"Eurofins Ntd Llc (ga)"[submitter] AND "DYNC2LI1"[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 594405	NM_016008.4(DYNC2LI1):c.508-4G>A	DYNC2LI1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 597409	NM_022436.3(ABCG5):c.1950C>T (p.Ser650=)	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 594348	NM_022436.3(ABCG5):c.1870T>C (p.Phe624Leu)	DYNC2LI1, ABCG5 (F624L)	Single nucleotide variant (missense variant +1 more)	Thrombocytopenia +4 more	GUncertain significance
Select item 194262	NM_022436.3(ABCG5):c.1864A>G (p.Met622Val)	ABCG5, DYNC2LI1 (M622V)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 336036	NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu)	ABCG5, DYNC2LI1 (Q604E)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 593731	NM_022436.3(ABCG5):c.1806C>T (p.Phe602=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia +4 more	GConflicting classifications of pathogenicity
Select item 597982	NM_022436.3(ABCG5):c.1770A>C (p.Ser590=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 194263	NM_022436.3(ABCG5):c.1763-7T>G	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 290953	NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg)	ABCG5, DYNC2LI1 (G582R)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +4 more	GConflicting classifications of pathogenicity
Select item 500473	NM_022436.3(ABCG5):c.1733A>G (p.Asn578Ser)	ABCG5, DYNC2LI1 (N578S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 595767	NM_022436.3(ABCG5):c.1711T>C (p.Cys571Arg)	DYNC2LI1, ABCG5 (C571R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 598390	NM_022436.3(ABCG5):c.1707A>C (p.Lys569Asn)	ABCG5, DYNC2LI1 (K569N)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 598636	NM_022436.3(ABCG5):c.1682TCA[3] (p.Ile562_Ser563insIle)	ABCG5, DYNC2LI1	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 501530	NM_022436.3(ABCG5):c.1621G>T (p.Gly541Trp)	ABCG5, DYNC2LI1 (G541W)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +1 more	GUncertain significance
Select item 497801	NM_022436.3(ABCG5):c.1602G>C (p.Val534=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 284757	NM_022436.3(ABCG5):c.1570G>A (p.Val524Ile)	ABCG5, DYNC2LI1 (V524I)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 502765	NM_022436.3(ABCG5):c.1567A>G (p.Ile523Val)	ABCG5, DYNC2LI1 (I523V)	Single nucleotide variant (missense variant +1 more)	ABCG5-related condition +5 more	GConflicting classifications of pathogenicity
Select item 595462	NM_022436.3(ABCG5):c.1528C>A (p.His510Asn)	DYNC2LI1, ABCG5 (H510N)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 498033	NM_022436.3(ABCG5):c.1528C>G (p.His510Asp)	ABCG5, DYNC2LI1 (H510D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 598602	NM_022436.3(ABCG5):c.1500A>G (p.Gly500=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia +2 more	GConflicting classifications of pathogenicity
Select item 500318	NM_022436.3(ABCG5):c.1492C>T (p.Arg498Ter)	ABCG5, DYNC2LI1 (R498*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 281491	NM_022436.3(ABCG5):c.1458C>T (p.Cys486=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 290857	NM_022436.3(ABCG5):c.1446C>T (p.Phe482=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia +2 more	GConflicting classifications of pathogenicity
Select item 500862	NM_022436.3(ABCG5):c.1398C>T (p.Ala466=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	ABCG5-related condition +3 more	GConflicting classifications of pathogenicity
Select item 336039	NM_022436.3(ABCG5):c.1365C>T (p.Asp455=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia 1 +3 more	GConflicting classifications of pathogenicity
Select item 597928	NM_022436.3(ABCG5):c.1358G>C (p.Ser453Thr)	DYNC2LI1, ABCG5 (S453T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 597367	NM_022436.3(ABCG5):c.1354G>C (p.Glu452Gln)	ABCG5, DYNC2LI1 (E452Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 501086	NM_022436.3(ABCG5):c.1347C>T (p.Ser449=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 289811	NM_022436.3(ABCG5):c.1320T>A (p.Asn440Lys)	ABCG5, DYNC2LI1 (N440K)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +1 more	GUncertain significance
Select item 594228	NM_022436.3(ABCG5):c.1311C>T (p.Asn437=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 199164	NM_022436.3(ABCG5):c.1284C>T (p.Gly428=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 499836	NM_022436.3(ABCG5):c.1255C>T (p.Arg419Cys)	ABCG5, DYNC2LI1 (R419C)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +1 more	GUncertain significance
Select item 497594	NM_022436.3(ABCG5):c.1251G>A (p.Gln417=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 597032	NM_022436.3(ABCG5):c.1171C>T (p.Leu391Phe)	ABCG5, DYNC2LI1 (L391F)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +4 more	GUncertain significance
Select item 498427	NM_022436.3(ABCG5):c.1108G>A (p.Val370Ile)	ABCG5, DYNC2LI1 (V370I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 498148	NM_022436.3(ABCG5):c.1068C>A (p.Phe356Leu)	ABCG5, DYNC2LI1 (F356L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 598720	NM_022436.3(ABCG5):c.1059G>A (p.Met353Ile)	ABCG5, DYNC2LI1 (M353I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 289742	NM_022436.3(ABCG5):c.957C>T (p.Ser319=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia +4 more	GConflicting classifications of pathogenicity
Select item 596766	NM_022436.3(ABCG5):c.915G>A (p.Thr305=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia +3 more	GConflicting classifications of pathogenicity
Select item 500961	NM_022436.3(ABCG5):c.897C>T (p.Asp299=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 593142	NM_022436.3(ABCG5):c.850T>C (p.Phe284Leu)	ABCG5, DYNC2LI1 (F284L)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 286860	NM_022436.3(ABCG5):c.834G>A (p.Ala278=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia +2 more	GConflicting classifications of pathogenicity
Select item 594097	NM_022436.3(ABCG5):c.828G>A (p.Thr276=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 291281	NM_022436.3(ABCG5):c.804C>T (p.Phe268=)	DYNC2LI1, ABCG5	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 499385	NM_022436.3(ABCG5):c.780T>C (p.Phe260=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 500978	NM_022436.3(ABCG5):c.758G>A (p.Arg253His)	ABCG5, DYNC2LI1 (R253H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 594717	NM_022436.3(ABCG5):c.751C>G (p.Gln251Glu)	ABCG5, DYNC2LI1 (Q251E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 283812	NM_022436.3(ABCG5):c.696C>T (p.Val232=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia +4 more	GConflicting classifications of pathogenicity
Select item 596105	NM_022436.3(ABCG5):c.658A>G (p.Thr220Ala)	DYNC2LI1, ABCG5 (T220A)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 598045	NM_022436.3(ABCG5):c.634+3A>G	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia +1 more	GUncertain significance
Select item 501709	NM_022436.3(ABCG5):c.599G>A (p.Arg200Gln)	ABCG5, DYNC2LI1 (R200Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 498674	NM_022436.3(ABCG5):c.598C>G (p.Arg200Gly)	ABCG5, DYNC2LI1 (R200G)	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia 2 +1 more	GUncertain significance
Select item 502169	NM_022436.3(ABCG5):c.595C>T (p.Arg199Cys)	ABCG5, DYNC2LI1 (R199C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 284636	NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln)	ABCG5, DYNC2LI1 (R198Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 597458	NM_022436.3(ABCG5):c.550C>T (p.Leu184=)	DYNC2LI1, ABCG5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 289970	NM_022436.3(ABCG5):c.511G>A (p.Val171Ile)	ABCG5, DYNC2LI1 (V171I)	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia +4 more	GConflicting classifications of pathogenicity
Select item 501163	NM_022436.3(ABCG5):c.510C>T (p.Ala170=)	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	ABCG5-related condition +3 more	GConflicting classifications of pathogenicity
Select item 596181	NM_022436.3(ABCG5):c.502-11_502-10del	ABCG5, DYNC2LI1	Microsatellite (3 prime UTR variant +1 more)	not provided	GUncertain significance

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Items: 58