ClinVar for MedGen (Select 444154) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 369619	NM_005502.3(ABCA1):c.-412C>G	ABCA1, LOC105376196 +1 more	Single nucleotide variant	Familial High Density Lipoprotein Deficiency +2 more	GBenign
Select item 364482	NM_005502.3(ABCA1):c.-343A>C	ABCA1, LOC105376196 +1 more	Single nucleotide variant	Familial High Density Lipoprotein Deficiency +1 more	GUncertain significance
Select item 364481	NM_005502.3(ABCA1):c.-327C>T	ABCA1, LOC105376196 +1 more	Single nucleotide variant	Familial High Density Lipoprotein Deficiency +2 more	GBenign
Select item 364470	NM_005502.4(ABCA1):c.-76dup	ABCA1	Duplication (5 prime UTR variant)	Familial High Density Lipoprotein Deficiency +2 more	GBenign
Select item 364453	NM_005502.4(ABCA1):c.814-14dup	ABCA1	Duplication (intron variant)	Tangier disease +4 more	GBenign
Select item 364391	NM_005502.4(ABCA1):c.5383-20_5383-18dup	ABCA1	Duplication (intron variant)	Familial High Density Lipoprotein Deficiency +4 more	GBenign
Select item 364390	NM_005502.4(ABCA1):c.5383-3del	ABCA1	Deletion (intron variant)	Familial High Density Lipoprotein Deficiency +3 more	GBenign
Select item 364388	NM_005502.4(ABCA1):c.5383-20_5383-17dup	ABCA1	Duplication (intron variant)	Familial High Density Lipoprotein Deficiency +3 more	GConflicting classifications of pathogenicity
Select item 364383	NM_005502.4(ABCA1):c.5870A>C (p.Lys1957Thr)	ABCA1 (K1957T)	Single nucleotide variant (missense variant)	Familial High Density Lipoprotein Deficiency +1 more	GUncertain significance
Select item 364376	NM_005502.4(ABCA1):c.*16del	ABCA1, NIPSNAP3B	Deletion (3 prime UTR variant)	Familial High Density Lipoprotein Deficiency +2 more	GBenign/Likely benign
Select item 364370	NM_005502.4(ABCA1):c.*321del	ABCA1, NIPSNAP3B	Deletion (3 prime UTR variant)	Familial High Density Lipoprotein Deficiency +1 more	GBenign
Select item 364362	NM_005502.4(ABCA1):c.*677A>G	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Familial High Density Lipoprotein Deficiency +1 more	GUncertain significance
Select item 364355	NM_005502.4(ABCA1):c.*1291del	ABCA1, NIPSNAP3B	Deletion (3 prime UTR variant)	Familial High Density Lipoprotein Deficiency +1 more	GLikely benign
Select item 364353	NM_005502.4(ABCA1):c.*1327G>A	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Familial High Density Lipoprotein Deficiency +1 more	GLikely benign
Select item 364352	NM_005502.4(ABCA1):c.*1373dup	ABCA1, NIPSNAP3B	Duplication (3 prime UTR variant)	Familial High Density Lipoprotein Deficiency +1 more	GLikely benign
Select item 364350	NM_005502.4(ABCA1):c.*1466del	NIPSNAP3B, ABCA1	Deletion (3 prime UTR variant)	Familial High Density Lipoprotein Deficiency +2 more	GBenign
Select item 364323	NM_005502.4(ABCA1):c.3205_3207del	ABCA1, NIPSNAP3B	Deletion (3 prime UTR variant)	Familial High Density Lipoprotein Deficiency +1 more	GLikely benign
Select item 364318	NM_005502.3(ABCA1):c.*3312A>C	ABCA1, NIPSNAP3B	Single nucleotide variant	Tangier disease +1 more	GUncertain significance
Select item 302505	NM_000039.3(APOA1):c.454G>A (p.Glu152Lys)	APOA1, APOA1-AS (E152K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial High Density Lipoprotein Deficiency +3 more	GConflicting classifications of pathogenicity