SC5D[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	See cases	GPathogenic
Select item 151354	GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1	ACRV1, ARHGEF12 +255 more	Copy number loss	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 145002	GRCh38/hg38 11q23.3-24.2(chr11:120426093-124771213)x1	ARHGEF12, BLID +184 more	Copy number loss	See cases	GPathogenic
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	ACAD8, ACRV1 +488 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 151345	GRCh38/hg38 11q23.3-24.1(chr11:121248538-121592523)x3	LOC105369535, LOC114803469 +32 more	Copy number gain	See cases	GLikely benign
Select item 303048	NM_006918.4(SC5D):c.-127T>G	SC5D	Single nucleotide variant	Lathosterolosis	GUncertain significance
Select item 303049	NM_006918.4(SC5D):c.-94C>G	LOC130006930, SC5D	Single nucleotide variant	Lathosterolosis	GUncertain significance
Select item 303050	NM_006918.4(SC5D):c.-91C>G	LOC130006930, SC5D	Single nucleotide variant	Lathosterolosis	GUncertain significance
Select item 873292	NM_006918.5(SC5D):c.-10-2064del	SC5D	Deletion (intron variant)	not specified	GBenign
Select item 1930429	NM_006918.5(SC5D):c.5A>G (p.Asp2Gly)	SC5D (D2G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177124	NM_006918.5(SC5D):c.16C>T (p.Arg6Cys)	SC5D (R6C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1943675	NM_006918.5(SC5D):c.17G>C (p.Arg6Pro)	SC5D (R6P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1050356	NM_006918.5(SC5D):c.22G>A (p.Ala8Thr)	SC5D (A8T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2122710	NM_006918.5(SC5D):c.48_49insTGGATGT (p.Val17fs)	SC5D (V17fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 1545780	NM_006918.5(SC5D):c.57A>G (p.Pro19=)	SC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899234	NM_006918.5(SC5D):c.63A>G (p.Thr21=)	SC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811606	NM_006918.5(SC5D):c.68del (p.Pro23fs)	SC5D (P23fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 7354	NM_006918.5(SC5D):c.86G>A (p.Arg29Gln)	SC5D (R29Q)	Single nucleotide variant (missense variant)	Lathosterolosis	GPathogenic
Select item 2060827	NM_006918.5(SC5D):c.98G>A (p.Ser33Asn)	SC5D (S33N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2522262	NM_006918.5(SC5D):c.106A>T (p.Ile36Phe)	SC5D (I36F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 7356	NM_006918.5(SC5D):c.137A>C (p.Tyr46Ser)	SC5D (Y46S)	Single nucleotide variant (missense variant)	Lathosterolosis	GPathogenic
Select item 879882	NM_006918.5(SC5D):c.151A>G (p.Thr51Ala)	SC5D (T51A)	Single nucleotide variant (missense variant)	Lathosterolosis	GUncertain significance
Select item 1975152	NM_006918.5(SC5D):c.162T>C (p.Tyr54=)	SC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1364124	NM_006918.5(SC5D):c.164A>G (p.Tyr55Cys)	SC5D (Y55C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1394998	NM_006918.5(SC5D):c.169G>C (p.Val57Leu)	SC5D (V57L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 731620	NM_006918.5(SC5D):c.174C>T (p.Phe58=)	SC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1420238	NM_006918.5(SC5D):c.175G>A (p.Asp59Asn)	SC5D (D59N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 879883	NM_006918.5(SC5D):c.181G>A (p.Ala61Thr)	SC5D (A61T)	Single nucleotide variant (missense variant)	Lathosterolosis	GUncertain significance
Select item 1369377	NM_006918.5(SC5D):c.189G>T (p.Met63Ile)	SC5D (M63I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1601729	NM_006918.5(SC5D):c.210+19T>A	SC5D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 873297	NM_006918.5(SC5D):c.210+368_210+370del	SC5D	Deletion (intron variant)	not specified	GBenign
Select item 1615816	NM_006918.5(SC5D):c.211-14A>G	SC5D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677238	NM_006918.5(SC5D):c.211-8A>T	SC5D	Single nucleotide variant (intron variant)	Lathosterolosis +1 more	GBenign/Likely benign
Select item 2063306	NM_006918.5(SC5D):c.211-2A>G	SC5D	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 638393	NM_006918.5(SC5D):c.223C>T (p.Arg75Ter)	SC5D (R75*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 303051	NM_006918.5(SC5D):c.224G>A (p.Arg75Gln)	SC5D (R75Q)	Single nucleotide variant (missense variant)	Lathosterolosis	GUncertain significance
Select item 1926554	NM_006918.5(SC5D):c.234G>C (p.Lys78Asn)	SC5D (K78N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679342	NM_006918.5(SC5D):c.268_269del (p.Leu90fs)	SC5D (L90fs)	Deletion (frameshift variant)	Lathosterolosis +2 more	GConflicting classifications of pathogenicity
Select item 3158100	NM_006918.5(SC5D):c.295A>G (p.Ile99Val)	SC5D (I99V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2982339	NM_006918.5(SC5D):c.306C>T (p.Tyr102=)	SC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1481682	NM_006918.5(SC5D):c.323A>G (p.Asp108Gly)	SC5D (D108G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1665225	NM_006918.5(SC5D):c.327A>T (p.Leu109=)	SC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3347048	NM_006918.5(SC5D):c.343+1G>T	SC5D	Single nucleotide variant (splice donor variant)	SC5D-related disorder	GUncertain significance
Select item 303052	NM_006918.5(SC5D):c.343+3A>G	SC5D	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2958987	NM_006918.5(SC5D):c.343+15C>T	SC5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1653920	NM_006918.5(SC5D):c.343+15C>A	SC5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009421	NM_006918.5(SC5D):c.343+16G>A	SC5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1627406	NM_006918.5(SC5D):c.343+17A>C	SC5D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211150	NM_006918.5(SC5D):c.343+149T>C	SC5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226518	NM_006918.5(SC5D):c.343+190_343+191del	SC5D	Deletion (intron variant)	not provided	GBenign
Select item 1200329	NM_006918.5(SC5D):c.343+245T>C	SC5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 877943	NM_006918.5(SC5D):c.344-15C>T	SC5D	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1528387	NM_006918.5(SC5D):c.344-14G>A	SC5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 303053	NM_006918.5(SC5D):c.344-8T>C	SC5D	Single nucleotide variant (intron variant)	Lathosterolosis	GUncertain significance
Select item 1922991	NM_006918.5(SC5D):c.360C>T (p.Val120=)	SC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1616130	NM_006918.5(SC5D):c.381C>G (p.Leu127=)	SC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3158101	NM_006918.5(SC5D):c.396G>T (p.Met132Ile)	SC5D (M132I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1369666	NM_006918.5(SC5D):c.407G>A (p.Trp136Ter)	SC5D (W136*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1460511	NM_006918.5(SC5D):c.418G>A (p.Gly140Ser)	SC5D (G140S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 811763	NM_006918.5(SC5D):c.442A>G (p.Lys148Glu)	SC5D (K148E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2809052	NM_006918.5(SC5D):c.444+9A>T	SC5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 303054	NM_006918.5(SC5D):c.444+11T>C	SC5D	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1278551	NM_006918.5(SC5D):c.445-280G>A	SC5D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219347	NM_006918.5(SC5D):c.445-128A>G	SC5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600602	NM_006918.5(SC5D):c.445-19G>T	SC5D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 303055	NM_006918.5(SC5D):c.447C>T (p.Arg149=)	SC5D	Single nucleotide variant (synonymous variant)	Lathosterolosis	GUncertain significance
Select item 1896514	NM_006918.5(SC5D):c.452A>G (p.His151Arg)	SC5D (H151R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1670293	NM_006918.5(SC5D):c.459T>C (p.Pro153=)	SC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 916042	NM_006918.5(SC5D):c.479C>G (p.Pro160Arg)	SC5D (P160R)	Single nucleotide variant (missense variant)	Lathosterolosis	GPathogenic
Select item 3316302	NM_006918.5(SC5D):c.482C>T (p.Thr161Ile)	SC5D (T161I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1679319	NM_006918.5(SC5D):c.535C>T (p.Pro179Ser)	SC5D (P179S)	Single nucleotide variant (missense variant)	Lathosterolosis	GUncertain significance
Select item 733321	NM_006918.5(SC5D):c.544A>G (p.Ile182Val)	SC5D (I182V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1967586	NM_006918.5(SC5D):c.546A>G (p.Ile182Met)	SC5D (I182M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1433868	NM_006918.5(SC5D):c.548A>G (p.Tyr183Cys)	SC5D (Y183C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3316303	NM_006918.5(SC5D):c.566T>C (p.Leu189Ser)	SC5D (L189S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1897409	NM_006918.5(SC5D):c.599T>C (p.Leu200Ser)	SC5D (L200S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1633086	NM_006918.5(SC5D):c.606T>C (p.Asn202=)	SC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1722313	NM_006918.5(SC5D):c.608T>C (p.Ile203Thr)	SC5D (I203T)	Single nucleotide variant (missense variant)	Lathosterolosis	GUncertain significance
Select item 877944	NM_006918.5(SC5D):c.624T>G (p.Ile208Met)	SC5D (I208M)	Single nucleotide variant (missense variant)	Lathosterolosis	GUncertain significance
Select item 1351319	NM_006918.5(SC5D):c.630C>T (p.Asp210=)	SC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 916041	NM_006918.5(SC5D):c.630C>A (p.Asp210Glu)	SC5D (D210E)	Single nucleotide variant (missense variant)	Lathosterolosis	GPathogenic
Select item 3158102	NM_006918.5(SC5D):c.631G>A (p.Gly211Ser)	SC5D (G211S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2181281	NM_006918.5(SC5D):c.631G>C (p.Gly211Arg)	SC5D (G211R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 7355	NM_006918.5(SC5D):c.632G>A (p.Gly211Asp)	SC5D (G211D)	Single nucleotide variant (missense variant)	Lathosterolosis	GPathogenic
Select item 2301425	NM_006918.5(SC5D):c.640C>T (p.Arg214Cys)	SC5D (R214C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1588667	NM_006918.5(SC5D):c.641G>A (p.Arg214His)	SC5D (R214H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 591161	NM_006918.5(SC5D):c.649C>T (p.Gln217Ter)	SC5D (Q217*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

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