"GeneDx"[submitter] AND "PIGM"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 503728	NM_145167.3(PIGM):c.1254_1257del (p.Arg419fs)	PIGM (R419fs)	Microsatellite (frameshift variant)	not provided +2 more	GUncertain significance
Select item 1166403	NM_145167.3(PIGM):c.1150A>G (p.Asn384Asp)	PIGM (N384D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1164402	NM_145167.3(PIGM):c.1095T>A (p.Phe365Leu)	PIGM (F365L)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency +1 more	GBenign
Select item 2071768	NM_145167.3(PIGM):c.1090T>C (p.Trp364Arg)	PIGM (W364R)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency +1 more	GUncertain significance
Select item 426742	NM_145167.3(PIGM):c.961A>G (p.Thr321Ala)	PIGM (T321A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2576843	NM_145167.3(PIGM):c.827A>G (p.Tyr276Cys)	PIGM (Y276C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722137	NM_145167.3(PIGM):c.649G>C (p.Glu217Gln)	PIGM (E217Q)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency +1 more	GUncertain significance
Select item 1167407	NM_145167.3(PIGM):c.180C>T (p.Arg60=)	PIGM	Single nucleotide variant (synonymous variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency +1 more	GBenign/Likely benign
Select item 426722	NM_145167.3(PIGM):c.122G>A (p.Arg41Gln)	PIGM (R41Q)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1223274	NM_145167.3(PIGM):c.-137A>G	PIGM	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1263886	NC_000001.11:g.160032114C>A	PIGM	Single nucleotide variant	not provided	GBenign
Select item 1266449	NC_000001.11:g.160032179C>T	PIGM	Single nucleotide variant	not provided	GBenign
Select item 1196771	NC_000001.11:g.160032179C>G	PIGM	Single nucleotide variant	not provided	GLikely benign