ClinVar for Gene (Select 949) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244437	NC_000012.11:g.(?_125263013)_(125473568_?)dup	DHX37, SCARB1 +1 more	Duplication	not provided	GUncertain significance
Select item 3244388	NC_000012.11:g.(?_125267229)_(125302273_?)dup	SCARB1	Duplication	not provided	GUncertain significance
Select item 3057962	NM_005505.5(SCARB1):c.1255-10G>A	SCARB1	Single nucleotide variant (intron variant)	SCARB1-related disorder	GLikely benign
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 3021709	NM_005505.5(SCARB1):c.54G>A (p.Gly18=)	LOC130009157, SCARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3015876	NM_005505.5(SCARB1):c.260G>A (p.Arg87Gln)	SCARB1 (R87Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3014020	NM_005505.5(SCARB1):c.1008C>T (p.Phe336=)	SCARB1	Single nucleotide variant (synonymous variant +2 more)	SCARB1-related disorder +1 more	GLikely benign
Select item 3006072	NM_005505.5(SCARB1):c.91A>T (p.Met31Leu)	LOC130009157, SCARB1 (M31L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3003392	NM_005505.5(SCARB1):c.630+4C>T	SCARB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2997487	NM_005505.5(SCARB1):c.727-13T>A	SCARB1	Single nucleotide variant (intron variant)	not provided	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 2975987	NM_005505.5(SCARB1):c.492C>T (p.Thr164=)	SCARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2967389	NM_005505.5(SCARB1):c.285-17A>C	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 2915735	NM_005505.5(SCARB1):c.474C>G (p.Ile158Met)	SCARB1 (I117M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2909467	NM_005505.5(SCARB1):c.136A>G (p.Ile46Val)	SCARB1 (I46V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2899931	NM_005505.5(SCARB1):c.285-9C>T	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2899547	NM_005505.5(SCARB1):c.51G>C (p.Ala17=)	LOC130009157, SCARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2899446	NM_005505.5(SCARB1):c.407T>A (p.Met136Lys)	SCARB1 (M136K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2894618	NM_005505.5(SCARB1):c.726+8G>A	SCARB1	Single nucleotide variant (intron variant)	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 2857053	NM_005505.5(SCARB1):c.1257C>T (p.Ser419=)	SCARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2770657	NM_005505.5(SCARB1):c.228C>T (p.Ser76=)	SCARB1	Single nucleotide variant (synonymous variant +1 more)	SCARB1-related disorder +1 more	GBenign/Likely benign
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 2762851	NM_005505.5(SCARB1):c.33C>G (p.Ala11=)	LOC130009157, SCARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2759196	NM_005505.5(SCARB1):c.1128+3G>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2735990	NM_005505.5(SCARB1):c.520C>T (p.Arg174Cys)	SCARB1 (R133C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2733662	NM_005505.5(SCARB1):c.126+4G>A	LOC130009157, SCARB1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2717196	NM_005505.5(SCARB1):c.1129-4G>A	LOC129390586, SCARB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2716608	NM_005505.5(SCARB1):c.431C>T (p.Ala144Val)	SCARB1 (A144V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2715521	NM_005505.5(SCARB1):c.956G>T (p.Gly319Val)	SCARB1 (G319V +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2703089	NM_005505.5(SCARB1):c.643G>A (p.Asp215Asn)	SCARB1 (D174N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2689910	NM_005505.5(SCARB1):c.251C>T (p.Pro84Leu)	SCARB1 (P43L +1 more)	Single nucleotide variant (missense variant +1 more)	High density lipoprotein cholesterol level quantitative trait locus 6	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2611896	NM_005505.5(SCARB1):c.454C>T (p.Pro152Ser)	SCARB1 (P111S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 2572765	NM_005505.5(SCARB1):c.631-193C>T	SCARB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2502161	NM_005505.5(SCARB1):c.83T>C (p.Met28Thr)	LOC130009157, SCARB1 (M28T)	Single nucleotide variant (missense variant +1 more)	High density lipoprotein cholesterol level quantitative trait locus 6	GUncertain significance
Select item 2495379	NM_005505.5(SCARB1):c.295C>T (p.His99Tyr)	SCARB1 (H99Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2421620	NM_005505.5(SCARB1):c.198C>T (p.Ser66=)	SCARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2419118	NM_005505.5(SCARB1):c.324C>T (p.Asn108=)	SCARB1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2401008	NM_005505.5(SCARB1):c.11C>G (p.Ser4Cys)	LOC130009157, SCARB1 (S4C)	Single nucleotide variant (missense variant +1 more)	not specified	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
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 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 2276387	NM_005505.5(SCARB1):c.490A>G (p.Thr164Ala)	SCARB1 (T164A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2257015	NM_005505.5(SCARB1):c.16A>G (p.Lys6Glu)	LOC130009157, SCARB1 (K6E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 2197796	NM_005505.5(SCARB1):c.266G>A (p.Arg89His)	SCARB1 (R48H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2170248	NM_005505.5(SCARB1):c.331G>A (p.Val111Met)	SCARB1 (V111M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2084137	NM_005505.5(SCARB1):c.330C>G (p.Thr110=)	SCARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2078913	NM_005505.5(SCARB1):c.1210G>A (p.Gly404Arg)	SCARB1 (G270R +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2075612	NM_005505.5(SCARB1):c.933G>A (p.Gly311=)	SCARB1	Single nucleotide variant (synonymous variant +2 more)	SCARB1-related disorder +1 more	GBenign/Likely benign
Select item 2071472	NM_005505.5(SCARB1):c.991G>A (p.Val331Ile)	SCARB1 (V323I +2 more)	Single nucleotide variant (missense variant +2 more)	SCARB1-related disorder +1 more	GLikely benign
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 2052867	NM_005505.5(SCARB1):c.427-9G>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 1988611	NM_005505.5(SCARB1):c.427-18T>C	SCARB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1974057	NM_005505.5(SCARB1):c.774T>C (p.Ser258=)	SCARB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1968028	NM_005505.5(SCARB1):c.1525C>G (p.Leu509Val)	SCARB1 (L481V +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1943934	NM_005505.5(SCARB1):c.142C>G (p.Pro48Ala)	SCARB1 (P48A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1928839	NM_005505.5(SCARB1):c.127-18T>C	SCARB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920081	NM_005505.5(SCARB1):c.726+9C>T	SCARB1	Single nucleotide variant (intron variant)	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 1900321	NM_005505.5(SCARB1):c.1203-12_1203-9del	SCARB1	Deletion (intron variant)	not provided	GLikely benign
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 1896896	NM_005505.5(SCARB1):c.1402-17G>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1809251	GRCh37/hg19 12q24.31-24.32(chr12:125346689-126135525)x3	AACS, BRI3BP +4 more	Copy number gain	not provided	GUncertain significance
Select item 1722187	NM_005505.5(SCARB1):c.38C>T (p.Ala13Val)	LOC130009157, SCARB1 (A13V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1702535	NM_005505.5(SCARB1):c.126+261G>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1671918	NM_005505.5(SCARB1):c.129C>T (p.Asn43=)	SCARB1	Single nucleotide variant (synonymous 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 1630199	NM_005505.5(SCARB1):c.1402-16C>T	SCARB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1623000	NM_005505.5(SCARB1):c.180T>C (p.Pro60=)	SCARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1601376	NM_005505.5(SCARB1):c.631-14T>G	SCARB1	Single nucleotide variant (intron variant)	SCARB1-related disorder +1 more	GBenign/Likely benign
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 1567337	NM_005505.5(SCARB1):c.216C>T (p.Val72=)	SCARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1551285	NM_005505.5(SCARB1):c.285-18C>T	SCARB1	Single nucleotide variant (intron variant)	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 1462855	NM_005505.5(SCARB1):c.387G>A (p.Ser129=)	SCARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1431573	NM_005505.5(SCARB1):c.499G>A (p.Gly167Ser)	SCARB1 (G126S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 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 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 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 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 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic

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