Related gene-specific medical variations for Gene (Select 949) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244388	NC_000012.11:g.(?_125267229)_(125302273_?)dup	SCARB1	Duplication	not provided	GUncertain significance
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 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 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 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 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 2733662	NM_005505.5(SCARB1):c.126+4G>A	LOC130009157, SCARB1	Single nucleotide variant (intron variant)	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 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 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 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 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 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 1989920	NM_005505.5(SCARB1):c.1202+18G>A	LOC129390586, SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1290029	NM_005505.5(SCARB1):c.21G>C (p.Ala7=)	LOC130009157, SCARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1283556	NM_005505.5(SCARB1):c.12C>T (p.Ser4=)	LOC130009157, SCARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1270257	NM_005505.5(SCARB1):c.1129-7G>A	LOC129390586, SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264359	NM_005505.5(SCARB1):c.4G>A (p.Gly2Ser)	LOC130009157, SCARB1 (G2S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 815563	GRCh37/hg19 12q24.31(chr12:125061845-125390744)x3	SCARB1	Copy number gain	not provided	GUncertain significance
Select item 788443	NM_005505.5(SCARB1):c.63C>T (p.Cys21=)	LOC130009157, SCARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 221855	GRCh37/hg19 12q24.31(chr12:125260645-125321461)x3	SCARB1	Copy number gain	Premature ovarian failure	GUncertain significance

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Links from Gene

Items: 23