10087[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 2655534	NM_000859.3(HMGCR):c.1986+501G>A	CERT1, HMGCR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2578980	NM_000859.3(HMGCR):c.1986+564C>T	CERT1, HMGCR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2655535	NM_001379002.1(CERT1):c.*9+5291A>G	CERT1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2673015	NM_001379002.1(CERT1):c.*9+5200dup	CERT1 (L576fs)	Duplication (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1675987	NM_005713.3(CERT1):c.*10-7C>T	CERT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206283	NM_005713.3(CERT1):c.*10-8del	CERT1	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 746640	NM_001379029.1(CERT1):c.1833T>C (p.Ser611=)	CERT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1810312	NM_001379029.1(CERT1):c.1823G>C (p.Arg608Pro)	CERT1 (R582P +2 more)	Single nucleotide variant (missense variant +1 more)	COL4A3BP-Related Disorder	Gnot provided
Select item 1309511	NM_001379029.1(CERT1):c.1823G>T (p.Arg608Leu)	CERT1 (R582L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 766008	NM_001379029.1(CERT1):c.1800A>G (p.Arg600=)	CERT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2505711	NM_001379029.1(CERT1):c.1771G>T (p.Ala591Ser)	CERT1 (A565S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 748827	NM_001379029.1(CERT1):c.1748-4G>A	CERT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 728001	NM_001379029.1(CERT1):c.1743T>C (p.Ala581=)	CERT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1698012	NM_001379029.1(CERT1):c.1733C>T (p.Thr578Ile)	CERT1 (T552I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 756393	NM_001379029.1(CERT1):c.1722A>G (p.Leu574=)	CERT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728946	NM_001379029.1(CERT1):c.1707C>T (p.Ser569=)	CERT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618619	NM_001379029.1(CERT1):c.1706G>A (p.Ser569Asn)	CERT1 (S569N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2655536	NM_001379029.1(CERT1):c.1686A>G (p.Pro562=)	CERT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1710195	NM_001379029.1(CERT1):c.1637G>A (p.Arg546His)	CERT1 (R520H +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 2637648	NM_001379029.1(CERT1):c.1636C>T (p.Arg546Cys)	CERT1 (R520C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 445815	NM_001379029.1(CERT1):c.1616C>T (p.Pro539Leu)	CERT1 (P667L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1804869	NM_001379029.1(CERT1):c.1613C>T (p.Ala538Val)	CERT1 (A512V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608178	NM_001379029.1(CERT1):c.1610G>A (p.Ser537Asn)	CERT1 (S665N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2663386	NM_001379029.1(CERT1):c.1564G>T (p.Asp522Tyr)	CERT1 (D496Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3058154	NM_001379029.1(CERT1):c.1521A>G (p.Leu507=)	CERT1	Single nucleotide variant (synonymous variant)	CERT1-related condition	GLikely benign
Select item 1309269	NM_001379029.1(CERT1):c.1504_1511del (p.Ser502fs)	CERT1 (S630fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 791531	NM_001379029.1(CERT1):c.1510C>A (p.Arg504=)	CERT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2444632	NM_001379029.1(CERT1):c.1498C>A (p.Pro500Thr)	CERT1 (P474T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 724882	NM_001379029.1(CERT1):c.1489-6_1489-5insA	CERT1	Insertion (intron variant)	not provided	GLikely benign
Select item 724883	NM_001379029.1(CERT1):c.1489-6C>T	CERT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2655537	NM_001379029.1(CERT1):c.1465A>G (p.Ile489Val)	CERT1 (I463V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1683632	NM_001379029.1(CERT1):c.1439T>C (p.Val480Ala)	CERT1 (V454A +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 3068940	NM_001379029.1(CERT1):c.1418-16_1418-14del	CERT1	Microsatellite (intron variant)	not specified	GLikely benign
Select item 1275144	NM_001379029.1(CERT1):c.1371A>G (p.Glu457=)	CERT1	Single nucleotide variant (synonymous variant)	CERT1-related condition +1 more	GBenign
Select item 932620	NM_001379029.1(CERT1):c.1368T>A (p.His456Gln)	CERT1 (H430Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504168	NM_001379029.1(CERT1):c.1367A>G (p.His456Arg)	CERT1 (H430R +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34	GLikely benign
Select item 1804518	NM_001379029.1(CERT1):c.1355G>A (p.Gly452Asp)	CERT1 (G426D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3063954	NM_001379029.1(CERT1):c.1346C>T (p.Ala449Val)	CERT1 (A423V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 592133	NM_001379029.1(CERT1):c.1335del (p.Ala446fs)	CERT1 (A420fs +2 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 3046937	NM_001379029.1(CERT1):c.1317T>A (p.Ile439=)	CERT1	Single nucleotide variant (synonymous variant)	CERT1-related condition	GLikely benign
Select item 634569	NM_001379029.1(CERT1):c.1301T>G (p.Val434Gly)	CERT1 (V562G +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 2672255	NM_001379029.1(CERT1):c.1300G>A (p.Val434Ile)	CERT1 (V408I +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 1707359	NM_001379029.1(CERT1):c.1289A>G (p.Tyr430Cys)	CERT1 (Y404C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 718279	NM_001379029.1(CERT1):c.1287A>G (p.Val429=)	CERT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 762415	NM_001379029.1(CERT1):c.1284+8C>T	CERT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1313649	NM_001379029.1(CERT1):c.1284+1G>A	CERT1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 726500	NM_001379029.1(CERT1):c.1227A>G (p.Leu409=)	CERT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 871778	NM_001379029.1(CERT1):c.1213A>G (p.Met405Val)	CERT1 (M533V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3068266	NM_001379029.1(CERT1):c.1212C>G (p.His404Gln)	CERT1 (H378Q +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 2688766	NM_001379029.1(CERT1):c.1201G>T (p.Val401Leu)	CERT1 (V375L +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 1804870	NM_001379029.1(CERT1):c.1201G>C (p.Val401Leu)	CERT1 (V375L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059489	NM_001379029.1(CERT1):c.1189-8T>C	CERT1	Single nucleotide variant (intron variant)	CERT1-related condition	GBenign
Select item 752177	NM_001379029.1(CERT1):c.1185C>T (p.Ser395=)	CERT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2574370	NM_001379029.1(CERT1):c.1154G>T (p.Ser385Ile)	CERT1 (S385I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1319303	NM_001379029.1(CERT1):c.1147C>G (p.Leu383Val)	CERT1 (L383V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1695131	NM_001379029.1(CERT1):c.1115A>G (p.Tyr372Cys)	CERT1 (Y372C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 737608	NM_001379029.1(CERT1):c.1107A>G (p.Gln369=)	CERT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741908	NM_001379029.1(CERT1):c.1104C>A (p.Val368=)	CERT1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1298996	NM_001379029.1(CERT1):c.1074C>G (p.Ala358=)	CERT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2440316	NM_001379029.1(CERT1):c.1073C>G (p.Ala358Gly)	CERT1 (A358G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 2610341	NM_001379029.1(CERT1):c.1054T>G (p.Ser352Ala)	CERT1 (S352A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3058719	NM_001379029.1(CERT1):c.1041A>G (p.Leu347=)	CERT1	Single nucleotide variant (synonymous variant)	CERT1-related condition	GLikely benign
Select item 2655538	NM_001379029.1(CERT1):c.999A>C (p.Gln333His)	CERT1 (Q333H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1202758	NM_001379029.1(CERT1):c.957AGA[1] (p.Glu321del)	CERT1 (E321del +1 more)	Microsatellite (inframe_deletion)	not provided	GPathogenic
Select item 3038073	NM_001379029.1(CERT1):c.954T>C (p.Asn318=)	CERT1	Single nucleotide variant (synonymous variant)	CERT1-related condition	GLikely benign
Select item 1703318	NM_001379029.1(CERT1):c.943A>T (p.Ser315Cys)	CERT1 (S315C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 726192	NM_001379029.1(CERT1):c.936C>G (p.Gly312=)	CERT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738145	NM_001379029.1(CERT1):c.931-7G>C	CERT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2663558	NM_001379029.1(CERT1):c.923A>T (p.Asp308Val)	CERT1 (D308V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1199412	NM_001379029.1(CERT1):c.905C>A (p.Ser302Tyr)	CERT1 (S302Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 3063729	NM_001379029.1(CERT1):c.871T>C (p.Tyr291His)	CERT1 (Y291H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2442565	NM_001379029.1(CERT1):c.769G>C (p.Ala257Pro)	CERT1 (A257P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1025281	NM_001379029.1(CERT1):c.761G>A (p.Gly254Glu)	CERT1 (G254E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 788983	NM_001379029.1(CERT1):c.735G>A (p.Ala245=)	CERT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2440317	NM_001379029.1(CERT1):c.734C>T (p.Ala245Val)	CERT1 (A245V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 2580916	NM_001379029.1(CERT1):c.728G>C (p.Gly243Ala)	CERT1 (G243A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34	GLikely pathogenic
Select item 1306988	NM_001379029.1(CERT1):c.728G>A (p.Gly243Glu)	CERT1 (G243E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3038485	NM_001379029.1(CERT1):c.629C>T (p.Thr210Met)	CERT1 (T210M +1 more)	Single nucleotide variant (missense variant)	CERT1-related condition	GLikely benign
Select item 730217	NM_001379029.1(CERT1):c.596-8T>C	CERT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2581978	NM_001379029.1(CERT1):c.595G>A (p.Val199Met)	CERT1 (V199M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506252	NM_001379029.1(CERT1):c.554G>T (p.Cys185Phe)	CERT1 (C185F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1305320	NM_001379029.1(CERT1):c.514T>C (p.Cys172Arg)	CERT1 (C172R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 977354	NM_001379029.1(CERT1):c.496A>G (p.Thr166Ala)	CERT1 (T166A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GLikely pathogenic
Select item 451094	NM_001379029.1(CERT1):c.475G>A (p.Glu159Lys)	CERT1 (E287K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 717877	NM_001379029.1(CERT1):c.473G>A (p.Arg158His)	CERT1 (R158H +1 more)	Single nucleotide variant (missense variant)	CERT1-related condition +1 more	GBenign/Likely benign
Select item 789475	NM_001379029.1(CERT1):c.450A>G (p.Ser150=)	CERT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 996805	NM_001379029.1(CERT1):c.413C>T (p.Ser138Phe)	CERT1 (S138F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 723583	NM_001379029.1(CERT1):c.408G>A (p.Leu136=)	CERT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 985122	NM_001379029.1(CERT1):c.404C>T (p.Ser135Phe)	CERT1 (S135F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2523285	NM_001379029.1(CERT1):c.397A>G (p.Met133Val)	CERT1 (M261V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 419654	NM_001379029.1(CERT1):c.395C>T (p.Ser132Leu)	CERT1 (S260L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 452039	NM_001379029.1(CERT1):c.394T>C (p.Ser132Pro)	CERT1 (S260P +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2580720	NM_001379029.1(CERT1):c.386G>A (p.Arg129Gln)	CERT1 (R129Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 377275	NM_001379029.1(CERT1):c.370G>C (p.Glu124Gln)	CERT1 (E252Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 801357	NM_001379029.1(CERT1):c.349-3dup	CERT1	Duplication (intron variant)	Intellectual disability, autosomal dominant 34	GLikely benign
Select item 2655539	NM_001379029.1(CERT1):c.326T>C (p.Ile109Thr)	CERT1 (I109T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662268	NM_001379029.1(CERT1):c.287A>G (p.Tyr96Cys)	CERT1 (Y224C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439923	NM_001379029.1(CERT1):c.238G>A (p.Asp80Asn)	CERT1 (D208N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 384775	NM_001379029.1(CERT1):c.170C>A (p.Ser57Tyr)	CERT1 (S185Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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