"PreventionGenetics, part of Exact Sciences"[submitter] AND "GP1BB"[ge - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3033503	NM_000407.5(GP1BB):c.-14G>A	GP1BB, SEPT5-GP1BB	Single nucleotide variant (non-coding transcript variant +1 more)	GP1BB-related disorder	GLikely benign
Select item 3031447	NM_000407.5(GP1BB):c.24G>T (p.Ala8=)	GP1BB, SEPT5-GP1BB	Single nucleotide variant (non-coding transcript variant +1 more)	GP1BB-related disorder	GLikely benign
Select item 2632385	NM_000407.5(GP1BB):c.94T>C (p.Cys32Arg)	GP1BB, SEPT5-GP1BB (C32R)	Single nucleotide variant (non-coding transcript variant +1 more)	GP1BB-related disorder	GUncertain significance
Select item 728381	NM_000407.5(GP1BB):c.102G>A (p.Gly34=)	GP1BB, SEPT5-GP1BB	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 3047263	NM_000407.5(GP1BB):c.177G>A (p.Glu59=)	GP1BB, SEPT5-GP1BB	Single nucleotide variant (non-coding transcript variant +1 more)	GP1BB-related disorder	GLikely benign
Select item 2637189	NM_000407.5(GP1BB):c.212_244del (p.Pro71_Leu81del)	GP1BB, SEPT5-GP1BB	Deletion (non-coding transcript variant +1 more)	GP1BB-related disorder	GUncertain significance
Select item 3036458	NM_000407.5(GP1BB):c.249C>G (p.Thr83=)	GP1BB, SEPT5-GP1BB	Single nucleotide variant (non-coding transcript variant +1 more)	GP1BB-related disorder	GLikely benign
Select item 727504	NM_000407.5(GP1BB):c.306C>T (p.Ala102=)	GP1BB, SEPT5-GP1BB	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 771784	NM_000407.5(GP1BB):c.389C>T (p.Pro130Leu)	GP1BB, SEPT5-GP1BB (P130L)	Single nucleotide variant (non-coding transcript variant +1 more)	Bernard Soulier syndrome +3 more	GConflicting classifications of pathogenicity
Select item 256031	NM_000407.5(GP1BB):c.399C>T (p.Ala133=)	GP1BB, SEPT5-GP1BB	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3049342	NM_000407.5(GP1BB):c.409C>T (p.Leu137=)	GP1BB, SEPT5-GP1BB	Single nucleotide variant (non-coding transcript variant +1 more)	GP1BB-related disorder	GLikely benign
Select item 2432237	NM_000407.5(GP1BB):c.436C>T (p.Leu146Phe)	GP1BB, SEPT5-GP1BB (L146F)	Single nucleotide variant (non-coding transcript variant +1 more)	GP1BB-related disorder +1 more	GUncertain significance
Select item 734568	NM_000407.5(GP1BB):c.576G>A (p.Leu192=)	GP1BB, SEPT5-GP1BB	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign