ClinVar for MedGen (Select 892402) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1708368	NM_000016.6(ACADM):c.430A>T (p.Lys144Ter)	ACADM (K108* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1705275	NM_000236.3(LIPC):c.1052-1G>C	LIPC	Single nucleotide variant (splice acceptor variant)	Abnormal circulating lipid concentration	GPathogenic
Select item 1705274	NM_000236.3(LIPC):c.748T>C (p.Phe250Leu)	LIPC (F250L)	Single nucleotide variant (missense variant)	Abnormal circulating lipid concentration	GLikely pathogenic
Select item 1705273	NM_000527.5(LDLR):c.1298A>T (p.Asp433Val)	LDLR (D265V +3 more)	Single nucleotide variant (missense variant)	Abnormal circulating lipid concentration	GLikely pathogenic
Select item 1705272	NM_000527.5(LDLR):c.1338del (p.Ser447fs)	LDLR (S279fs +3 more)	Deletion (frameshift variant)	Abnormal circulating lipid concentration	GPathogenic
Select item 1705271	NM_000078.3(CETP):c.1103del (p.Pro368fs)	CETP (P308fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 1705270	NM_022437.3(ABCG8):c.1938_1939delinsT (p.Val647fs)	ABCG8 (V646fs +1 more)	Indel (frameshift variant)	Abnormal circulating lipid concentration	GPathogenic
Select item 1704642	NM_022436.3(ABCG5):c.64C>T (p.Gln22Ter)	ABCG5 (Q22*)	Single nucleotide variant (nonsense)	Abnormal circulating lipid concentration +1 more	GLikely pathogenic
Select item 375636	NM_000041.4(APOE):c.461G>T (p.Arg154Leu)	APOE (R154L +1 more)	Single nucleotide variant (missense variant)	Abnormal circulating lipid concentration	GLikely pathogenic
Select item 3586	NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)	ACADM (K329E +4 more)	Single nucleotide variant (missense variant)	ACADM-related condition +7 more	GPathogenic/Likely pathogenic