C0745103[trait identifier] AND "Color Diagnostics, LLC DBA Color Healt - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 440703	NM_174936.3(PCSK9):c.-861G>A	PCSK9	Single nucleotide variant	Hypercholesterolemia, familial, 1	GBenign
Select item 265915	NM_174936.4(PCSK9):c.-8T>C	PCSK9	Single nucleotide variant (5 prime UTR variant)	Hypercholesterolemia, familial, 1 +2 more	GConflicting classifications of pathogenicity
Select item 492230	NM_174936.4(PCSK9):c.10G>A (p.Val4Ile)	PCSK9 (V4I)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
Select item 265916	NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup)	PCSK9	Microsatellite (inframe_insertion)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 235043	NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup)	PCSK9	Microsatellite (inframe_insertion)	Hypercholesterolemia, familial, 1 +5 more	GBenign/Likely benign
Select item 265917	NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del)	PCSK9 (L23del)	Microsatellite (inframe_deletion)	Hypercholesterolemia, familial, 1 +4 more	GConflicting classifications of pathogenicity
Select item 297692	NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)	PCSK9 (E32K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 2878	NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)	PCSK9 (R46L)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 262902	NM_174936.4(PCSK9):c.141C>T (p.Ser47=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1 +6 more	GConflicting classifications of pathogenicity
Select item 440707	NM_174936.4(PCSK9):c.142G>A (p.Glu48Lys)	PCSK9 (E48K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 440708	NM_174936.4(PCSK9):c.158C>G (p.Ala53Gly)	PCSK9 (A53G)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 36669	NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)	PCSK9 (A53V)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +6 more	GBenign/Likely benign
Select item 548104	NM_174936.4(PCSK9):c.169G>A (p.Glu57Lys)	PCSK9 (E57K)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 262904	NM_174936.4(PCSK9):c.207+15A>G	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1 +5 more	GBenign
Select item 492243	NM_174936.4(PCSK9):c.208-16C>A	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1 +1 more	GLikely benign
Select item 440711	NM_174936.4(PCSK9):c.212C>T (p.Pro71Leu)	PCSK9 (P71L)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +4 more	GConflicting classifications of pathogenicity
Select item 413319	NM_174936.4(PCSK9):c.277C>T (p.Arg93Cys)	PCSK9 (R93C)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
Select item 440714	NM_174936.4(PCSK9):c.286C>T (p.Arg96Cys)	PCSK9 (R96C)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +3 more	GConflicting classifications of pathogenicity
Select item 548107	NM_174936.4(PCSK9):c.314G>A (p.Arg105Gln)	PCSK9 (R105Q)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +4 more	GUncertain significance
Select item 413317	NM_174936.4(PCSK9):c.336G>A (p.Leu112=)	PCSK9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 375844	NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn)	PCSK9 (D129N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +4 more	GConflicting classifications of pathogenicity
Select item 189307	NM_174936.4(PCSK9):c.449_450del (p.Phe150fs)	PCSK9 (F150fs)	Deletion (frameshift variant)	Familial hypercholesterolemia +1 more	GLikely benign
Select item 548110	NM_174936.4(PCSK9):c.493C>T (p.Arg165Trp)	PCSK9 (R165W)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +3 more	GUncertain significance
Select item 548111	NM_174936.4(PCSK9):c.494G>A (p.Arg165Gln)	PCSK9 (R165Q)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +3 more	GUncertain significance
Select item 923946	NM_174936.4(PCSK9):c.523G>A (p.Asp175Asn)	PCSK9 (D175N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +2 more	GConflicting classifications of pathogenicity
Select item 36671	NM_174936.4(PCSK9):c.524-11G>A	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3 +5 more	GBenign
Select item 517066	NM_174936.4(PCSK9):c.609C>T (p.Thr203=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, familial, 1 +5 more	GConflicting classifications of pathogenicity
Select item 189308	NM_174936.4(PCSK9):c.610G>A (p.Asp204Asn)	PCSK9 (D204N +4 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +2 more	GConflicting classifications of pathogenicity
Select item 297695	NM_174936.4(PCSK9):c.627C>T (p.Pro209=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, familial, 1 +5 more	GConflicting classifications of pathogenicity
Select item 201127	NM_174936.4(PCSK9):c.644G>A (p.Arg215His)	PCSK9 (R151H +3 more)	Single nucleotide variant (missense variant)	Homozygous familial hypercholesterolemia +4 more	GConflicting classifications of pathogenicity
Select item 262906	NM_174936.4(PCSK9):c.657+9G>A	PCSK9	Single nucleotide variant (intron variant)	Familial hypercholesterolemia +5 more	GConflicting classifications of pathogenicity
Select item 36672	NM_174936.4(PCSK9):c.658-7C>T	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3 +5 more	GBenign
Select item 440718	NM_174936.4(PCSK9):c.658G>A (p.Ala220Thr)	PCSK9 (A220T +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 265932	NM_174936.4(PCSK9):c.705C>T (p.Ser235=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypobetalipoproteinemia +5 more	GConflicting classifications of pathogenicity
Select item 403289	NM_174936.4(PCSK9):c.706G>A (p.Gly236Ser)	PCSK9 (G236S +5 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +4 more	GUncertain significance
Select item 265933	NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp)	PCSK9 (R237W +5 more)	Single nucleotide variant (missense variant)	Hypobetalipoproteinemia +6 more	GConflicting classifications of pathogenicity
Select item 242028	NM_174936.4(PCSK9):c.720C>T (p.Gly240=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 262907	NM_174936.4(PCSK9):c.753C>T (p.Arg251=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 262908	NM_174936.4(PCSK9):c.799+3A>G	PCSK9	Single nucleotide variant (intron variant)	not specified +6 more	GBenign
Select item 297696	NM_174936.4(PCSK9):c.847C>A (p.Leu283Met)	PCSK9 (L283M +5 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +6 more	GConflicting classifications of pathogenicity
Select item 496568	NM_174936.4(PCSK9):c.993C>T (p.Pro331=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Familial hypercholesterolemia +4 more	GBenign/Likely benign
Select item 297698	NM_174936.4(PCSK9):c.996+8del	PCSK9	Deletion (intron variant)	Hypercholesterolemia, familial, 1 +5 more	GConflicting classifications of pathogenicity
Select item 262899	NM_174936.4(PCSK9):c.1026A>G (p.Gln342=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, familial, 1 +6 more	GConflicting classifications of pathogenicity
Select item 440719	NM_174936.4(PCSK9):c.1119C>T (p.Ser373=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GLikely benign
Select item 242026	NM_174936.4(PCSK9):c.1173C>T (p.His391=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 431556	NM_174936.4(PCSK9):c.1180G>A (p.Gly394Ser)	PCSK9 (G394S +5 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 413314	NM_174936.4(PCSK9):c.1227C>T (p.Ala409=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, familial, 1 +5 more	GConflicting classifications of pathogenicity
Select item 369875	NM_174936.4(PCSK9):c.1251C>A (p.His417Gln)	PCSK9 (H417Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 297699	NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser)	PCSK9 (N425S +5 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 297701	NM_174936.4(PCSK9):c.1326C>T (p.Ala442=)	PCSK9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 262900	NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr)	PCSK9 (A443T)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 201126	NM_174936.4(PCSK9):c.1380A>G (p.Val460=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	not provided +6 more	GBenign
Select item 403292	NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu)	PCSK9 (S465L +6 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +3 more	GConflicting classifications of pathogenicity
Select item 265944	NM_174936.4(PCSK9):c.1399C>G (p.Pro467Ala)	PCSK9 (P467A +6 more)	Single nucleotide variant (missense variant)	Hypobetalipoproteinemia +5 more	GConflicting classifications of pathogenicity
Select item 201128	NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)	PCSK9 (R469W +6 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +6 more	GConflicting classifications of pathogenicity
Select item 201124	NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile)	PCSK9 (V474I +6 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +6 more	GBenign/Likely benign
Select item 440723	NM_174936.4(PCSK9):c.1426C>T (p.Arg476Cys)	PCSK9 (R476C +6 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +2 more	GUncertain significance
Select item 523737	NM_174936.4(PCSK9):c.1432G>A (p.Ala478Thr)	PCSK9 (A478T +6 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +3 more	GConflicting classifications of pathogenicity
Select item 201129	NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp)	PCSK9 (R496W +6 more)	Single nucleotide variant (missense variant)	See cases +7 more	GConflicting classifications of pathogenicity
Select item 438338	NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln)	PCSK9 (R496Q +6 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 440724	NM_174936.4(PCSK9):c.1503G>A (p.Glu501=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3 +2 more	GUncertain significance
Select item 492239	NM_174936.4(PCSK9):c.1503+20GT[24]	PCSK9	Microsatellite (intron variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GBenign/Likely benign
Select item 492238	NM_174936.4(PCSK9):c.1503+20GT[20]	PCSK9	Microsatellite (intron variant)	Hypercholesterolemia, familial, 1 +2 more	GBenign/Likely benign
Select item 492237	NM_174936.4(PCSK9):c.1503+20GT[19]	PCSK9	Microsatellite (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 492236	NM_174936.4(PCSK9):c.1503+20GT[18]	PCSK9	Microsatellite (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 492235	NM_174936.4(PCSK9):c.1503+20GT[17]	PCSK9	Microsatellite (intron variant)	Hypercholesterolemia, familial, 1 +2 more	GBenign/Likely benign
Select item 492234	NM_174936.4(PCSK9):c.1503+20GT[16]	PCSK9	Microsatellite (intron variant)	Hypercholesterolemia, familial, 1 +1 more	GBenign
Select item 492233	NM_174936.4(PCSK9):c.1503+20GT[15]	PCSK9	Microsatellite (intron variant)	Hypercholesterolemia, familial, 1 +1 more	GLikely benign
Select item 492232	NM_174936.4(PCSK9):c.1503+20GT[14]	PCSK9	Microsatellite (intron variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GLikely benign
Select item 36668	NM_174936.4(PCSK9):c.1504-16C>T	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3 +3 more	GBenign
Select item 369876	NM_174936.4(PCSK9):c.1537A>G (p.Asn513Asp)	PCSK9 (N513D +7 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
Select item 492240	NM_174936.4(PCSK9):c.1539C>T (p.Asn513=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 431557	NM_174936.4(PCSK9):c.1547G>T (p.Gly516Val)	PCSK9 (G516V +7 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 242027	NM_174936.4(PCSK9):c.1658A>G (p.His553Arg)	PCSK9 (H553R +7 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 431558	NM_174936.4(PCSK9):c.1660C>G (p.Gln554Glu)	PCSK9 (Q554E +7 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +6 more	GConflicting classifications of pathogenicity
Select item 548103	NM_174936.4(PCSK9):c.1671C>T (p.His557=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3 +3 more	GLikely benign
Select item 548105	NM_174936.4(PCSK9):c.1792G>A (p.Ala598Thr)	PCSK9 (A598T +8 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +4 more	GConflicting classifications of pathogenicity
Select item 523717	NM_174936.4(PCSK9):c.1850C>A (p.Ala617Asp)	PCSK9 (A617D +8 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +3 more	GUncertain significance
Select item 375852	NM_174936.4(PCSK9):c.1856A>C (p.Gln619Pro)	PCSK9 (Q619P +8 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +4 more	GConflicting classifications of pathogenicity
Select item 265949	NM_174936.4(PCSK9):c.1863+6G>A	PCSK9	Single nucleotide variant (intron variant)	Familial hypercholesterolemia +2 more	GConflicting classifications of pathogenicity
Select item 548106	NM_174936.4(PCSK9):c.1864-13C>T	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3 +4 more	GConflicting classifications of pathogenicity
Select item 468295	NM_174936.4(PCSK9):c.1869C>T (p.Thr623=)	PCSK9	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 369877	NM_174936.4(PCSK9):c.1948G>A (p.Val650Ile)	PCSK9 (V650I +8 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 more	GUncertain significance
Select item 431559	NM_174936.4(PCSK9):c.1958C>T (p.Thr653Met)	PCSK9 (T653M +8 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +4 more	GUncertain significance
Select item 297705	NM_174936.4(PCSK9):c.1976G>T (p.Arg659Leu)	PCSK9 (R659L +8 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +5 more	GUncertain significance
Select item 431560	NM_174936.4(PCSK9):c.1979A>C (p.Asp660Ala)	PCSK9 (D660A +8 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +2 more	GUncertain significance
Select item 36670	NM_174936.4(PCSK9):c.2009G>A (p.Gly670Glu)	PCSK9 (G670E +8 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +6 more	GBenign/Likely benign
Select item 492242	NM_174936.4(PCSK9):c.2023G>A (p.Val675Ile)	PCSK9 (V675I +8 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 375843	NM_174936.4(PCSK9):c.2038C>T (p.Arg680Trp)	PCSK9 (R680W +8 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +4 more	GConflicting classifications of pathogenicity
Select item 477801	NM_000384.3(APOB):c.13680T>C (p.Thr4560=)	APOB, APOB3'MAR	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +6 more	GConflicting classifications of pathogenicity
Select item 128419	NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)	APOB (A4481T)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +6 more	GConflicting classifications of pathogenicity
Select item 490385	NM_000384.3(APOB):c.13095C>T (p.Asn4365=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 128418	NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn)	APOB (S4338N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +6 more	GBenign
Select item 237739	NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)	APOB (I4314V)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +6 more	GConflicting classifications of pathogenicity
Select item 255977	NM_000384.3(APOB):c.12809G>C (p.Arg4270Thr)	APOB (R4270T)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +6 more	GBenign
Select item 237738	NM_000384.3(APOB):c.12794T>C (p.Val4265Ala)	APOB (V4265A)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +5 more	GConflicting classifications of pathogenicity
Select item 128417	NM_000384.3(APOB):c.12541G>A (p.Glu4181Lys)	APOB (E4181K)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +6 more	GBenign/Likely benign
Select item 384812	NM_000384.3(APOB):c.12382G>A (p.Val4128Met)	APOB (V4128M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 490382	NM_000384.3(APOB):c.12088-13del	APOB	Deletion (intron variant)	Familial hypobetalipoproteinemia 1 +3 more	GBenign
Select item 237735	NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)	APOB (T3826M)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +5 more	GConflicting classifications of pathogenicity

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