HMGCR[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 3040438	NM_000859.3(HMGCR):c.132T>C (p.Cys44=)	HMGCR	Single nucleotide variant (synonymous variant)	HMGCR-related disorder	GLikely benign
Select item 2523515	NM_000859.3(HMGCR):c.290T>A (p.Leu97His)	HMGCR (L97H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506432	NM_000859.3(HMGCR):c.365+4A>G	HMGCR	Single nucleotide variant (intron variant)	Muscular dystrophy, limb-girdle, autosomal recessive 28	GPathogenic
Select item 2470282	NM_000859.3(HMGCR):c.407G>A (p.Arg136Lys)	HMGCR (R136K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 225958	NM_000859.3(HMGCR):c.451-174A>T	HMGCR	Single nucleotide variant (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 14902	NG_011449.1(HMGCR):g.[14863A>T;27506T>G]	HMGCR	Single nucleotide variant (intron variant)	Statins, attenuated cholesterol lowering by	Gassociation
Select item 2475710	NM_000859.3(HMGCR):c.511G>A (p.Asp171Asn)	HMGCR (D171N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3058447	NM_000859.3(HMGCR):c.618C>T (p.Phe206=)	HMGCR	Single nucleotide variant (synonymous variant)	HMGCR-related disorder	GLikely benign
Select item 3034997	NM_000859.3(HMGCR):c.783T>A (p.Ser261=)	HMGCR	Single nucleotide variant (synonymous variant)	HMGCR-related disorder	GLikely benign
Select item 2400155	NM_000859.3(HMGCR):c.830C>T (p.Pro277Leu)	HMGCR (P277L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570007	NM_000859.3(HMGCR):c.862A>G (p.Lys288Glu)	HMGCR (K288E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053372	NM_000859.3(HMGCR):c.932A>C (p.Tyr311Ser)	HMGCR (Y311S)	Single nucleotide variant (missense variant)	HMGCR-related disorder	GBenign
Select item 2324532	NM_000859.3(HMGCR):c.947T>A (p.Ile316Asn)	HMGCR (I316N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461046	NM_000859.3(HMGCR):c.1029G>C (p.Glu343Asp)	HMGCR (E343D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288980	NM_000859.3(HMGCR):c.1102T>C (p.Cys368Arg)	HMGCR (C368R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106277	NM_000859.3(HMGCR):c.1306A>G (p.Ile436Val)	HMGCR (I436V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506434	NM_000859.3(HMGCR):c.1327C>T (p.Arg443Trp)	HMGCR (R443W)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 28	GPathogenic
Select item 2506430	NM_000859.3(HMGCR):c.1328G>A (p.Arg443Gln)	HMGCR (R443Q)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 28	GPathogenic
Select item 14903	NM_000859.3(HMGCR):c.1368+1176A>T	HMGCR	Single nucleotide variant (intron variant)	Low density lipoprotein cholesterol level quantitative trait locus 3	Gassociation
Select item 2506435	NM_000859.3(HMGCR):c.1519TCT[1] (p.Ser508del)	HMGCR (S508del)	Microsatellite (inframe_deletion)	Muscular dystrophy, limb-girdle, autosomal recessive 28	GPathogenic
Select item 2277124	NM_000859.3(HMGCR):c.1559C>T (p.Ser520Phe)	HMGCR (S520F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298224	NM_000859.3(HMGCR):c.1591A>G (p.Ile531Val)	HMGCR (I531V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3106278	NM_000859.3(HMGCR):c.1641T>A (p.Asp547Glu)	HMGCR (D547E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559787	NM_000859.3(HMGCR):c.1793G>A (p.Arg598His)	HMGCR (R598H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620865	NM_000859.3(HMGCR):c.1799G>A (p.Cys600Tyr)	HMGCR (C547Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506431	NM_000859.3(HMGCR):c.1867G>A (p.Asp623Asn)	HMGCR (D623N +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 28	GPathogenic
Select item 2655534	NM_000859.3(HMGCR):c.1986+501G>A	CERT1, HMGCR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2578980	NM_000859.3(HMGCR):c.1986+564C>T	CERT1, HMGCR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3047715	NM_000859.3(HMGCR):c.2235C>T (p.Ser745=)	HMGCR	Single nucleotide variant (synonymous variant)	HMGCR-related disorder	GLikely benign
Select item 3106279	NM_000859.3(HMGCR):c.2275G>A (p.Ala759Thr)	HMGCR (A759T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506433	NM_000859.3(HMGCR):c.2375A>G (p.Tyr792Cys)	HMGCR (Y792C +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 28	GPathogenic
Select item 1801492	NM_000859.3(HMGCR):c.2457+70C>T	HMGCR	Single nucleotide variant (intron variant)	Statins, attenuated cholesterol lowering by	Gdrug response
Select item 585242	NM_000859.3(HMGCR):c.2457+117T>G	HMGCR	Single nucleotide variant (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1803007	NM_000859.3(HMGCR):c.2465G>A (p.Gly822Asp)	HMGCR (G769D +1 more)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy	GPathogenic
Select item 2321572	NM_000859.3(HMGCR):c.2592A>C (p.Lys864Asn)	HMGCR (K864N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3060727	NM_000859.3(HMGCR):c.*8G>A	HMGCR	Single nucleotide variant (3 prime UTR variant)	HMGCR-related disorder	GBenign
Select item 1801491	NM_000859.3(HMGCR):c.*372T>C	HMGCR	Single nucleotide variant (3 prime UTR variant)	Statins, attenuated cholesterol lowering by	Gdrug response
Select item 2423200	NC_000005.9:g.(?_73980960)_(75008762_?)dup	GFM2, HEXB +9 more	Duplication	not provided	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 688843	GRCh37/hg19 5q13.3(chr5:74608171-74682279)x3	CERT1, HMGCR	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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Items: 45