"GeneDx"[submitter] AND "MGP"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146005	GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1	APOLD1, ARHGDIB +137 more	Copy number loss	See cases	GPathogenic
Select item 58986	GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1	APOLD1, ARHGDIB +140 more	Copy number loss	See cases	GPathogenic
Select item 881047	NM_000900.5(MGP):c.*206A>G	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome +1 more	GBenign/Likely benign
Select item 284369	NM_000900.5(MGP):c.304A>G (p.Thr102Ala)	MGP (T127A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1200509	NM_000900.5(MGP):c.171-64_171-63insGGAAAA	MGP	Insertion (intron variant)	not provided	GLikely benign
Select item 1199760	NM_000900.5(MGP):c.171-65del	MGP	Deletion (intron variant)	not provided	GLikely benign
Select item 1186574	NM_000900.5(MGP):c.171-67T>A	MGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207418	NM_000900.5(MGP):c.171-70_171-69del	MGP	Deletion (intron variant)	not provided	GLikely benign
Select item 1265716	NM_000900.5(MGP):c.171-295C>T	MGP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193363	NM_000900.5(MGP):c.170+264T>G	MGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234196	NM_000900.5(MGP):c.170+243_170+244dup	MGP	Duplication (intron variant)	not provided	GBenign
Select item 1224723	NM_000900.5(MGP):c.170+259del	MGP	Deletion (intron variant)	not provided	GBenign
Select item 1190700	NM_000900.5(MGP):c.170+243_170+245dup	MGP	Duplication (intron variant)	not provided	GLikely benign
Select item 1186293	NM_000900.5(MGP):c.170+243dup	MGP	Duplication (intron variant)	not provided	GLikely benign
Select item 1180979	NM_000900.5(MGP):c.170+258del	MGP	Deletion (intron variant)	not provided	GLikely benign
Select item 286292	NM_000900.5(MGP):c.157A>G (p.Lys53Glu)	MGP (K53E +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 281674	NM_000900.5(MGP):c.115A>C (p.Asn39His)	MGP (N39H +1 more)	Single nucleotide variant (missense variant)	Keutel syndrome +2 more	GBenign/Likely benign
Select item 1190973	NM_000900.5(MGP):c.95-294T>C	MGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 14344	NM_000900.5(MGP):c.94+1G>A	MGP	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 307773	NM_000900.5(MGP):c.62-18dup	MGP	Duplication (intron variant)	not provided +1 more	GBenign
Select item 307774	NM_000900.5(MGP):c.62-9del	MGP	Deletion (intron variant)	Keutel syndrome +1 more	GBenign/Likely benign
Select item 1194671	NM_000900.5(MGP):c.62-127G>A	MGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200376	NM_000900.5(MGP):c.62-179A>T	MGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191381	NM_000900.5(MGP):c.62-334T>C	MGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190655	NM_000900.5(MGP):c.62-346T>C	MGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210710	NM_000900.5(MGP):c.62-656T>C	MGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214189	NM_000900.5(MGP):c.61+738T>C	MGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189139	NM_000900.5(MGP):c.61+703T>C	MGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203539	NM_000900.5(MGP):c.61+198G>T	MGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189381	NM_000900.5(MGP):c.61+152A>G	MGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208960	NM_000900.5(MGP):c.61+147G>A	MGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 432101	NM_000900.5(MGP):c.56G>A (p.Cys19Tyr)	MGP (C19Y)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 307776	NM_000900.5(MGP):c.-63G>A	MGP	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1166186	NC_000012.12:g.14885985A>G	MGP	Single nucleotide variant	not provided	GBenign
Select item 1216564	NC_000012.12:g.14886032A>C	MGP	Single nucleotide variant	not provided	GLikely benign
Select item 1206973	NC_000012.12:g.14886036G>C	MGP	Single nucleotide variant	not provided	GLikely benign
Select item 1204409	NC_000012.12:g.14886052T>C	MGP	Single nucleotide variant	not provided	GLikely benign
Select item 1203871	NC_000012.12:g.14886141A>G	MGP	Single nucleotide variant	not provided	GLikely benign
Select item 253713	GRCh37/hg19 12p12.3(chr12:15034827-15677320)x1	RERG, MGP +4 more	Copy number loss	See cases	GUncertain significance
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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Items: 41