Related gene-specific medical variations for Gene (Select 401491) - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 2986211	NM_003383.5(VLDLR):c.42G>A (p.Ala14=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2974539	NM_003383.5(VLDLR):c.82+18C>T	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2961130	NM_003383.5(VLDLR):c.27C>T (p.Leu9=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2895079	NM_003383.5(VLDLR):c.6C>G (p.Gly2=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2889794	NM_003383.5(VLDLR):c.31C>T (p.Leu11=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2871484	NM_003383.5(VLDLR):c.9G>A (p.Thr3=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2857227	NM_003383.5(VLDLR):c.82+18C>G	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2821961	NM_003383.5(VLDLR):c.45G>A (p.Leu15=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2805692	NM_003383.5(VLDLR):c.9G>T (p.Thr3=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2796109	NM_003383.5(VLDLR):c.15G>C (p.Ala5=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2751853	NM_003383.5(VLDLR):c.33G>A (p.Leu11=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2715606	NM_003383.5(VLDLR):c.57C>A (p.Pro19=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2659036	NM_003383.5(VLDLR):c.-296_-277dup	VLDLR, VLDLR-AS1	Duplication (5 prime UTR variant)	not provided	GLikely benign
Select item 2094029	NM_003383.5(VLDLR):c.60G>A (p.Arg20=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1313792	NM_003383.5(VLDLR):c.43C>G (p.Leu15Val)	LOC130001468, VLDLR +1 more (L15V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1215620	NC_000009.12:g.2621559G>A	LOC121740738, VLDLR +1 more	Single nucleotide variant	not provided	GLikely benign
Select item 1205019	NM_003383.5(VLDLR):c.82+44G>C	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1201496	NC_000009.12:g.2621560A>G	LOC121740738, VLDLR +1 more	Single nucleotide variant	not provided	GLikely benign
Select item 1197718	NM_003383.5(VLDLR):c.82+52G>C	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 914011	NM_003383.5(VLDLR):c.-48G>C	VLDLR, VLDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 913613	NM_003383.5(VLDLR):c.-99C>G	VLDLR, VLDLR-AS1	Single nucleotide variant (5 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 913612	NM_003383.5(VLDLR):c.-154C>G	VLDLR, VLDLR-AS1	Single nucleotide variant (5 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +1 more	GUncertain significance
Select item 912499	NM_003383.5(VLDLR):c.-207G>A	VLDLR, VLDLR-AS1	Single nucleotide variant (5 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 912498	NM_003383.5(VLDLR):c.-302T>C	VLDLR, VLDLR-AS1	Single nucleotide variant (5 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 912497	NM_003383.5(VLDLR):c.-303C>G	VLDLR, VLDLR-AS1	Single nucleotide variant (5 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 746203	NM_003383.5(VLDLR):c.15G>A (p.Ala5=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 673304	NM_003383.3(VLDLR):c.-626G>A	LOC121740738, VLDLR +1 more	Single nucleotide variant	not provided	GLikely benign
Select item 667580	NM_003383.3(VLDLR):c.-708C>G	LOC121740738, VLDLR +1 more	Single nucleotide variant	not provided	GBenign
Select item 509895	NM_003383.5(VLDLR):c.18C>T (p.Leu6=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GLikely benign
Select item 437218	NM_003383.5(VLDLR):c.78A>T (p.Gly26=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 437217	NM_003383.5(VLDLR):c.64A>T (p.Ser22Cys)	LOC130001468, VLDLR +1 more (S22C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 423718	NM_003383.5(VLDLR):c.82G>A (p.Gly28Arg)	VLDLR, LOC130001468 +1 more (G28R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 420696	NM_003383.5(VLDLR):c.-42GGC[6]	VLDLR, VLDLR-AS1	Microsatellite (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 420327	NM_003383.5(VLDLR):c.-19_-18insGGCACC	VLDLR, VLDLR-AS1	Insertion (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 392426	NM_003383.5(VLDLR):c.39C>T (p.Leu13=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 366359	NM_003383.5(VLDLR):c.71C>A (p.Ala24Asp)	LOC130001468, VLDLR +1 more (A24D)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital cerebellar hypoplasia +3 more	GConflicting classifications of pathogenicity
Select item 366358	NM_003383.5(VLDLR):c.-19_-18insGGCACCGGC	VLDLR, VLDLR-AS1	Insertion (non-coding transcript variant +1 more)	Congenital cerebellar hypoplasia +1 more	GConflicting classifications of pathogenicity
Select item 366357	NM_003383.5(VLDLR):c.-25_-24insATCCAG	VLDLR, VLDLR-AS1	Insertion (non-coding transcript variant +1 more)	Congenital cerebellar hypoplasia	GUncertain significance
Select item 366356	NM_003383.5(VLDLR):c.-42GGC[4]	VLDLR, VLDLR-AS1	Microsatellite (non-coding transcript variant +1 more)	Congenital cerebellar hypoplasia	GUncertain significance
Select item 366355	NM_003383.5(VLDLR):c.-42GGC[7]	VLDLR, VLDLR-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 366354	NM_003383.5(VLDLR):c.-56C>T	VLDLR, VLDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital cerebellar hypoplasia +2 more	GBenign
Select item 366353	NM_003383.5(VLDLR):c.-56_-54del	VLDLR, VLDLR-AS1	Deletion (non-coding transcript variant +1 more)	Congenital cerebellar hypoplasia	GUncertain significance
Select item 366352	NM_003383.5(VLDLR):c.-69A>G	VLDLR, VLDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital cerebellar hypoplasia +2 more	GBenign
Select item 366351	NM_003383.5(VLDLR):c.-111C>T	VLDLR, VLDLR-AS1	Single nucleotide variant (5 prime UTR variant)	Congenital cerebellar hypoplasia +1 more	GConflicting classifications of pathogenicity
Select item 366350	NM_003383.5(VLDLR):c.-113C>G	VLDLR-AS1, VLDLR	Single nucleotide variant (5 prime UTR variant)	Congenital cerebellar hypoplasia +2 more	GConflicting classifications of pathogenicity
Select item 366349	NM_003383.5(VLDLR):c.-121C>T	VLDLR, VLDLR-AS1	Single nucleotide variant (5 prime UTR variant)	Congenital cerebellar hypoplasia +1 more	GUncertain significance
Select item 366348	NM_003383.5(VLDLR):c.-122T>C	VLDLR, VLDLR-AS1	Single nucleotide variant (5 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +1 more	GUncertain significance
Select item 366347	NM_003383.5(VLDLR):c.-171G>C	VLDLR, VLDLR-AS1	Single nucleotide variant (5 prime UTR variant)	Congenital cerebellar hypoplasia +2 more	GConflicting classifications of pathogenicity
Select item 366346	NM_003383.5(VLDLR):c.-167dup	VLDLR, VLDLR-AS1	Duplication (5 prime UTR variant)	Congenital cerebellar hypoplasia	GUncertain significance
Select item 366345	NM_003383.5(VLDLR):c.-335C>T	VLDLR, VLDLR-AS1	Single nucleotide variant (5 prime UTR variant)	Congenital cerebellar hypoplasia +1 more	GUncertain significance
Select item 366344	NM_003383.5(VLDLR):c.-392C>T	VLDLR, VLDLR-AS1	Single nucleotide variant (5 prime UTR variant)	Congenital cerebellar hypoplasia +2 more	GUncertain significance
Select item 290493	NM_003383.5(VLDLR):c.-42GGC[5]	VLDLR, VLDLR-AS1	Microsatellite (non-coding transcript variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 287823	NM_003383.5(VLDLR):c.-42GGC[9]	VLDLR, VLDLR-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 212563	NM_003383.5(VLDLR):c.75C>T (p.Thr25=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 212557	NM_003383.5(VLDLR):c.2T>C (p.Met1Thr)	VLDLR, VLDLR-AS1 (M1T)	Single nucleotide variant (non-coding transcript variant +2 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GLikely pathogenic
Select item 130713	NM_003383.5(VLDLR):c.82+7G>A	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital cerebellar hypoplasia +3 more	GBenign
Select item 130710	NM_003383.5(VLDLR):c.24G>A (p.Ala8=)	VLDLR, VLDLR-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital cerebellar hypoplasia +3 more	GBenign/Likely benign

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Links from Gene

Items: 61