"PreventionGenetics, part of Exact Sciences"[submitter] AND "NPC1L1"[g - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3035704	NM_001101648.2(NPC1L1):c.3841G>A (p.Glu1281Lys)	NPC1L1 (E1281K +1 more)	Single nucleotide variant (missense variant)	NPC1L1-related disorder	GBenign
Select item 3035606	NM_001101648.2(NPC1L1):c.3797-11TC[2]	NPC1L1	Microsatellite (intron variant)	NPC1L1-related disorder	GBenign
Select item 3050413	NM_001101648.2(NPC1L1):c.1935G>A (p.Leu645=)	NPC1L1	Single nucleotide variant (synonymous variant)	NPC1L1-related disorder	GLikely benign
Select item 3049659	NM_001101648.2(NPC1L1):c.1722C>T (p.Phe574=)	NPC1L1	Single nucleotide variant (synonymous variant)	NPC1L1-related disorder	GLikely benign
Select item 3043386	NM_001101648.2(NPC1L1):c.1374G>A (p.Ser458=)	NPC1L1	Single nucleotide variant (synonymous variant)	NPC1L1-related disorder	GLikely benign
Select item 3038217	NM_001101648.2(NPC1L1):c.1249C>T (p.Arg417Trp)	NPC1L1 (R417W)	Single nucleotide variant (missense variant)	NPC1L1-related disorder	GLikely benign
Select item 3042730	NM_001101648.2(NPC1L1):c.1078G>A (p.Val360Ile)	NPC1L1 (V360I)	Single nucleotide variant (missense variant)	NPC1L1-related disorder	GBenign
Select item 3040474	NM_001101648.2(NPC1L1):c.1038G>A (p.Thr346=)	NPC1L1	Single nucleotide variant (synonymous variant)	NPC1L1-related disorder	GLikely benign
Select item 3055266	NM_001101648.2(NPC1L1):c.928G>T (p.Ala310Ser)	NPC1L1 (A310S)	Single nucleotide variant (missense variant)	NPC1L1-related disorder	GBenign
Select item 3053453	NM_001101648.2(NPC1L1):c.846G>A (p.Pro282=)	NPC1L1	Single nucleotide variant (synonymous variant)	NPC1L1-related disorder	GLikely benign
Select item 3048328	NM_001101648.2(NPC1L1):c.825C>T (p.Thr275=)	NPC1L1	Single nucleotide variant (synonymous variant)	NPC1L1-related disorder	GLikely benign
Select item 3041380	NM_001101648.2(NPC1L1):c.6G>A (p.Ala2=)	NPC1L1	Single nucleotide variant (synonymous variant)	NPC1L1-related disorder	GLikely benign