"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "GP1BA"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380456	NM_000173.7(GP1BA):c.7CTC[2] (p.Leu10del)	GP1BA (L10del)	Microsatellite	not provided	GUncertain significance
Select item 585094	NM_000173.7(GP1BA):c.92T>C (p.Val31Ala)	GP1BA (V31A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3346586	NM_000173.7(GP1BA):c.321C>G (p.Ser107Arg)	GP1BA (S107R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3381152	NM_000173.7(GP1BA):c.517AAC[2] (p.Asn175del)	GP1BA (N175del)	Microsatellite	not provided	GLikely pathogenic
Select item 3380458	NM_000173.7(GP1BA):c.620T>G (p.Phe207Cys)	GP1BA (F207C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4155	NM_000173.7(GP1BA):c.763A>G (p.Met255Val)	GP1BA (M255V)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 3380459	NM_000173.7(GP1BA):c.854A>C (p.Asp285Ala)	GP1BA (D285A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380460	NM_000173.7(GP1BA):c.1310C>G (p.Pro437Arg)	GP1BA (P437R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700496	NM_000173.7(GP1BA):c.1349C>T (p.Pro450Leu)	GP1BA (P450L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3381153	NM_000173.7(GP1BA):c.1368_1371del (p.Thr457fs)	GP1BA (T457fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic