ClinVar for MedGen (Select 208651) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2506539	GRCh37/hg19 5q31.1(chr5:133956623-133959709)	SAR1B	Copy number loss	Chylomicron retention disease	GLikely pathogenic
Select item 1325033	NM_016103.4(SAR1B):c.247C>T (p.Arg83Ter)	SAR1B (R83*)	Single nucleotide variant (nonsense)	Chylomicron retention disease +1 more	GPathogenic/Likely pathogenic
Select item 1236079	NM_016103.4(SAR1B):c.480+18del	SAR1B	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1170812	NM_016103.4(SAR1B):c.133C>T (p.Leu45=)	SAR1B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1162261	NM_016356.5(DCDC2):c.346G>T (p.Glu116Ter)	DCDC2 (E116*)	Single nucleotide variant (nonsense)	Chylomicron retention disease	GPathogenic
Select item 985564	NM_016103.4(SAR1B):c.336del (p.Glu113fs)	SAR1B (E113fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 522346	NM_016103.4(SAR1B):c.280A>C (p.Asn94His)	SAR1B (N94H)	Single nucleotide variant (missense variant)	Chylomicron retention disease	GUncertain significance
Select item 2929	NM_016103.4(SAR1B):c.554G>T (p.Gly185Val)	SAR1B (G185V)	Single nucleotide variant (missense variant)	Chylomicron retention disease	GPathogenic
Select item 2928	NM_016103.4(SAR1B):c.364G>T (p.Glu122Ter)	SAR1B (E122*)	Single nucleotide variant (nonsense)	Chylomicron retention disease	GPathogenic
Select item 2927	NM_016103.4(SAR1B):c.349-1G>C	SAR1B	Single nucleotide variant (splice acceptor variant)	Chylomicron retention disease	GPathogenic
Select item 2926	NM_016103.4(SAR1B):c.555_558dup (p.Gly187fs)	SAR1B (G187fs)	Duplication (frameshift variant)	Chylomicron retention disease	GPathogenic
Select item 2925	NM_016103.4(SAR1B):c.537T>A (p.Ser179Arg)	SAR1B (S179R)	Single nucleotide variant (missense variant)	SAR1B-related condition	GLikely pathogenic
Select item 2924	NM_016103.4(SAR1B):c.75_76del (p.Thr25_Gly26insTer)	SAR1B	Deletion (frameshift variant)	Chylomicron retention disease	GPathogenic
Select item 2923	NM_016103.4(SAR1B):c.409G>A (p.Asp137Asn)	SAR1B (D137N)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2922	NM_016103.4(SAR1B):c.109G>A (p.Gly37Arg)	SAR1B (G37R)	Single nucleotide variant (missense variant)	Chylomicron retention disease	GPathogenic