949[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	AACS, ABCB9 +330 more	Copy number loss	See cases	GPathogenic
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 1297808	NM_005505.5(SCARB1):c.*94G>A	SCARB1 (G433R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1181016	NM_005505.5(SCARB1):c.*72G>A	SCARB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3045145	NM_005505.5(SCARB1):c.*15C>T	SCARB1	Single nucleotide variant (synonymous variant +2 more)	SCARB1-related disorder	GLikely benign
Select item 1254971	NM_005505.5(SCARB1):c.*1-112C>T	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316819	NM_005505.5(SCARB1):c.*1-143C>T	SCARB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317404	NM_005505.5(SCARB1):c.*1530+78G>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1968028	NM_005505.5(SCARB1):c.1525C>G (p.Leu509Val)	SCARB1 (L481V +5 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2285264	NM_005505.5(SCARB1):c.1504T>C (p.Ser502Pro)	SCARB1 (S494P +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1899761	NM_005505.5(SCARB1):c.1464G>A (p.Gln488=)	SCARB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2600149	NM_005505.5(SCARB1):c.1430G>T (p.Ser477Ile)	SCARB1 (S476I +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2990795	NM_005505.5(SCARB1):c.1407A>C (p.Lys469Asn)	SCARB1 (K335N +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1630199	NM_005505.5(SCARB1):c.1402-16C>T	SCARB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1896896	NM_005505.5(SCARB1):c.1402-17G>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316820	NM_005505.5(SCARB1):c.1401+174T>C	SCARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1246761	NM_005505.5(SCARB1):c.1401+130T>C	SCARB1 (C470R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1642582	NM_005505.5(SCARB1):c.1359C>T (p.Cys453=)	SCARB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2891458	NM_005505.5(SCARB1):c.1338C>T (p.Tyr446=)	SCARB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1471665	NM_005505.5(SCARB1):c.1333C>T (p.Gln445Ter)	SCARB1 (Q379* +5 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 1379032	NM_005505.5(SCARB1):c.1330G>C (p.Ala444Pro)	SCARB1 (A310P +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2857053	NM_005505.5(SCARB1):c.1257C>T (p.Ser419=)	SCARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1911622	NM_005505.5(SCARB1):c.1255-4T>C	SCARB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3057962	NM_005505.5(SCARB1):c.1255-10G>A	SCARB1	Single nucleotide variant (intron variant)	SCARB1-related disorder	GLikely benign
Select item 1232985	NM_005505.5(SCARB1):c.1255-41C>G	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261540	NM_005505.5(SCARB1):c.1255-52T>G	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275395	NM_005505.5(SCARB1):c.1255-69G>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227556	NM_005505.5(SCARB1):c.1254+274G>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2970623	NM_005505.5(SCARB1):c.1254+11G>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969653	NM_005505.5(SCARB1):c.1244G>A (p.Trp415Ter)	SCARB1 (W281* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2078913	NM_005505.5(SCARB1):c.1210G>A (p.Gly404Arg)	SCARB1 (G270R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 594731	NM_005505.5(SCARB1):c.1203-4C>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1900321	NM_005505.5(SCARB1):c.1203-12_1203-9del	SCARB1	Deletion (intron variant)	not provided	GLikely benign
Select item 1282071	NM_005505.5(SCARB1):c.1202+216del	SCARB1	Deletion (intron variant)	not provided	GBenign
Select item 1316664	NM_005505.5(SCARB1):c.1202+80G>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989920	NM_005505.5(SCARB1):c.1202+18G>A	LOC129390586, SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2740755	NM_005505.5(SCARB1):c.1198A>G (p.Ile400Val)	LOC129390586, SCARB1 (I359V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2600996	NM_005505.5(SCARB1):c.1192G>A (p.Ala398Thr)	LOC129390586, SCARB1 (A398T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1417779	NM_005505.5(SCARB1):c.1133C>T (p.Thr378Met)	LOC129390586, SCARB1 (T244M +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2717196	NM_005505.5(SCARB1):c.1129-4G>A	LOC129390586, SCARB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270257	NM_005505.5(SCARB1):c.1129-7G>A	LOC129390586, SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284028	NM_005505.5(SCARB1):c.1129-161dup	SCARB1	Duplication (intron variant)	not provided	GBenign
Select item 1224844	NM_005505.5(SCARB1):c.1129-154del	SCARB1	Deletion (intron variant)	not provided	GBenign
Select item 1296954	NM_005505.5(SCARB1):c.1128+73C>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2759196	NM_005505.5(SCARB1):c.1128+3G>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 253091	NM_005505.5(SCARB1):c.1127C>T (p.Pro376Leu)	SCARB1 (P376L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2894921	NM_005505.5(SCARB1):c.1122C>T (p.Ile374=)	SCARB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2250337	NM_005505.5(SCARB1):c.1099G>A (p.Ala367Thr)	SCARB1 (A326T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2058875	NM_005505.5(SCARB1):c.1056G>A (p.Pro352=)	SCARB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1236346	NM_005505.5(SCARB1):c.1050T>C (p.Ala350=)	SCARB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2907729	NM_005505.5(SCARB1):c.1041C>T (p.Phe347=)	SCARB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2253449	NM_005505.5(SCARB1):c.1038C>A (p.His346Gln)	SCARB1 (H346Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1341573	NM_005505.5(SCARB1):c.1033C>A (p.Pro345Thr)	SCARB1 (P304T +2 more)	Single nucleotide variant (missense variant +2 more)	High density lipoprotein cholesterol level quantitative trait locus 6	GUncertain significance
Select item 3014020	NM_005505.5(SCARB1):c.1008C>T (p.Phe336=)	SCARB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2071472	NM_005505.5(SCARB1):c.991G>A (p.Val331Ile)	SCARB1 (V323I +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2715521	NM_005505.5(SCARB1):c.956G>T (p.Gly319Val)	SCARB1 (G319V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2282344	NM_005505.5(SCARB1):c.947C>A (p.Pro316His)	SCARB1 (P275H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2075612	NM_005505.5(SCARB1):c.933G>A (p.Gly311=)	SCARB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1984802	NM_005505.5(SCARB1):c.930C>T (p.Asn310=)	SCARB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1224092	NM_005505.5(SCARB1):c.903C>T (p.Phe301=)	SCARB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 30154	NM_005505.5(SCARB1):c.889C>T (p.Pro297Ser)	SCARB1 (P297S +2 more)	Single nucleotide variant (missense variant +2 more)	High density lipoprotein cholesterol level quantitative trait locus 6	Gassociation
Select item 1316875	NM_005505.5(SCARB1):c.843-180G>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227259	NM_005505.5(SCARB1):c.843-202A>G	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2966048	NM_005505.5(SCARB1):c.842+20G>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1598890	NM_005505.5(SCARB1):c.831G>A (p.Pro277=)	SCARB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1348712	NM_005505.5(SCARB1):c.830C>T (p.Pro277Leu)	SCARB1 (P269L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2723882	NM_005505.5(SCARB1):c.813G>A (p.Ser271=)	SCARB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3316411	NM_005505.5(SCARB1):c.811T>C (p.Ser271Pro)	SCARB1 (S263P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1974057	NM_005505.5(SCARB1):c.774T>C (p.Ser258=)	SCARB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2190937	NM_005505.5(SCARB1):c.745G>T (p.Asp249Tyr)	SCARB1 (D208Y +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1334398	NM_005505.5(SCARB1):c.727-2A>C	SCARB1	Single nucleotide variant (intron variant +1 more)	High density lipoprotein cholesterol level quantitative trait locus 6	GPathogenic
Select item 1317599	NM_005505.5(SCARB1):c.727-9T>C	SCARB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997487	NM_005505.5(SCARB1):c.727-13T>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1288656	NM_005505.5(SCARB1):c.727-193G>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274275	NM_005505.5(SCARB1):c.726+255G>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280787	NM_005505.5(SCARB1):c.726+55G>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250072	NM_005505.5(SCARB1):c.726+54C>T	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1920081	NM_005505.5(SCARB1):c.726+9C>T	SCARB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894618	NM_005505.5(SCARB1):c.726+8G>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1328069	NM_005505.5(SCARB1):c.715G>A (p.Gly239Arg)	SCARB1 (G198R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1404938	NM_005505.5(SCARB1):c.687C>G (p.Ser229Arg)	SCARB1 (S229R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2765285	NM_005505.5(SCARB1):c.685A>G (p.Ser229Gly)	SCARB1 (S188G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2271860	NM_005505.5(SCARB1):c.659C>T (p.Thr220Met)	SCARB1 (T179M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2703089	NM_005505.5(SCARB1):c.643G>A (p.Asp215Asn)	SCARB1 (D174N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1601376	NM_005505.5(SCARB1):c.631-14T>G	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278311	NM_005505.5(SCARB1):c.631-53C>T	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2572765	NM_005505.5(SCARB1):c.631-193C>T	SCARB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287588	NM_005505.5(SCARB1):c.631-203C>T	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259707	NM_005505.5(SCARB1):c.631-239C>T	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317128	NM_005505.5(SCARB1):c.630+15G>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 3003392	NM_005505.5(SCARB1):c.630+4C>T	SCARB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2318823	NM_005505.5(SCARB1):c.541T>C (p.Trp181Arg)	SCARB1 (W181R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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