ClinVar for Gene (Select 7436) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379843	NM_003383.5(VLDLR):c.260G>T (p.Ser87Ile)	VLDLR (S87I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361183	NM_003383.5(VLDLR):c.1841T>C (p.Leu614Pro)	VLDLR (L573P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341845	NM_003383.5(VLDLR):c.957G>A (p.Leu319=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3332105	NM_003383.5(VLDLR):c.2140G>C (p.Gly714Arg)	VLDLR (G673R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332104	NM_003383.5(VLDLR):c.1948C>A (p.Leu650Ile)	VLDLR (L609I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332103	NM_003383.5(VLDLR):c.539G>C (p.Ser180Thr)	VLDLR (S139T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332102	NM_003383.5(VLDLR):c.2558G>C (p.Ser853Thr)	VLDLR (S784T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332101	NM_003383.5(VLDLR):c.295G>T (p.Asp99Tyr)	VLDLR (D99Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255613	NM_003383.5(VLDLR):c.821-1G>A	VLDLR	Single nucleotide variant (splice acceptor variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GPathogenic
Select item 3252471	NM_003383.5(VLDLR):c.1459G>A (p.Asp487Asn)	LOC130001471, VLDLR (D446N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251105	NM_003383.5(VLDLR):c.1053C>T (p.Pro351=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3245347	NC_000009.11:g.(?_214977)_(2729727_?)dup	DMRT1, DMRT2 +7 more	Duplication	not provided	GUncertain significance
Select item 3245316	NC_000009.11:g.(?_2635433)_(2651974_?)del	VLDLR	Deletion	not provided	GPathogenic
Select item 3245315	NC_000009.11:g.(?_2635433)_(2648830_?)del	VLDLR	Deletion	not provided	GPathogenic
Select item 3245314	NC_000009.11:g.(?_2622190)_(2650536_?)del	VLDLR	Deletion	not provided	GPathogenic
Select item 3245313	NC_000009.11:g.(?_2622190)_(2653868_?)del	VLDLR	Deletion	not provided	GPathogenic
Select item 3188684	NM_003383.5(VLDLR):c.947A>G (p.Asn316Ser)	VLDLR (N275S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188683	NM_003383.5(VLDLR):c.734A>C (p.Gln245Pro)	VLDLR (Q245P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188682	NM_003383.5(VLDLR):c.559G>T (p.Asp187Tyr)	VLDLR (D146Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188681	NM_003383.5(VLDLR):c.277G>C (p.Gly93Arg)	VLDLR (G93R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188680	NM_003383.5(VLDLR):c.2593G>A (p.Val865Ile)	VLDLR (V824I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188679	NM_003383.5(VLDLR):c.2572C>T (p.His858Tyr)	VLDLR (H817Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188677	NM_003383.5(VLDLR):c.2131G>A (p.Glu711Lys)	VLDLR (E670K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188675	NM_003383.5(VLDLR):c.1567G>A (p.Val523Met)	VLDLR (V482M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188674	NM_003383.5(VLDLR):c.14C>T (p.Ala5Val)	LOC130001468, VLDLR +1 more (A5V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3188672	NM_003383.5(VLDLR):c.1268G>A (p.Arg423His)	VLDLR (R423H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188671	NM_003383.5(VLDLR):c.1178C>G (p.Thr393Ser)	VLDLR (T352S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188670	NM_003383.5(VLDLR):c.1075G>A (p.Glu359Lys)	VLDLR (E359K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188669	NM_003383.5(VLDLR):c.1069A>G (p.Ile357Val)	VLDLR (I316V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3148906	GRCh37/hg19 9p24.2(chr9:2527902-4077112)x3	GLIS3, KCNV2 +3 more	Copy number gain	See cases	GUncertain significance
Select item 3064031	NM_003383.5(VLDLR):c.1124T>G (p.Val375Gly)	VLDLR (V334G +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	Gnot provided
Select item 3063123	GRCh37/hg19 9p24.3-24.1(chr9:203862-8548307)x1	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 3063089	GRCh37/hg19 9p24.3-23(chr9:203861-9128400)x1	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 3063080	GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1	AK3, BRD10 +47 more	Copy number loss	not specified	GPathogenic
Select item 3063076	GRCh37/hg19 9p24.2(chr9:2596150-2973485)x3	KCNV2, PUM3 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063070	GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1	ADAMTSL1, AK3 +57 more	Copy number loss	not specified	GPathogenic
Select item 3030487	NM_003383.5(VLDLR):c.7A>C (p.Thr3Pro)	LOC130001468, VLDLR +1 more (T3P)	Single nucleotide variant (non-coding transcript variant +1 more)	VLDLR-related disorder	GUncertain significance
Select item 3022393	NM_003383.5(VLDLR):c.1484+14C>A	LOC130001471, VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020274	NM_003383.5(VLDLR):c.2416+16A>G	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019951	NM_003383.5(VLDLR):c.1464A>C (p.Leu488=)	LOC130001471, VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019918	NM_003383.5(VLDLR):c.1890T>C (p.Asn630=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019045	NM_003383.5(VLDLR):c.1380A>G (p.Glu460=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019031	NM_003383.5(VLDLR):c.663A>G (p.Gln221=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018600	NM_003383.5(VLDLR):c.82+9G>A	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3017894	NM_003383.5(VLDLR):c.1872A>G (p.Leu624=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016959	NM_003383.5(VLDLR):c.1066+1G>A	VLDLR	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3015441	NM_003383.5(VLDLR):c.1461T>C (p.Asp487=)	LOC130001471, VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015335	NM_003383.5(VLDLR):c.1056G>A (p.Leu352=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013641	NM_003383.5(VLDLR):c.2478C>T (p.Asn826=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012552	NM_003383.5(VLDLR):c.1823-7T>C	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012294	NM_003383.5(VLDLR):c.1332C>T (p.Ile444=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012031	NM_003383.5(VLDLR):c.291C>T (p.Cys97=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011833	NM_003383.5(VLDLR):c.1187-20A>G	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011560	NM_003383.5(VLDLR):c.82+16C>T	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3010591	NM_003383.5(VLDLR):c.1677C>T (p.Ala559=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010230	NM_003383.5(VLDLR):c.820+18A>G	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009194	NM_003383.5(VLDLR):c.1839C>T (p.Arg613=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007711	NM_003383.5(VLDLR):c.1635C>T (p.Thr545=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006250	NM_003383.5(VLDLR):c.936C>T (p.Cys312=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005705	NM_003383.5(VLDLR):c.820+9C>T	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005362	NM_003383.5(VLDLR):c.2417-6T>C	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004847	NM_003383.5(VLDLR):c.2397A>G (p.Ala799=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004829	NM_003383.5(VLDLR):c.1663T>C (p.Leu555=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004527	NM_003383.5(VLDLR):c.2417-12G>A	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004466	NM_003383.5(VLDLR):c.821-9C>T	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004051	NM_003383.5(VLDLR):c.203-4G>A	VLDLR	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 3004022	NM_003383.5(VLDLR):c.2523T>G (p.Thr841=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002843	NM_003383.5(VLDLR):c.1983T>C (p.Asp661=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000718	NM_003383.5(VLDLR):c.363C>T (p.Gly121=)	VLDLR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3000578	NM_003383.5(VLDLR):c.2349C>T (p.Thr783=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000547	NM_003383.5(VLDLR):c.2105-8C>T	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000292	NM_003383.5(VLDLR):c.1186+19C>G	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999649	NM_003383.5(VLDLR):c.943+15T>C	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999329	NM_003383.5(VLDLR):c.2170C>T (p.Gln724Ter)	VLDLR (Q683* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2999098	NM_003383.5(VLDLR):c.1698G>C (p.Leu566=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998918	NM_003383.5(VLDLR):c.516A>T (p.Val172=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998885	NM_003383.5(VLDLR):c.1878C>T (p.Ser626=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998757	NM_003383.5(VLDLR):c.2022T>C (p.Thr674=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997865	NM_003383.5(VLDLR):c.2252-10del	VLDLR	Deletion (intron variant)	not provided	GBenign
Select item 2997809	NM_003383.5(VLDLR):c.1170T>C (p.Asp390=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997050	NM_003383.5(VLDLR):c.1067-8T>C	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995994	NM_003383.5(VLDLR):c.2508G>A (p.Val836=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995343	NM_003383.5(VLDLR):c.943+16T>C	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995180	NM_003383.5(VLDLR):c.2586+17T>A	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994830	NM_003383.5(VLDLR):c.2496T>C (p.Phe832=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994716	NM_003383.5(VLDLR):c.1866C>T (p.His622=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994559	NM_003383.5(VLDLR):c.2586+14G>A	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994052	NM_003383.5(VLDLR):c.1776T>A (p.Arg592=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994021	NM_003383.5(VLDLR):c.2556C>T (p.His852=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992476	NM_003383.5(VLDLR):c.821-10C>T	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992321	NM_003383.5(VLDLR):c.597G>A (p.Gln199=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990348	NM_003383.5(VLDLR):c.141G>A (p.Thr47=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990181	NM_003383.5(VLDLR):c.2417-4dup	VLDLR	Duplication (intron variant)	not provided	GBenign
Select item 2989678	NM_003383.5(VLDLR):c.708C>T (p.His236=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987839	NM_003383.5(VLDLR):c.83-10_83-8del	VLDLR	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2987720	NM_003383.5(VLDLR):c.1186+14G>A	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986969	NM_003383.5(VLDLR):c.2417-20T>A	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986755	NM_003383.5(VLDLR):c.1962+9T>A	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986718	NM_003383.5(VLDLR):c.2586+9G>T	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign

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