C5231453[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 594348	NM_022436.3(ABCG5):c.1870T>C (p.Phe624Leu)	DYNC2LI1, ABCG5 (F624L)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 854673	NM_022436.3(ABCG5):c.1856G>C (p.Arg619Thr)	ABCG5, DYNC2LI1 (R619T)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +2 more	GUncertain significance
Select item 1780856	NM_022436.3(ABCG5):c.1826T>C (p.Ile609Thr)	ABCG5, DYNC2LI1 (I609T)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +1 more	GUncertain significance
Select item 1778887	NM_022436.3(ABCG5):c.1727T>C (p.Val576Ala)	ABCG5, DYNC2LI1 (V576A)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +1 more	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 2690815	NM_022436.3(ABCG5):c.1586T>C (p.Ile529Thr)	ABCG5, DYNC2LI1 (I529T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 284757	NM_022436.3(ABCG5):c.1570G>A (p.Val524Ile)	ABCG5, DYNC2LI1 (V524I)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 1 +3 more	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 30485	NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter)	ABCG5, DYNC2LI1 (R446*)	Single nucleotide variant (nonsense +1 more)	Short-rib thoracic dysplasia 15 with polydactyly +5 more	GPathogenic/Likely pathogenic
Select item 1492861	NM_022436.3(ABCG5):c.1228A>G (p.Asn410Asp)	ABCG5, DYNC2LI1 (N410D)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 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)	Sitosterolemia 2 +1 more	GUncertain significance
Select item 849750	NM_022436.3(ABCG5):c.1216C>T (p.Arg406Trp)	ABCG5, DYNC2LI1 (R406W)	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)	Cardiovascular phenotype +1 more	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 +1 more	GUncertain significance
Select item 1693810	NM_022436.3(ABCG5):c.1183A>G (p.Ile395Val)	DYNC2LI1, ABCG5 (I395V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 597032	NM_022436.3(ABCG5):c.1171C>T (p.Leu391Phe)	ABCG5, DYNC2LI1 (L391F)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 4980	NM_022436.3(ABCG5):c.1166G>A (p.Arg389His)	ABCG5, DYNC2LI1 (R389H)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 336042	NM_022436.3(ABCG5):c.1163C>T (p.Thr388Met)	ABCG5, DYNC2LI1 (T388M)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +5 more	GConflicting classifications of pathogenicity
Select item 1355767	NM_022436.3(ABCG5):c.1049C>T (p.Thr350Met)	ABCG5, DYNC2LI1 (T350M)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +2 more	GUncertain significance
Select item 1774823	NM_022436.3(ABCG5):c.1043T>G (p.Leu348Arg)	ABCG5, DYNC2LI1 (L348R)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +1 more	GUncertain significance
Select item 336046	NM_022436.3(ABCG5):c.900C>G (p.Phe300Leu)	ABCG5, DYNC2LI1 (F300L)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +3 more	GUncertain significance
Select item 2438777	NM_022436.3(ABCG5):c.862G>A (p.Gly288Ser)	ABCG5, DYNC2LI1 (G288S)	Single nucleotide variant (missense variant +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 2461783	NM_022436.3(ABCG5):c.833C>T (p.Ala278Val)	ABCG5, DYNC2LI1 (A278V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 2438776	NM_022436.3(ABCG5):c.833C>A (p.Ala278Glu)	ABCG5, DYNC2LI1 (A278E)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	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 2438778	NM_022436.3(ABCG5):c.775C>T (p.Leu259Phe)	ABCG5, DYNC2LI1 (L259F)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2	GUncertain significance
Select item 2419973	NM_022436.3(ABCG5):c.680C>G (p.Thr227Ser)	ABCG5, DYNC2LI1 (T227S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	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 2438781	NM_022436.3(ABCG5):c.566G>C (p.Ser189Thr)	ABCG5, DYNC2LI1 (S189T)	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia 2	GUncertain significance
Select item 898038	NM_022436.3(ABCG5):c.538G>A (p.Val180Met)	ABCG5, DYNC2LI1 (V180M)	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia 2 +1 more	GUncertain significance
Select item 2438775	NM_022436.3(ABCG5):c.509C>A (p.Ala170Asp)	ABCG5, DYNC2LI1 (A170D)	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia 2	GUncertain significance
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 197336	NM_022436.3(ABCG5):c.431T>C (p.Val144Ala)	ABCG5 (V144A)	Single nucleotide variant (missense variant)	Sitosterolemia 2 +4 more	GUncertain significance
Select item 2438773	NM_022436.3(ABCG5):c.425T>A (p.Leu142His)	ABCG5 (L142H)	Single nucleotide variant (missense variant)	Sitosterolemia 2	GUncertain significance
Select item 1308191	NM_022436.3(ABCG5):c.403-5T>A	ABCG5	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 594497	NM_022436.3(ABCG5):c.392A>G (p.Tyr131Cys)	ABCG5 (Y131C)	Single nucleotide variant (missense variant)	Sitosterolemia +2 more	GUncertain significance
Select item 2438780	NM_022436.3(ABCG5):c.391T>C (p.Tyr131His)	ABCG5 (Y131H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028260	NM_022436.3(ABCG5):c.292_293delinsTG (p.Ala98Cys)	ABCG5 (A98C)	Indel (missense variant)	not provided +2 more	GUncertain significance
Select item 1353613	NM_022436.3(ABCG5):c.238C>A (p.Gln80Lys)	ABCG5 (Q80K)	Single nucleotide variant (missense variant)	Sitosterolemia 2 +2 more	GUncertain significance
Select item 598521	NM_022436.3(ABCG5):c.235G>A (p.Gly79Arg)	ABCG5 (G79R)	Single nucleotide variant (missense variant)	Sitosterolemia +4 more	GUncertain significance
Select item 336055	NM_022436.3(ABCG5):c.182G>A (p.Arg61Gln)	ABCG5 (R61Q)	Single nucleotide variant (missense variant)	Sitosterolemia 2 +4 more	GUncertain significance
Select item 895029	NM_022436.3(ABCG5):c.139G>C (p.Val47Leu)	ABCG5 (V47L)	Single nucleotide variant (missense variant)	Sitosterolemia 2 +2 more	GUncertain significance
Select item 895030	NM_022436.3(ABCG5):c.78G>T (p.Glu26Asp)	ABCG5 (E26D)	Single nucleotide variant (missense variant)	Sitosterolemia +3 more	GUncertain significance
Select item 286792	NM_022436.3(ABCG5):c.50T>G (p.Val17Gly)	ABCG5 (V17G)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 45