"Invitae"[submitter] AND "BPGM"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1399352	NM_001724.5(BPGM):c.182A>C (p.Asn61Thr)	BPGM (N61T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2081153	NM_001724.5(BPGM):c.186G>A (p.Arg62=)	BPGM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 12091	NM_001724.5(BPGM):c.268C>T (p.Arg90Cys)	BPGM (R90C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2008074	NM_001724.5(BPGM):c.313T>G (p.Leu105Val)	BPGM (L105V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1535791	NM_001724.5(BPGM):c.369G>A (p.Pro123=)	BPGM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189562	NM_001724.5(BPGM):c.435C>T (p.Cys145=)	BPGM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759959	NM_001724.5(BPGM):c.486G>A (p.Leu162=)	BPGM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180069	NM_001724.5(BPGM):c.526G>A (p.Glu176Lys)	BPGM (E176K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2162801	NM_001724.5(BPGM):c.546C>T (p.Thr182=)	BPGM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965826	NM_001724.5(BPGM):c.639T>C (p.Pro213=)	BPGM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2704279	NM_001724.5(BPGM):c.679C>T (p.Arg227Cys)	BPGM (R227C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	ACTR3C, ADCK2 +141 more	Deletion	not provided	GPathogenic