13887[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 810

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 147991	GRCh38/hg38 2p21(chr2:43676810-45016061)x3	ABCG5, ABCG8 +34 more	Copy number gain	See cases	GUncertain significance
Select item 146326	GRCh38/hg38 2p21(chr2:43762375-44960289)x3	ABCG5, ABCG8 +32 more	Copy number gain	See cases	GUncertain significance
Select item 286793	NM_022436.3(ABCG5):c.148C>T (p.Arg50Cys)	ABCG5, ABCG8 (R50C)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 336059	NM_022437.3(ABCG8):c.-53C>G	ABCG5, ABCG8	Single nucleotide variant (5 prime UTR variant)	Sitosterolemia 1	GUncertain significance
Select item 898096	NM_022437.3(ABCG8):c.-48G>T	ABCG5, ABCG8	Single nucleotide variant (5 prime UTR variant)	Sitosterolemia 1	GUncertain significance
Select item 3036981	NM_022437.3(ABCG8):c.-33G>A	ABCG5, ABCG8	Single nucleotide variant (5 prime UTR variant)	ABCG8-related disorder	GLikely benign
Select item 898097	NM_022437.3(ABCG8):c.-31T>C	ABCG5, ABCG8	Single nucleotide variant (5 prime UTR variant)	Sitosterolemia 1	GUncertain significance
Select item 544827	NM_022437.3(ABCG8):c.-27G>A	ABCG8, ABCG5	Single nucleotide variant (5 prime UTR variant)	Familial hemolytic anemia	GUncertain significance
Select item 3357746	NM_022437.3(ABCG8):c.-25C>G	ABCG5, ABCG8	Single nucleotide variant (5 prime UTR variant)	ABCG8-related disorder	GLikely benign
Select item 2438785	NM_022437.3(ABCG8):c.-21G>A	ABCG5, ABCG8	Single nucleotide variant (5 prime UTR variant)	Sitosterolemia 1	GUncertain significance
Select item 193450	NM_022437.3(ABCG8):c.-19T>G	ABCG5, ABCG8	Single nucleotide variant (5 prime UTR variant)	Sitosterolemia +3 more	GBenign
Select item 336060	NM_022437.3(ABCG8):c.-15A>C	ABCG5, ABCG8	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 501368	NM_022437.3(ABCG8):c.-10T>C	ABCG5, ABCG8	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3047747	NM_022437.3(ABCG8):c.-5G>A	ABCG5, ABCG8	Single nucleotide variant (5 prime UTR variant)	ABCG8-related disorder	GLikely benign
Select item 1677567	NM_022437.3(ABCG8):c.2T>C (p.Met1Thr)	ABCG5, ABCG8 (M1T)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 1 +1 more	GLikely pathogenic
Select item 2445897	NM_022437.3(ABCG8):c.3G>T (p.Met1Ile)	ABCG5, ABCG8 (M1I)	Single nucleotide variant (missense variant +1 more)	Early-onset coronary artery disease	GLikely pathogenic
Select item 1756601	NM_022437.3(ABCG8):c.6C>T (p.Ala2=)	ABCG5, ABCG8	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1586126	NM_022437.3(ABCG8):c.6C>G (p.Ala2=)	ABCG5, ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2742142	NM_022437.3(ABCG8):c.7G>A (p.Gly3Arg)	ABCG5, ABCG8 (G3R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1149610	NM_022437.3(ABCG8):c.12G>A (p.Lys4=)	ABCG5, ABCG8	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1096144	NM_022437.3(ABCG8):c.15G>C (p.Ala5=)	ABCG5, ABCG8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 501702	NM_022437.3(ABCG8):c.15G>A (p.Ala5=)	ABCG5, ABCG8	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 594314	NM_022437.3(ABCG8):c.21G>C (p.Glu7Asp)	ABCG5, ABCG8 (E7D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1789263	NM_022437.3(ABCG8):c.22G>A (p.Glu8Lys)	ABCG5, ABCG8 (E8K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1797428	NM_022437.3(ABCG8):c.28G>A (p.Gly10Arg)	ABCG5, ABCG8 (G10R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1299903	NM_022437.3(ABCG8):c.29G>C (p.Gly10Ala)	ABCG5, ABCG8 (G10A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1727625	NM_022437.3(ABCG8):c.30G>C (p.Gly10=)	ABCG8, ABCG5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1728781	NM_022437.3(ABCG8):c.31C>G (p.Leu11Val)	ABCG5, ABCG8 (L11V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 595268	NM_022437.3(ABCG8):c.35C>T (p.Pro12Leu)	ABCG5, ABCG8 (P12L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 336061	NM_022437.3(ABCG8):c.36G>A (p.Pro12=)	ABCG5, ABCG8	Single nucleotide variant (synonymous variant)	Sitosterolemia 1 +1 more	GConflicting classifications of pathogenicity
Select item 2450768	NM_022437.3(ABCG8):c.41G>C (p.Gly14Ala)	ABCG5, ABCG8 (G14A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1739544	NM_022437.3(ABCG8):c.42G>C (p.Gly14=)	ABCG5, ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1740317	NM_022437.3(ABCG8):c.43G>A (p.Ala15Thr)	ABCG5, ABCG8 (A15T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 193451	NM_022437.3(ABCG8):c.51C>A (p.Pro17=)	ABCG5, ABCG8	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2989355	NM_022437.3(ABCG8):c.52C>T (p.Gln18Ter)	ABCG5, ABCG8 (Q18*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 4975	NM_022437.3(ABCG8):c.55G>C (p.Asp19His)	ABCG5, ABCG8 (D19H)	Single nucleotide variant (genic upstream transcript variant +1 more)	Sitosterolemia 1 +5 more	GBenign/Likely benign; association
Select item 2804670	NM_022437.3(ABCG8):c.60C>T (p.Thr20=)	ABCG5, ABCG8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 499853	NM_022437.3(ABCG8):c.63_63+53del	ABCG5, ABCG8	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 594343	NM_022437.3(ABCG8):c.62C>T (p.Ser21Leu)	ABCG5, ABCG8 (S21L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1753317	NM_022437.3(ABCG8):c.63G>A (p.Ser21=)	ABCG5, ABCG8	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 2165027	NM_022437.3(ABCG8):c.63+5G>A	ABCG5, ABCG8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2187070	NM_022437.3(ABCG8):c.63+15_63+16del	ABCG5, ABCG8	Deletion (intron variant)	not provided	GLikely benign
Select item 1223571	NM_022437.3(ABCG8):c.63+40G>A	ABCG5, ABCG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229333	NM_022437.3(ABCG8):c.64-294T>A	ABCG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190444	NM_022437.3(ABCG8):c.64-113A>G	ABCG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188926	NM_022437.3(ABCG8):c.64-21C>A	ABCG8	Single nucleotide variant (intron variant)	Sitosterolemia 1 +1 more	GBenign
Select item 1611387	NM_022437.3(ABCG8):c.64-14C>T	ABCG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 336062	NM_022437.3(ABCG8):c.64-7C>T	ABCG8	Single nucleotide variant (intron variant)	Sitosterolemia 1 +2 more	GBenign
Select item 499942	NM_022437.3(ABCG8):c.64-2A>G	ABCG8	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1510425	NM_022437.3(ABCG8):c.64G>A (p.Gly22Ser)	ABCG8 (G22S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 598444	NM_022437.3(ABCG8):c.72_73delinsC (p.Gln24fs)	ABCG8 (Q24fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 498839	NM_022437.3(ABCG8):c.76A>G (p.Arg26Gly)	ABCG8 (R26G)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +1 more	GUncertain significance
Select item 3227792	NM_022437.3(ABCG8):c.79T>C (p.Leu27=)	ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1766468	NM_022437.3(ABCG8):c.92A>C (p.Glu31Ala)	ABCG8 (E31A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 336063	NM_022437.3(ABCG8):c.94A>G (p.Ser32Gly)	ABCG8 (S32G)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 500866	NM_022437.3(ABCG8):c.97G>A (p.Asp33Asn)	ABCG8 (D33N)	Single nucleotide variant (missense variant)	Sitosterolemia 1 +4 more	GUncertain significance
Select item 3061603	NM_022437.3(ABCG8):c.99C>T (p.Asp33=)	ABCG8	Single nucleotide variant (synonymous variant)	ABCG8-related disorder	GLikely benign
Select item 2565404	NM_022437.3(ABCG8):c.99C>A (p.Asp33Glu)	ABCG8 (D33E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2152520	NM_022437.3(ABCG8):c.100A>G (p.Asn34Asp)	ABCG8 (N34D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 500779	NM_022437.3(ABCG8):c.120C>A (p.Tyr40Ter)	ABCG8 (Y40*)	Single nucleotide variant (nonsense)	Sitosterolemia 1 +1 more	GPathogenic
Select item 1382660	NM_022437.3(ABCG8):c.122G>A (p.Ser41Asn)	ABCG8 (S41N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 596053	NM_022437.3(ABCG8):c.130C>A (p.Pro44Thr)	ABCG8 (P44T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3227770	NM_022437.3(ABCG8):c.135C>T (p.Asn45=)	ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2810817	NM_022437.3(ABCG8):c.144G>A (p.Glu48=)	ABCG8	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 767793	NM_022437.3(ABCG8):c.154C>G (p.Leu52Val)	ABCG8 (L52V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 2450765	NM_022437.3(ABCG8):c.157A>G (p.Asn53Asp)	ABCG8 (N53D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 288558	NM_022437.3(ABCG8):c.161A>G (p.Tyr54Cys)	ABCG8 (Y54C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 3227775	NM_022437.3(ABCG8):c.165+3A>G	ABCG8	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 2803578	NM_022437.3(ABCG8):c.165+9A>G	ABCG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 594540	NM_022437.3(ABCG8):c.165+10C>T	ABCG8	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 336064	NM_022437.3(ABCG8):c.165+13C>T	ABCG8	Single nucleotide variant (intron variant)	Sitosterolemia 1 +2 more	GBenign
Select item 2581542	NM_022437.3(ABCG8):c.165+16G>T	ABCG8	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1194651	NM_022437.3(ABCG8):c.165+41G>A	ABCG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254265	NM_022437.3(ABCG8):c.165+72A>T	ABCG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267930	NM_022437.3(ABCG8):c.165+86A>C	ABCG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241096	NM_022437.3(ABCG8):c.165+105G>C	ABCG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265661	NM_022437.3(ABCG8):c.166-209T>C	ABCG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258436	NM_022437.3(ABCG8):c.166-141G>A	ABCG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1572787	NM_022437.3(ABCG8):c.166-17C>A	ABCG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 899217	NM_022437.3(ABCG8):c.168G>A (p.Val56=)	ABCG8	Single nucleotide variant (synonymous variant)	Sitosterolemia 1 +1 more	GConflicting classifications of pathogenicity
Select item 2585887	NM_022437.3(ABCG8):c.170A>C (p.Asp57Ala)	ABCG8 (D57A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 281490	NM_022437.3(ABCG8):c.172C>G (p.Leu58Val)	ABCG8 (L58V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 895098	NM_022437.3(ABCG8):c.175G>T (p.Ala59Ser)	ABCG8 (A59S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1376718	NM_022437.3(ABCG8):c.176C>A (p.Ala59Asp)	ABCG8 (A59D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3227780	NM_022437.3(ABCG8):c.177C>A (p.Ala59=)	ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1779940	NM_022437.3(ABCG8):c.177C>G (p.Ala59=)	ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3227782	NM_022437.3(ABCG8):c.184G>A (p.Val62Ile)	ABCG8 (V62I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2810730	NM_022437.3(ABCG8):c.196G>T (p.Glu66Ter)	ABCG8 (E66*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2610456	NM_022437.3(ABCG8):c.198G>T (p.Glu66Asp)	ABCG8 (E66D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2450770	NM_022437.3(ABCG8):c.201G>A (p.Gln67=)	ABCG8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 595965	NM_022437.3(ABCG8):c.215A>T (p.Lys72Met)	ABCG8 (K72M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 336065	NM_022437.3(ABCG8):c.220C>G (p.Pro74Ala)	ABCG8 (P74A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1469715	NM_022437.3(ABCG8):c.223T>G (p.Trp75Gly)	ABCG8 (W75G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 336066	NM_022437.3(ABCG8):c.239G>A (p.Cys80Tyr)	ABCG8 (C80Y)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1793094	NM_022437.3(ABCG8):c.255G>T (p.Glu85Asp)	ABCG8 (E85D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 3227784	NM_022437.3(ABCG8):c.263T>C (p.Ile88Thr)	ABCG8 (I88T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance

<< First< Prev

Page of 9