ClinVar for MedGen (Select 152875) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068595	NM_000527.5(LDLR):c.971G>T (p.Gly324Val)	LDLR (G156V +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 2775431	NM_000527.5(LDLR):c.1241T>A (p.Leu414Gln)	LDLR (L246Q +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 2692366	NM_000527.5(LDLR):c.1005del (p.Tyr336fs)	LDLR (Y168fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 2689366	NM_000527.5(LDLR):c.*2136A>G	LDLR	Single nucleotide variant (3 prime UTR variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 2672294	NM_000527.5(LDLR):c.535_536delinsAT (p.Glu179Met)	LDLR (E138M +1 more)	Indel (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 2627788	NM_000527.5(LDLR):c.2557del (p.Val853fs)	LDLR (V675fs +4 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 2627410	NM_000527.5(LDLR):c.1351A>G (p.Ile451Val)	LDLR (I283V +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 2582740	NM_000527.5(LDLR):c.353A>C (p.Asp118Ala)	LDLR (D118A +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 2574178	NC_000019.9:g.(?_11240188)_(11240347_?)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 2574177	NC_000019.9:g.(11236353_11238684)_(11240346_11241151)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 2574176	NC_000019.9:g.(11216759_11217241)_(11217363_11217715)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 2574175	NC_000019.10:g.(?_11110652)_(11110771_?)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 2574174	NC_000019.9:g.(11212181_11213340)_(11218190_11219759)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 2502238	NM_000527.5(LDLR):c.817+6C>T	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
Select item 2500336	NM_000527.5(LDLR):c.1464_1465del (p.Tyr489fs)	LDLR (Y321fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 2500308	NM_000527.5(LDLR):c.397G>T (p.Asp133Tyr)	LDLR (D133Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 2441124	NM_000527.5(LDLR):c.117C>A (p.Cys39Ter)	LDLR (C125* +1 more)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 2441111	NM_000527.5(LDLR):c.494G>A (p.Trp165Ter)	LDLR (W124* +1 more)	Single nucleotide variant (nonsense +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 2433423	NM_000527.5(LDLR):c.176C>T (p.Ser59Phe)	LDLR (S145F +1 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 2430372	NM_000527.5(LDLR):c.1794_1795del (p.Leu599fs)	LDLR (L431fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 2413192	NM_000527.5(LDLR):c.1819C>G (p.His607Asp)	LDLR (H439D +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1804138	NC_000019.9:g.(11213519_11215396)_(11244426_11256864)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1758997	NM_000527.5(LDLR):c.1244_1245del (p.Asp415fs)	LDLR (D288fs +3 more)	Deletion (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 1712251	NM_000527.5(LDLR):c.680A>G (p.Asp227Gly)	LDLR (D186G +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1709599	NM_000527.5(LDLR):c.1061-2A>T	LDLR	Single nucleotide variant (splice acceptor variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1703194	NC_000019.9:g.(?_11200038)_(11211022_11213339)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 1703193	NC_000019.9:g.(?_11222190)_(11227674_?)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 1685923	NM_000527.5(LDLR):c.106G>T (p.Asp36Tyr)	LDLR (D36Y)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1676657	NM_000527.5(LDLR):c.1118dup (p.Gly374fs)	LDLR (G206fs +3 more)	Duplication	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1581582	NM_000527.5(LDLR):c.68-18C>G	LDLR	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1509293	NM_000527.5(LDLR):c.2440C>T (p.Arg814Trp)	LDLR (R773W +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +2 more	GUncertain significance
Select item 1466547	NM_000527.5(LDLR):c.845T>C (p.Phe282Ser)	LDLR (F241S +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 1437514	NM_000527.5(LDLR):c.915G>T (p.Trp305Cys)	LDLR (W305C +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 1427764	NM_000163.5(GHR):c.484G>T (p.Val162Phe)	GHR (V140F +2 more)	Single nucleotide variant (missense variant)	Short stature due to partial GHR deficiency +3 more	GConflicting classifications of pathogenicity
Select item 1395739	NM_000527.5(LDLR):c.1003G>T (p.Gly335Cys)	LDLR (G167C +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 1349526	NM_000527.5(LDLR):c.1608G>C (p.Trp536Cys)	LDLR (W368C +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GConflicting classifications of pathogenicity
Select item 1341581	NM_000527.5(LDLR):c.1691A>C (p.Asn564Thr)	LDLR (N396T +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1341570	NM_000527.4:c.(313+1_314-1)_(1186+1_1187-1)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 1341569	NM_000527.5(LDLR):c.1253A>G (p.Glu418Gly)	LDLR (E250G +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 1341568	NM_000527.5(LDLR):c.1214A>T (p.Asn405Ile)	LDLR (N237I +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 1341567	NM_000527.5(LDLR):c.1965_1966delinsG (p.Phe655fs)	LDLR (F487fs +3 more)	Indel (frameshift variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 1341566	NM_000527.5(LDLR):c.1846-11T>A	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 1341565	NM_000527.5(LDLR):c.1706-2A>G	LDLR	Single nucleotide variant (splice acceptor variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 1341564	NM_000527.5(LDLR):c.1586+1G>C	LDLR	Single nucleotide variant (splice donor variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1334400	NM_000527.5(LDLR):c.382T>G (p.Cys128Gly)	LDLR (C128G +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1334399	NM_000527.5(LDLR):c.2022dup (p.Gly675fs)	LDLR (G507fs +2 more)	Duplication (frameshift variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1334396	NM_000527.5(LDLR):c.413C>A (p.Ser138Ter)	LDLR (S138* +1 more)	Single nucleotide variant (nonsense +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1334395	NM_000527.5(LDLR):c.1756T>C (p.Ser586Pro)	LDLR (S418P +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 1334394	NM_000527.5(LDLR):c.-8C>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 1331775	NM_000527.5(LDLR):c.226G>C (p.Gly76Arg)	LDLR (G76R)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 1330203	GRCh37/hg19 19p13.2(chr19:11215846-11222365)x3	LDLR	Copy number gain	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 1325734	NM_000527.5:c.(2311+1_2312-1)_(2389+1_2390-1)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 1321229	NM_000527.5(LDLR):c.1470G>C (p.Trp490Cys)	LDLR (W322C +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 1321228	NM_000527.5(LDLR):c.1178A>C (p.Lys393Thr)	LDLR (K225T +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1321227	NM_000527.5(LDLR):c.764G>T (p.Cys255Phe)	LDLR (C128F +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1321226	NM_000527.5(LDLR):c.727T>A (p.Cys243Ser)	LDLR (C116S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1321225	NM_000527.5(LDLR):c.619G>T (p.Gly207Cys)	LDLR (G166C +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1321224	NM_000527.5(LDLR):c.618T>A (p.Ser206Arg)	LDLR (S165R +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1321223	NM_000527.5(LDLR):c.607del (p.His203fs)	LDLR (H162fs +1 more)	Deletion (frameshift variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1321222	NM_000527.5(LDLR):c.378C>A (p.Phe126Leu)	LDLR (F126L +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1321221	NM_000527.5(LDLR):c.2487G>C (p.Gln829His)	LDLR (Q651H +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1321220	NM_000527.5(LDLR):c.1980G>C (p.Gln660His)	LDLR (Q492H +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1321219	NM_000527.5(LDLR):c.1732G>T (p.Val578Phe)	LDLR (V410F +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 1321218	NM_000527.5(LDLR):c.1550C>T (p.Ser517Phe)	LDLR (S349F +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1321217	NM_000527.5(LDLR):c.103del (p.Gln35fs)	LDLR (Q35fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1300030	NM_000527.5(LDLR):c.373_379del (p.Gln125fs)	LDLR (Q125fs +1 more)	Deletion (frameshift variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 1297043	NM_000527.5(LDLR):c.314-50_1186+50dup	LDLR	Duplication (splice acceptor variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 1220548	NM_000527.5(LDLR):c.181G>T (p.Glu61Ter)	LDLR (E61*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1199380	NM_000527.5(LDLR):c.1043C>T (p.Ala348Val)	LDLR (A180V +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 1180495	NM_000527.5(LDLR):c.482T>A (p.Ile161Asn)	LDLR (I120N +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GConflicting classifications of pathogenicity
Select item 1180494	NM_000527.5(LDLR):c.227_233del (p.Gly76fs)	LDLR (G76fs)	Deletion (frameshift variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic/Likely pathogenic
Select item 1172938	NM_000527.5(LDLR):c.2548-147G>A	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GBenign
Select item 1172937	NM_000527.5(LDLR):c.1705+209C>T	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GBenign
Select item 1172936	NM_000527.5(LDLR):c.1705+182C>T	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GBenign
Select item 1172935	NM_000527.5(LDLR):c.1586+53A>G	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GBenign
Select item 1171903	NM_000527.5(LDLR):c.1579G>A (p.Val527Ile)	LDLR (V359I +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
Select item 1171671	NM_000527.5(LDLR):c.1612A>G (p.Thr538Ala)	LDLR (T370A +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
Select item 1133046	NM_000527.5(LDLR):c.2389+9G>A	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia +1 more	GLikely benign
Select item 1120259	NM_000527.5(LDLR):c.1070_1071dup (p.Cys358fs)	LDLR (C190fs +3 more)	Duplication (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1120258	NM_000527.5(LDLR):c.1061-1G>T	LDLR	Single nucleotide variant (splice acceptor variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1120256	NM_000527.5(LDLR):c.2547+2T>G	LDLR	Single nucleotide variant (splice donor variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1120255	NM_000527.4:c.(1705+1_1706-1)_(1845+1_1846-1)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1120254	NM_000527.4:c.(67+1_68-1)_(1845+1_1846-1)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1120253	NM_000527.4:c.(2140+1_2141-1)_(2389+1_2390-1)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1120252	NM_000527.4:c.(1845+1_1846-1)_(2311+1_2312-1)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1120251	NM_000527.4(LDLR):c.(1586+1_1587-1)_(1845+1_1846-1)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1120250	NM_000527.4(LDLR):c.(1845+1_1846-1)_(2140+1_2141-1)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1120249	NM_000527.5(LDLR):c.1943_1944delinsG (p.Ser648fs)	LDLR (S480fs +3 more)	Indel (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1120248	NM_000527.5(LDLR):c.102C>G (p.Cys34Trp)	LDLR (C34W)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 1120247	NM_000527.5(LDLR):c.1686G>T (p.Trp562Cys)	LDLR (W394C +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 more	GConflicting classifications of pathogenicity
Select item 1120246	NM_000527.5(LDLR):c.1331C>T (p.Ser444Phe)	LDLR (S276F +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GLikely pathogenic
Select item 1120245	NM_000527.5(LDLR):c.1277T>G (p.Leu426Arg)	LDLR (L258R +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1120150	Single allele	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1120149	Single allele	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1120148	Single allele	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1120147	Single allele	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1120145	Single allele	LDLR	Duplication	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1059537	NM_000527.5(LDLR):c.1724T>C (p.Leu575Pro)	LDLR (L407P +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1030498	NM_001979.6(EPHX2):c.590G>C (p.Gly197Ala)	EPHX2 (G144A +2 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 998055	NM_000527.5(LDLR):c.203G>T (p.Cys68Phe)	LDLR (C68F)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +1 more	GUncertain significance

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