ClinVar for MedGen (Select 1684715) - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061912	NM_022436.3(ABCG5):c.351_354dup (p.Ala119fs)	ABCG5 (A119fs)	Duplication (frameshift variant)	Sitosterolemia 2	GLikely pathogenic
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 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 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 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 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 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 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 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 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 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 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 2438774	NM_022436.3(ABCG5):c.1217G>A (p.Arg406Gln)	ABCG5, DYNC2LI1 (R406Q)	Single nucleotide variant (missense variant +1 more)	ABCG5-related condition +1 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 2419973	NM_022436.3(ABCG5):c.680C>G (p.Thr227Ser)	ABCG5, DYNC2LI1 (T227S)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +2 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 2 +1 more	GUncertain significance
Select item 1803916	NM_022436.3(ABCG5):c.529C>G (p.Leu177Val)	ABCG5, DYNC2LI1 (L177V)	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia 2 +1 more	GUncertain significance
Select item 1803865	NM_022436.3(ABCG5):c.1175A>C (p.Gln392Pro)	ABCG5, DYNC2LI1 (Q392P)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2	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 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 1760555	NM_022436.3(ABCG5):c.1250A>G (p.Gln417Arg)	ABCG5, DYNC2LI1 (Q417R)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +1 more	GUncertain significance
Select item 1703837	NM_022436.3(ABCG5):c.728G>T (p.Arg243Leu)	ABCG5, DYNC2LI1 (R243L)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2	GUncertain significance
Select item 1699077	NM_022436.3(ABCG5):c.1649+2dup	ABCG5, DYNC2LI1	Duplication (intron variant +1 more)	Sitosterolemia 2	GUncertain significance
Select item 1693810	NM_022436.3(ABCG5):c.1183A>G (p.Ile395Val)	ABCG5, DYNC2LI1 (I395V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1684589	NM_022436.3(ABCG5):c.296T>G (p.Met99Arg)	ABCG5 (M99R)	Single nucleotide variant (missense variant)	Sitosterolemia 2	GUncertain significance
Select item 1684420	NM_022436.3(ABCG5):c.1890del (p.Phe630fs)	ABCG5, DYNC2LI1 (F630fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1492861	NM_022436.3(ABCG5):c.1228A>G (p.Asn410Asp)	ABCG5, DYNC2LI1 (N410D)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +2 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)	Cardiovascular phenotype +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 1321322	NM_022436.3(ABCG5):c.-76C>T	ABCG5	Single nucleotide variant (5 prime UTR variant)	Sitosterolemia 2 +1 more	GConflicting classifications of pathogenicity
Select item 1308191	NM_022436.3(ABCG5):c.403-5T>A	ABCG5	Single nucleotide variant (intron variant)	Sitosterolemia 2 +1 more	GUncertain significance
Select item 1120119	NM_022436.3(ABCG5):c.751C>T (p.Gln251Ter)	ABCG5, DYNC2LI1 (Q251*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 1046346	NM_022436.3(ABCG5):c.914C>G (p.Thr305Arg)	ABCG5, DYNC2LI1 (T305R)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +1 more	GPathogenic/Likely pathogenic
Select item 1043557	NM_022436.3(ABCG5):c.1348G>C (p.Asp450His)	ABCG5, DYNC2LI1 (D450H)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +2 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 898038	NM_022436.3(ABCG5):c.538G>A (p.Val180Met)	ABCG5, DYNC2LI1 (V180M)	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia 1 +1 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 895029	NM_022436.3(ABCG5):c.139G>C (p.Val47Leu)	ABCG5 (V47L)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +2 more	GUncertain significance
Select item 895028	NM_022436.3(ABCG5):c.139G>T (p.Val47Phe)	ABCG5 (V47F)	Single nucleotide variant (missense variant)	ABCG5-related condition +6 more	GConflicting classifications of pathogenicity
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 849750	NM_022436.3(ABCG5):c.1216C>T (p.Arg406Trp)	ABCG5, DYNC2LI1 (R406W)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +1 more	GUncertain significance
Select item 843950	NM_022436.3(ABCG5):c.1337G>A (p.Arg446Gln)	DYNC2LI1, ABCG5 (R446Q)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +1 more	GConflicting classifications of pathogenicity
Select item 808732	NM_022436.3(ABCG5):c.1374C>G (p.Tyr458Ter)	ABCG5, DYNC2LI1 (Y458*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 598521	NM_022436.3(ABCG5):c.235G>A (p.Gly79Arg)	ABCG5 (G79R)	Single nucleotide variant (missense variant)	not provided +4 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 specified +4 more	GUncertain significance
Select item 595518	NM_022436.3(ABCG5):c.139G>A (p.Val47Ile)	ABCG5 (V47I)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 595462	NM_022436.3(ABCG5):c.1528C>A (p.His510Asn)	ABCG5, DYNC2LI1 (H510N)	Single nucleotide variant (missense variant +1 more)	not provided +3 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 594348	NM_022436.3(ABCG5):c.1870T>C (p.Phe624Leu)	ABCG5, DYNC2LI1 (F624L)	Single nucleotide variant (missense variant +1 more)	Thrombocytopenia +4 more	GUncertain significance
Select item 593676	NM_022436.3(ABCG5):c.325T>C (p.Phe109Leu)	ABCG5 (F109L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 501709	NM_022436.3(ABCG5):c.599G>A (p.Arg200Gln)	ABCG5, DYNC2LI1 (R200Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Sitosterolemia 2 +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)	not provided +1 more	GUncertain significance
Select item 336055	NM_022436.3(ABCG5):c.182G>A (p.Arg61Gln)	ABCG5 (R61Q)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +3 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 336042	NM_022436.3(ABCG5):c.1163C>T (p.Thr388Met)	ABCG5, DYNC2LI1 (T388M)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 1 +5 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 290953	NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg)	ABCG5, DYNC2LI1 (G582R)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +4 more	GConflicting classifications of pathogenicity
Select item 286792	NM_022436.3(ABCG5):c.50T>G (p.Val17Gly)	ABCG5 (V17G)	Single nucleotide variant (missense variant)	ABCG5-related condition +3 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)	Sitosterolemia 1 +3 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)	Sitosterolemia 1 +5 more	GConflicting classifications of pathogenicity
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 194262	NM_022436.3(ABCG5):c.1864A>G (p.Met622Val)	DYNC2LI1, ABCG5 (M622V)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +5 more	GBenign/Likely benign
Select item 30485	NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter)	ABCG5, DYNC2LI1 (R446*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
Select item 30484	NM_022436.3(ABCG5):c.46C>T (p.Gln16Ter)	ABCG5 (Q16*)	Single nucleotide variant (nonsense)	Sitosterolemia 2	GPathogenic
Select item 4981	NM_022436.3(ABCG5):c.229G>T (p.Glu77Ter)	ABCG5 (E77*)	Single nucleotide variant (nonsense)	Sitosterolemia 2	GPathogenic
Select item 4980	NM_022436.3(ABCG5):c.1166G>A (p.Arg389His)	ABCG5, DYNC2LI1 (R389H)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +3 more	GPathogenic/Likely pathogenic
Select item 4979	NM_022436.3(ABCG5):c.1256G>C (p.Arg419Pro)	ABCG5, DYNC2LI1 (R419P)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2	GPathogenic
Select item 4978	NM_022436.3(ABCG5):c.1256G>A (p.Arg419His)	ABCG5, DYNC2LI1 (R419H)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2	GPathogenic
Select item 4977	NM_022436.3(ABCG5):c.727C>T (p.Arg243Ter)	ABCG5, DYNC2LI1 (R243*)	Single nucleotide variant (nonsense +1 more)	ABCG5-related condition	GPathogenic
Select item 4976	NM_022436.3(ABCG5):c.1222C>T (p.Arg408Ter)	ABCG5, DYNC2LI1 (R408*)	Single nucleotide variant (nonsense +1 more)	Sitosterolemia 2 +1 more	GPathogenic/Likely pathogenic
Select item 4975	NM_022437.3(ABCG8):c.55G>C (p.Asp19His)	ABCG5, ABCG8 (D19H)	Single nucleotide variant (missense variant)	ABCG8-related condition +6 more	GBenign/Likely benign; association

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Items: 77