"GeneDx"[submitter] AND "SAR1B"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 1247459	NM_016103.4(SAR1B):c.*148A>G	SAR1B	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1198158	NM_016103.4(SAR1B):c.481-13T>C	SAR1B	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1222984	NM_016103.4(SAR1B):c.480+205G>C	SAR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284009	NM_016103.4(SAR1B):c.480+125C>A	SAR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300530	NM_016103.4(SAR1B):c.480+102T>C	SAR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236079	NM_016103.4(SAR1B):c.480+18del	SAR1B	Deletion (intron variant)	Chylomicron retention disease +1 more	GBenign
Select item 1311044	NM_016103.4(SAR1B):c.370A>G (p.Ile124Val)	SAR1B (I124V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1202373	NM_016103.4(SAR1B):c.349-84T>G	SAR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 728544	NM_016103.4(SAR1B):c.321G>A (p.Arg107=)	SAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3372740	NM_016103.4(SAR1B):c.304T>A (p.Cys102Ser)	SAR1B (C102S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 789284	NM_016103.4(SAR1B):c.244+9C>T	SAR1B	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 817510	NM_016103.4(SAR1B):c.194_197dup (p.Ala67fs)	SAR1B (A67fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1170812	NM_016103.4(SAR1B):c.133C>T (p.Leu45=)	SAR1B	Single nucleotide variant (synonymous variant)	Chylomicron retention disease +1 more	GBenign
Select item 1219925	NM_016103.4(SAR1B):c.59-23C>A	SAR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215927	NM_016103.4(SAR1B):c.59-51G>A	SAR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196755	NM_016103.4(SAR1B):c.59-145G>A	SAR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183059	NM_016103.4(SAR1B):c.58+149A>T	SAR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283275	NM_016103.4(SAR1B):c.-18-136G>C	SAR1B	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 20