"PreventionGenetics, part of Exact Sciences"[submitter] AND "DYNC2LI1" - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 719316	NM_016008.4(DYNC2LI1):c.16C>T (p.Leu6Phe)	DYNC2LI1 (L6F)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 716068	NM_016008.4(DYNC2LI1):c.284A>C (p.Asp95Ala)	DYNC2LI1 (D95A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 788955	NM_016008.4(DYNC2LI1):c.491T>C (p.Met164Thr)	DYNC2LI1 (M164T)	Single nucleotide variant (missense variant)	DYNC2LI1-related disorder +1 more	GBenign
Select item 1223966	NM_016008.4(DYNC2LI1):c.507+44T>A	DYNC2LI1 (F184Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 771331	NM_016008.4(DYNC2LI1):c.533C>T (p.Pro178Leu)	DYNC2LI1 (P179L +1 more)	Single nucleotide variant (missense variant)	DYNC2LI1-related disorder +1 more	GBenign/Likely benign
Select item 1267824	NM_016008.4(DYNC2LI1):c.732-5C>T	DYNC2LI1	Single nucleotide variant (intron variant)	DYNC2LI1-related disorder +1 more	GBenign
Select item 733983	NM_016008.4(DYNC2LI1):c.876G>A (p.Val292=)	DYNC2LI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1229640	NM_016008.4(DYNC2LI1):c.*7T>C	DYNC2LI1, ABCG5	Single nucleotide variant (3 prime UTR variant +1 more)	DYNC2LI1-related disorder +1 more	GBenign
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 290953	NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg)	ABCG5, DYNC2LI1 (G582R)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
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 502765	NM_022436.3(ABCG5):c.1567A>G (p.Ile523Val)	ABCG5, DYNC2LI1 (I523V)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +5 more	GConflicting classifications of pathogenicity
Select item 598602	NM_022436.3(ABCG5):c.1500A>G (p.Gly500=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1665098	NM_022436.3(ABCG5):c.1467G>A (p.Thr489=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	ABCG5-related disorder +1 more	GLikely benign
Select item 290857	NM_022436.3(ABCG5):c.1446C>T (p.Phe482=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 336038	NM_022436.3(ABCG5):c.1411G>A (p.Val471Ile)	ABCG5, DYNC2LI1 (V471I)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +3 more	GConflicting classifications of pathogenicity
Select item 500862	NM_022436.3(ABCG5):c.1398C>T (p.Ala466=)	DYNC2LI1, ABCG5	Single nucleotide variant (synonymous variant +1 more)	ABCG5-related disorder +3 more	GConflicting classifications of pathogenicity
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 1043557	NM_022436.3(ABCG5):c.1348G>C (p.Asp450His)	ABCG5, DYNC2LI1 (D450H)	Single nucleotide variant (missense variant +1 more)	ABCG5-related disorder +2 more	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 497594	NM_022436.3(ABCG5):c.1251G>A (p.Gln417=)	DYNC2LI1, ABCG5	Single nucleotide variant (synonymous variant +1 more)	ABCG5-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 2438774	NM_022436.3(ABCG5):c.1217G>A (p.Arg406Gln)	ABCG5, DYNC2LI1 (R406Q)	Single nucleotide variant (missense variant +1 more)	ABCG5-related disorder +1 more	GUncertain significance
Select item 336042	NM_022436.3(ABCG5):c.1163C>T (p.Thr388Met)	ABCG5, DYNC2LI1 (T388M)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +5 more	GConflicting classifications of pathogenicity
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 289742	NM_022436.3(ABCG5):c.957C>T (p.Ser319=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
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 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 336045	NM_022436.3(ABCG5):c.905-3dup	ABCG5, DYNC2LI1	Duplication (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 500961	NM_022436.3(ABCG5):c.897C>T (p.Asp299=)	DYNC2LI1, ABCG5	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia +4 more	GBenign/Likely benign
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 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 500978	NM_022436.3(ABCG5):c.758G>A (p.Arg253His)	DYNC2LI1, ABCG5 (R253H)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +3 more	GUncertain significance
Select item 4977	NM_022436.3(ABCG5):c.727C>T (p.Arg243Ter)	ABCG5, DYNC2LI1 (R243*)	Single nucleotide variant (nonsense +1 more)	ABCG5-related disorder	GPathogenic
Select item 596105	NM_022436.3(ABCG5):c.658A>G (p.Thr220Ala)	ABCG5, DYNC2LI1 (T220A)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +4 more	GUncertain significance
Select item 1751559	NM_022436.3(ABCG5):c.609C>T (p.Ile203=)	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia +2 more	GLikely benign
Select item 597458	NM_022436.3(ABCG5):c.550C>T (p.Leu184=)	ABCG5, DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype +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)	Cardiovascular phenotype +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)	Sitosterolemia +3 more	GConflicting classifications of pathogenicity

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Items: 38