ClinVar for Gene (Select 4256) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3053091	NM_000900.5(MGP):c.-6G>A	MGP	Single nucleotide variant (5 prime UTR variant)	MGP-related disorder	GLikely benign
Select item 3015415	NM_000900.5(MGP):c.34G>A (p.Ala12Thr)	MGP (A12T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013754	NM_000900.5(MGP):c.61+16C>T	MGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003539	NM_000900.5(MGP):c.62-13_62-9del	MGP	Deletion (intron variant)	not provided	GLikely benign
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 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
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 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
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 2423434	NC_000012.11:g.(?_15035073)_(15038725_?)dup	MGP	Duplication	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 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 2171030	NM_000900.5(MGP):c.310T>C (p.Ter104Arg)	MGP	Single nucleotide variant (stop lost)	not provided	GUncertain significance
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 2121329	NM_000900.5(MGP):c.298C>T (p.Arg100Ter)	MGP (R125* +1 more)	Single nucleotide variant (nonsense)	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 2055589	NM_000900.5(MGP):c.87T>C (p.Tyr29=)	MGP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1992249	NM_000900.5(MGP):c.61+16C>G	MGP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1987659	NM_000900.5(MGP):c.94+2T>C	MGP	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 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 1906290	NM_000900.5(MGP):c.62-19C>T	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 1896498	NM_000900.5(MGP):c.95-18T>C	MGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	FAM234B, GOLT1B +85 more	Copy number loss	not provided	GPathogenic
Select item 1666851	NM_000900.5(MGP):c.246C>T (p.Tyr82=)	MGP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1631345	NM_000900.5(MGP):c.61+20T>C	MGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1624298	NM_000900.5(MGP):c.294G>A (p.Lys98=)	MGP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1622600	NM_000900.5(MGP):c.69T>C (p.His23=)	MGP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1622567	NM_000900.5(MGP):c.171-16T>G	MGP	Single nucleotide variant (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 1574701	NM_000900.5(MGP):c.94+17C>T	MGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1554340	NM_000900.5(MGP):c.267T>C (p.Asn89=)	MGP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
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 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 1501580	NM_000900.5(MGP):c.41C>T (p.Ala14Val)	MGP (A14V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1440295	NC_000012.11:g.(?_14849146)_(15669910_?)dup	ARHGDIB, ART4 +11 more	Duplication	not provided	GUncertain significance
Select item 1436741	NC_000012.11:g.(?_11803062)_(15835885_?)dup	APOLD1, ARHGDIB +32 more	Duplication	Developmental and epileptic encephalopathy, 27 +1 more	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 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 1373923	NM_000900.5(MGP):c.56G>T (p.Cys19Phe)	MGP (C19F)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1265716	NM_000900.5(MGP):c.171-295C>T	MGP	Single nucleotide variant (intron variant)	not provided	GBenign
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 1216564	NC_000012.12:g.14886032A>C	MGP	Single nucleotide 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 1210710	NM_000900.5(MGP):c.62-656T>C	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 1207418	NM_000900.5(MGP):c.171-70_171-69del	MGP	Deletion (intron 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 1203539	NM_000900.5(MGP):c.61+198G>T	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 1200376	NM_000900.5(MGP):c.62-179A>T	MGP	Single nucleotide variant (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 1194671	NM_000900.5(MGP):c.62-127G>A	MGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193363	NM_000900.5(MGP):c.170+264T>G	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 1190973	NM_000900.5(MGP):c.95-294T>C	MGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190700	NM_000900.5(MGP):c.170+243_170+245dup	MGP	Duplication (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 1189381	NM_000900.5(MGP):c.61+152A>G	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 1186574	NM_000900.5(MGP):c.171-67T>A	MGP	Single nucleotide variant (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 1166186	NC_000012.12:g.14885985A>G	MGP	Single nucleotide variant	not provided	GBenign
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 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 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 1006633	NM_000900.5(MGP):c.25A>C (p.Ile9Leu)	MGP (I9L)	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 883398	NM_000900.5(MGP):c.*531T>C	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GUncertain significance
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 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 881048	NM_000900.5(MGP):c.*176C>G	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 815505	GRCh37/hg19 12p13.2-12.3(chr12:11737824-16780886)x1	APOLD1, ARHGDIB +37 more	Copy number loss	not provided	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
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 746959	NM_000900.5(MGP):c.61+10T>G	MGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 740943	NM_000900.5(MGP):c.42G>A (p.Ala14=)	MGP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734625	NM_000900.5(MGP):c.33C>T (p.Ala11=)	MGP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
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 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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