MGP[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 154815	GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1	APOLD1, ARHGDIB +238 more	Copy number loss	See cases	GLikely pathogenic
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 307756	NM_000900.5(MGP):c.*755G>T	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GBenign
Select item 883397	NM_000900.5(MGP):c.*720C>A	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GUncertain significance
Select item 307757	NM_000900.5(MGP):c.*615A>G	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GBenign
Select item 307758	NM_000900.5(MGP):c.*604A>G	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GBenign
Select item 307759	NM_000900.5(MGP):c.*552A>T	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GBenign
Select item 307760	NM_000900.5(MGP):c.*538C>G	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GLikely benign
Select item 883398	NM_000900.5(MGP):c.*531T>C	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GUncertain significance
Select item 307761	NM_000900.5(MGP):c.*476T>C	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GUncertain significance
Select item 307762	NM_000900.5(MGP):c.*455del	LOC126861465, MGP	Deletion (3 prime UTR variant)	Keutel syndrome	GUncertain significance
Select item 307763	NM_000900.5(MGP):c.*343G>A	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GBenign
Select item 307764	NM_000900.5(MGP):c.*339T>C	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GBenign
Select item 307765	NM_000900.5(MGP):c.*315dup	LOC126861465, MGP	Duplication (3 prime UTR variant)	Keutel syndrome	GUncertain significance
Select item 307766	NM_000900.5(MGP):c.*251T>C	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GUncertain significance
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 881048	NM_000900.5(MGP):c.*176C>G	MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GUncertain significance
Select item 307767	NM_000900.5(MGP):c.*140T>C	MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GLikely benign
Select item 307768	NM_000900.5(MGP):c.*27T>G	MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GBenign
Select item 2171030	NM_000900.5(MGP):c.310T>C (p.Ter104Arg)	MGP	Single nucleotide variant (stop lost)	not provided	GUncertain significance
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 785395	NM_000900.5(MGP):c.299G>A (p.Arg100Gln)	MGP (R125Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2121329	NM_000900.5(MGP):c.298C>T (p.Arg100Ter)	MGP (R125* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1386800	NM_000900.5(MGP):c.296G>A (p.Arg99His)	MGP (R124H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1624298	NM_000900.5(MGP):c.294G>A (p.Lys98=)	MGP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180081	NM_000900.5(MGP):c.281G>A (p.Arg94His)	MGP (R119H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1554340	NM_000900.5(MGP):c.267T>C (p.Asn89=)	MGP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1047201	NM_000900.5(MGP):c.250A>C (p.Met84Leu)	MGP (M109L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1666851	NM_000900.5(MGP):c.246C>T (p.Tyr82=)	MGP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1523138	NM_000900.5(MGP):c.239_242dup (p.Tyr82fs)	MGP (Y107fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2187453	NM_000900.5(MGP):c.242G>C (p.Arg81Pro)	MGP (R106P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 307769	NM_000900.5(MGP):c.237C>T (p.Cys79=)	MGP	Single nucleotide variant (synonymous variant)	Keutel syndrome	GUncertain significance
Select item 307770	NM_000900.5(MGP):c.234T>C (p.Leu78=)	MGP	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2628916	NM_000900.5(MGP):c.226T>C (p.Tyr76His)	MGP (Y101H +1 more)	Single nucleotide variant (missense variant)	MGP-related disorder	GUncertain significance
Select item 1060638	NM_000900.5(MGP):c.215C>G (p.Ala72Gly)	MGP (A72G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 307771	NM_000900.5(MGP):c.207T>C (p.Asn69=)	MGP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1021830	NM_000900.5(MGP):c.206A>G (p.Asn69Ser)	MGP (N69S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878898	NM_000900.5(MGP):c.205A>C (p.Asn69His)	MGP (N69H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1000174	NM_000900.5(MGP):c.199G>A (p.Glu67Lys)	MGP (E67K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 728682	NM_000900.5(MGP):c.198C>T (p.His66=)	MGP	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1510377	NM_000900.5(MGP):c.182G>A (p.Arg61His)	MGP (R61H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1980288	NM_000900.5(MGP):c.176G>A (p.Arg59Gln)	MGP (R59Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1622567	NM_000900.5(MGP):c.171-16T>G	MGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1603241	NM_000900.5(MGP):c.168G>A (p.Glu56=)	MGP	Single nucleotide variant (synonymous 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)	Keutel syndrome +2 more	GBenign/Likely benign
Select item 2142369	NM_000900.5(MGP):c.154G>T (p.Ala52Ser)	MGP (A52S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098373	NM_000900.5(MGP):c.139C>G (p.Gln47Glu)	MGP (Q47E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 281674	NM_000900.5(MGP):c.115A>C (p.Asn39His)	MGP (N39H +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1380649	NM_000900.5(MGP):c.97C>G (p.Pro33Ala)	MGP (P33A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1896498	NM_000900.5(MGP):c.95-18T>C	MGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1905472	NM_000900.5(MGP):c.95-19A>G	MGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190973	NM_000900.5(MGP):c.95-294T>C	MGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1574701	NM_000900.5(MGP):c.94+17C>T	MGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987659	NM_000900.5(MGP):c.94+2T>C	MGP	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 2055589	NM_000900.5(MGP):c.87T>C (p.Tyr29=)	MGP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 14343	NM_000900.5(MGP):c.87T>A (p.Tyr29Ter)	MGP (Y29* +1 more)	Single nucleotide variant (nonsense)	Keutel syndrome	GPathogenic
Select item 307772	NM_000900.5(MGP):c.84T>C (p.Ser28=)	MGP	Single nucleotide variant (synonymous variant)	Keutel syndrome +1 more	GConflicting classifications of pathogenicity
Select item 882668	NM_000900.5(MGP):c.77T>C (p.Met26Thr)	MGP (M26T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1979715	NM_000900.5(MGP):c.75C>A (p.Ser25Arg)	MGP (S50R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1622600	NM_000900.5(MGP):c.69T>C (p.His23=)	MGP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2433745	NM_000900.5(MGP):c.62A>T (p.Glu21Val)	MGP (E21V +1 more)	Single nucleotide variant (missense variant)	Keutel syndrome	GUncertain significance
Select item 14342	NM_000900.5(MGP):c.62-2A>G	MGP	Single nucleotide variant (splice acceptor variant)	Keutel syndrome	GPathogenic
Select item 1551039	NM_000900.5(MGP):c.62-10_62-9dup	MGP	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 307773	NM_000900.5(MGP):c.62-18dup	MGP	Duplication (intron variant)	MGP-related disorder +2 more	GBenign
Select item 3003539	NM_000900.5(MGP):c.62-13_62-9del	MGP	Deletion (intron variant)	not provided	GLikely benign
Select item 307774	NM_000900.5(MGP):c.62-9del	MGP	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1906290	NM_000900.5(MGP):c.62-19C>T	MGP	Single nucleotide variant (intron variant)	not provided	GLikely 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 377307	NM_000900.5(MGP):c.62-638G>C	MGP (E22D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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

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