"Color Diagnostics, LLC DBA Color Health"[submitter] AND "LOC106560211 - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 627785	NM_000384.3(APOB):c.238-6T>C	APOB, LOC106560211	Single nucleotide variant (intron variant)	Familial hypobetalipoproteinemia 1 +2 more	GBenign
Select item 918868	NM_000384.3(APOB):c.238-9A>T	APOB, LOC106560211	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 630944	NM_000384.3(APOB):c.237+8G>T	APOB, LOC106560211	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 924433	NM_000384.3(APOB):c.237+4T>C	APOB, LOC106560211	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 548044	NM_000384.3(APOB):c.218C>A (p.Ala73Asp)	APOB, LOC106560211 (A73D)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +5 more	GConflicting classifications of pathogenicity
Select item 919669	NM_000384.3(APOB):c.215G>A (p.Ser72Asn)	APOB, LOC106560211 (S72N)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 627970	NM_000384.3(APOB):c.202G>A (p.Ala68Thr)	LOC106560211, APOB (A68T)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 920621	NM_000384.3(APOB):c.187G>A (p.Gly63Arg)	APOB, LOC106560211 (G63R)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +3 more	GUncertain significance
Select item 517778	NM_000384.3(APOB):c.168T>C (p.Tyr56=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +4 more	GBenign/Likely benign
Select item 921121	NM_000384.3(APOB):c.166T>C (p.Tyr56His)	APOB, LOC106560211 (Y56H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 490386	NM_000384.3(APOB):c.157A>T (p.Thr53Ser)	APOB, LOC106560211 (T53S)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 431490	NM_000384.3(APOB):c.154T>C (p.Tyr52His)	LOC106560211, APOB (Y52H)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +5 more	GUncertain significance
Select item 926075	NM_000384.3(APOB):c.152A>G (p.Lys51Arg)	APOB, LOC106560211 (K51R)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 more	GConflicting classifications of pathogenicity
Select item 919961	NM_000384.3(APOB):c.143A>T (p.His48Leu)	LOC106560211, APOB (H48L)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GUncertain significance
Select item 918936	NM_000384.3(APOB):c.141G>A (p.Lys47=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 630364	NM_000384.3(APOB):c.133C>G (p.Arg45Gly)	APOB, LOC106560211 (R45G)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 630365	NM_000384.3(APOB):c.129G>A (p.Ala43=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 334189	NM_000384.3(APOB):c.129G>C (p.Ala43=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +4 more	GBenign
Select item 924103	NM_000384.3(APOB):c.128C>T (p.Ala43Val)	APOB, LOC106560211 (A43V)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 923853	NM_000384.3(APOB):c.110T>A (p.Leu37Gln)	APOB, LOC106560211 (L37Q)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 630366	NM_000384.3(APOB):c.107G>C (p.Ser36Thr)	APOB, LOC106560211 (S36T)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +3 more	GLikely benign
Select item 630367	NM_000384.3(APOB):c.85G>A (p.Glu29Lys)	APOB, LOC106560211 (E29K)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +2 more	GUncertain significance
Select item 334190	NM_000384.3(APOB):c.83-11C>T	APOB, LOC106560211	Single nucleotide variant (intron variant)	Familial hypobetalipoproteinemia 1 +2 more	GConflicting classifications of pathogenicity

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Items: 23