ClinVar for MedGen (Select 1684828) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2683744	NM_005502.4(ABCA1):c.1857_1858delinsAT (p.Met619_Gln620delinsIleTer)	ABCA1	Indel (nonsense)	Hypoalphalipoproteinemia, primary, 1	GLikely pathogenic
Select item 2665024	NM_005502.4(ABCA1):c.720+3681G>A	ABCA1	Single nucleotide variant (intron variant)	Hypoalphalipoproteinemia, primary, 1	GUncertain significance
Select item 2584631	NM_005502.4(ABCA1):c.3462+510A>G	ABCA1	Single nucleotide variant (intron variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 2584607	NM_005502.4(ABCA1):c.2005G>C (p.Glu669Gln)	ABCA1 (E669Q)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 2582357	NM_005502.4(ABCA1):c.3124T>C (p.Ser1042Pro)	ABCA1 (S1042P)	Single nucleotide variant (missense variant)	Tangier disease +1 more	GUncertain significance
Select item 2582339	NM_005502.4(ABCA1):c.4993A>G (p.Met1665Val)	ABCA1 (M1665V)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 2502192	NM_005502.4(ABCA1):c.5762A>G (p.Tyr1921Cys)	ABCA1 (Y1921C)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 2502190	NM_005502.4(ABCA1):c.6113G>A (p.Gly2038Glu)	ABCA1, NIPSNAP3B (G2038E)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +2 more	GUncertain significance
Select item 2441745	NM_005502.4(ABCA1):c.5785G>T (p.Val1929Phe)	ABCA1 (V1929F)	Single nucleotide variant (missense variant)	Tangier disease +1 more	GUncertain significance
Select item 2077232	NM_005502.4(ABCA1):c.3584G>A (p.Arg1195Gln)	ABCA1 (R1195Q)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +3 more	GConflicting classifications of pathogenicity
Select item 1803885	NM_005502.4(ABCA1):c.4539T>A (p.Tyr1513Ter)	ABCA1 (Y1513*)	Single nucleotide variant (nonsense)	Hypoalphalipoproteinemia, primary, 1	GLikely pathogenic
Select item 1803874	NM_005502.4(ABCA1):c.6057A>C (p.Lys2019Asn)	ABCA1, NIPSNAP3B (K2019N)	Single nucleotide variant (missense variant)	Tangier disease +1 more	GUncertain significance
Select item 1803861	NM_005502.4(ABCA1):c.1227C>G (p.Phe409Leu)	ABCA1 (F409L)	Single nucleotide variant (missense variant)	Tangier disease +1 more	GUncertain significance
Select item 1803860	NM_005502.4(ABCA1):c.4464+398C>T	ABCA1	Single nucleotide variant (intron variant)	Tangier disease +1 more	GUncertain significance
Select item 1803827	NM_005502.4(ABCA1):c.844C>T (p.Arg282Ter)	ABCA1 (R282*)	Single nucleotide variant (nonsense)	Tangier disease +1 more	GLikely pathogenic
Select item 1803816	NM_005502.4(ABCA1):c.2995C>T (p.Arg999Cys)	ABCA1 (R999C)	Single nucleotide variant (missense variant)	Tangier disease +1 more	GUncertain significance
Select item 1657879	NM_005502.4(ABCA1):c.2543-3C>T	ABCA1	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1445865	NM_005502.4(ABCA1):c.1765G>A (p.Val589Ile)	ABCA1 (V589I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1402805	NM_005502.4(ABCA1):c.1390G>A (p.Val464Met)	ABCA1 (V464M)	Single nucleotide variant (missense variant)	Tangier disease +2 more	GConflicting classifications of pathogenicity
Select item 1355168	NM_005502.4(ABCA1):c.6118A>G (p.Lys2040Glu)	ABCA1, NIPSNAP3B (K2040E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1329701	NM_005502.4(ABCA1):c.5492C>T (p.Ala1831Val)	ABCA1 (A1831V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1326278	NM_005502.4(ABCA1):c.6599G>A (p.Arg2200Gln)	ABCA1, NIPSNAP3B (R2200Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1064620	NM_005502.4(ABCA1):c.5237+3A>C	ABCA1	Single nucleotide variant (intron variant)	Hypoalphalipoproteinemia, primary, 1	GLikely pathogenic
Select item 1028891	NM_005502.4(ABCA1):c.1774G>T (p.Gly592Cys)	ABCA1 (G592C)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1	GUncertain significance
Select item 974983	NM_005502.4(ABCA1):c.2338-17T>C	ABCA1	Single nucleotide variant (intron variant)	Tangier disease +3 more	GBenign/Likely benign
Select item 928660	NM_005502.4(ABCA1):c.6730G>A (p.Val2244Ile)	ABCA1, NIPSNAP3B (V2244I)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +2 more	GConflicting classifications of pathogenicity
Select item 915228	NM_005502.4(ABCA1):c.*3187A>G	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +1 more	GUncertain significance
Select item 915227	NM_005502.4(ABCA1):c.*3208T>A	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +1 more	GUncertain significance
Select item 915110	NM_005502.4(ABCA1):c.-194C>T	ABCA1, LOC105376196	Single nucleotide variant (5 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 915109	NM_005502.4(ABCA1):c.-188G>C	ABCA1, LOC105376196	Single nucleotide variant (5 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 915034	NM_005502.4(ABCA1):c.720+12T>C	ABCA1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 914983	NM_005502.4(ABCA1):c.1467C>T (p.Asn489=)	ABCA1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 914982	NM_005502.4(ABCA1):c.1537A>G (p.Ile513Val)	ABCA1 (I513V)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 914934	NM_005502.4(ABCA1):c.2235G>T (p.Leu745=)	ABCA1	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 914884	NM_005502.4(ABCA1):c.3103+3G>A	ABCA1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 914883	NM_005502.4(ABCA1):c.3121C>G (p.Leu1041Val)	ABCA1 (L1041V)	Single nucleotide variant (missense variant)	Tangier disease +1 more	GBenign
Select item 914808	NM_005502.4(ABCA1):c.4357A>G (p.Asn1453Asp)	ABCA1 (N1453D)	Single nucleotide variant (missense variant)	Tangier disease +1 more	GUncertain significance
Select item 914764	NM_005502.4(ABCA1):c.5416G>A (p.Val1806Met)	ABCA1 (V1806M)	Single nucleotide variant (missense variant)	Tangier disease +1 more	GUncertain significance
Select item 914708	NM_005502.4(ABCA1):c.6440G>T (p.Gly2147Val)	NIPSNAP3B, ABCA1 (G2147V)	Single nucleotide variant (missense variant)	Tangier disease +1 more	GUncertain significance
Select item 914674	NM_005502.4(ABCA1):c.*406T>C	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +1 more	GConflicting classifications of pathogenicity
Select item 914629	NM_005502.4(ABCA1):c.*1222C>T	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +1 more	GUncertain significance
Select item 914594	NM_005502.4(ABCA1):c.*1803G>C	NIPSNAP3B, ABCA1	Single nucleotide variant (3 prime UTR variant)	Tangier disease +1 more	GBenign/Likely benign
Select item 914593	NM_005502.4(ABCA1):c.*1876A>G	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +1 more	GUncertain significance
Select item 914551	NM_005502.4(ABCA1):c.*2502T>G	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +1 more	GUncertain significance
Select item 914473	NM_005502.4(ABCA1):c.1636A>G (p.Ile546Val)	ABCA1 (I546V)	Single nucleotide variant (missense variant)	Tangier disease +1 more	GConflicting classifications of pathogenicity
Select item 914472	NM_005502.4(ABCA1):c.1695G>C (p.Arg565Ser)	ABCA1 (R565S)	Single nucleotide variant (missense variant)	Tangier disease +1 more	GConflicting classifications of pathogenicity
Select item 914344	NM_005502.4(ABCA1):c.4084C>T (p.Leu1362Phe)	ABCA1, LOC121331340 (L1362F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 914303	NM_005502.4(ABCA1):c.4698+8A>G	ABCA1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 914302	NM_005502.4(ABCA1):c.4698+14C>G	ABCA1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 914265	NM_005502.4(ABCA1):c.5593C>G (p.Leu1865Val)	ABCA1 (L1865V)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 914264	NM_005502.4(ABCA1):c.5602G>A (p.Val1868Ile)	ABCA1 (V1868I)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 914263	NM_005502.4(ABCA1):c.5649A>G (p.Ala1883=)	ABCA1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 914220	NM_005502.4(ABCA1):c.*285C>T	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +1 more	GUncertain significance
Select item 914169	NM_005502.4(ABCA1):c.*699C>T	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 914127	NM_005502.4(ABCA1):c.*1322C>T	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GBenign/Likely benign
Select item 914040	NM_005502.4(ABCA1):c.*2516T>C	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 914039	NM_005502.4(ABCA1):c.*2537G>A	NIPSNAP3B, ABCA1	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 914038	NM_005502.4(ABCA1):c.*2645G>A	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 913816	NM_005502.4(ABCA1):c.376C>T (p.Arg126Cys)	ABCA1 (R126C)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +2 more	GUncertain significance
Select item 913815	NM_005502.4(ABCA1):c.422-12A>G	ABCA1	Single nucleotide variant (intron variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 913772	NM_005502.4(ABCA1):c.*874G>A	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GConflicting classifications of pathogenicity
Select item 913771	NM_005502.4(ABCA1):c.*898C>G	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 913770	NM_005502.4(ABCA1):c.*983A>T	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 913684	NM_005502.4(ABCA1):c.*1970G>C	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 913683	NM_005502.4(ABCA1):c.*2002A>C	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 913682	NM_005502.4(ABCA1):c.*2129A>T	NIPSNAP3B, ABCA1	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GBenign/Likely benign
Select item 913640	NM_005502.4(ABCA1):c.*2737T>C	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 913489	NM_005502.4(ABCA1):c.-93+13C>G	LOC105376196, LOC130002274 +1 more	Single nucleotide variant (intron variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 913488	NM_005502.4(ABCA1):c.-24G>A	ABCA1	Single nucleotide variant (5 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 913436	NM_005502.4(ABCA1):c.551T>C (p.Leu184Ser)	ABCA1 (L184S)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +2 more	GConflicting classifications of pathogenicity
Select item 913435	NM_005502.4(ABCA1):c.562C>A (p.Gln188Lys)	ABCA1 (Q188K)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 913397	NM_005502.4(ABCA1):c.1091C>G (p.Ser364Cys)	ABCA1 (S364C)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 913396	NM_005502.4(ABCA1):c.1201A>C (p.Lys401Gln)	ABCA1 (K401Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 913347	NM_005502.4(ABCA1):c.1827G>A (p.Thr609=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 913220	NM_005502.4(ABCA1):c.4194C>T (p.Asp1398=)	ABCA1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 913219	NM_005502.4(ABCA1):c.4196C>T (p.Thr1399Met)	ABCA1 (T1399M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 913166	NM_005502.4(ABCA1):c.4764T>C (p.Asn1588=)	ABCA1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 913117	NM_005502.4(ABCA1):c.6083C>T (p.Ala2028Val)	ABCA1, NIPSNAP3B (A2028V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 913070	NM_005502.4(ABCA1):c.*329T>C	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 913031	NM_005502.4(ABCA1):c.1259G>A (p.Ser420Asn)	ABCA1 (S420N)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 913030	NM_005502.4(ABCA1):c.1295A>T (p.Glu432Val)	ABCA1 (E432V)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 913029	NM_005502.4(ABCA1):c.1338C>G (p.Asp446Glu)	ABCA1 (D446E)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 913028	NM_005502.4(ABCA1):c.1377A>C (p.Thr459=)	ABCA1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 912936	NM_005502.4(ABCA1):c.2903T>C (p.Met968Thr)	ABCA1 (M968T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 912891	NM_005502.4(ABCA1):c.3554A>G (p.Asn1185Ser)	ABCA1 (N1185S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 912890	NM_005502.4(ABCA1):c.3715A>G (p.Ile1239Val)	ABCA1 (I1239V)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 912846	NM_005502.4(ABCA1):c.4320A>G (p.Pro1440=)	ABCA1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 912845	NM_005502.4(ABCA1):c.4324C>A (p.Pro1442Thr)	ABCA1 (P1442T)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 912805	NM_005502.4(ABCA1):c.5201A>G (p.Asn1734Ser)	ABCA1 (N1734S)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 912804	NM_005502.4(ABCA1):c.5237+6T>C	ABCA1	Single nucleotide variant (intron variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 912803	NM_005502.4(ABCA1):c.5245A>G (p.Ile1749Val)	ABCA1 (I1749V)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GConflicting classifications of pathogenicity
Select item 912754	NM_005502.4(ABCA1):c.6308+4C>T	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GConflicting classifications of pathogenicity
Select item 912707	NM_005502.4(ABCA1):c.*342G>T	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GBenign
Select item 912706	NM_005502.4(ABCA1):c.*379C>T	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 912705	NM_005502.4(ABCA1):c.*398A>G	NIPSNAP3B, ABCA1	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 912667	NM_005502.4(ABCA1):c.*1031T>C	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 912666	NM_005502.4(ABCA1):c.*1154C>A	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GConflicting classifications of pathogenicity
Select item 912665	NM_005502.4(ABCA1):c.*1173C>T	NIPSNAP3B, ABCA1	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 912628	NM_005502.4(ABCA1):c.*1773A>C	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 912627	NM_005502.4(ABCA1):c.*1790C>T	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GConflicting classifications of pathogenicity

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