1 (V635G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3129824	NM_022436.3(ABCG5):c.1874T>C (p.Leu625Pro)	ABCG5, DYNC2LI1 (L625P)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3129818	NM_022436.3(ABCG5):c.1843G>T (p.Gly615Cys)	ABCG5, DYNC2LI1 (G615C)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3129781	NM_022436.3(ABCG5):c.1655T>C (p.Ile552Thr)	ABCG5, DYNC2LI1 (I552T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3129747	NM_022436.3(ABCG5):c.1492C>G (p.Arg498Gly)	ABCG5, DYNC2LI1 (R498G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3129727	NM_022436.3(ABCG5):c.1153G>A (p.Ala385Thr)	ABCG5, DYNC2LI1 (A385T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3129710	NM_022436.3(ABCG5):c.1049C>G (p.Thr350Arg)	ABCG5, DYNC2LI1 (T350R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3086551	NM_016008.4(DYNC2LI1):c.37G>C (p.Glu13Gln)	DYNC2LI1 (E13Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086550	NM_016008.4(DYNC2LI1):c.334G>C (p.Val112Leu)	DYNC2LI1 (V112L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086549	NM_016008.4(DYNC2LI1):c.323C>T (p.Thr108Met)	DYNC2LI1 (T108M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3061652	NM_022436.3(ABCG5):c.888C>T (p.Asn296=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	ABCG5-related disorder	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 disorder	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 disorder	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 disorder	GLikely benign
Select item 3035780	NM_001348913.2(DYNC2LI1):c.997G>C (p.Ala333Pro)	ABCG5, DYNC2LI1 (A332P +1 more)	Single nucleotide variant (missense variant)	DYNC2LI1-related disorder	GBenign
Select item 3007769	NM_016008.4(DYNC2LI1):c.654+9A>G	DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004349	NM_016008.4(DYNC2LI1):c.234A>T (p.Pro78=)	DYNC2LI1	Single nucleotide variant (synonymous variant)	not provided	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 2997112	NM_016008.4(DYNC2LI1):c.876G>T (p.Val292=)	DYNC2LI1	Single nucleotide variant (synonymous variant)	not provided	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 2982763	NM_016008.4(DYNC2LI1):c.240T>C (p.Asp80=)	DYNC2LI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974542	NM_016008.4(DYNC2LI1):c.657T>C (p.Phe219=)	DYNC2LI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970016	NM_016008.4(DYNC2LI1):c.126+18dup	DYNC2LI1	Duplication (intron variant)	not provided	GBenign
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 2961218	NM_016008.4(DYNC2LI1):c.320+12A>G	DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960358	NM_016008.4(DYNC2LI1):c.320+20G>A	DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2958399	NM_016008.4(DYNC2LI1):c.576+12C>T	DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955885	NM_016008.4(DYNC2LI1):c.709T>C (p.Leu237=)	DYNC2LI1	Single nucleotide variant (synonymous variant)	not provided	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 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	DYNC2LI1, ABCG5	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2904085	NM_016008.4(DYNC2LI1):c.243C>T (p.Ile81=)	DYNC2LI1	Single nucleotide variant (synonymous variant)	not provided	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 2889499	NM_016008.4(DYNC2LI1):c.669A>G (p.Ser223=)	DYNC2LI1	Single nucleotide variant (synonymous variant)	not provided	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 2876895	NM_016008.4(DYNC2LI1):c.576+12del	DYNC2LI1	Deletion (intron variant)	not provided	GLikely benign

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