26162[HGNC] - 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	ACAD10, ACADS +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 146315	GRCh38/hg38 12p12.3-12.1(chr12:15840854-22021652)x1	ABCC9, AEBP2 +101 more	Copy number loss	See cases	GPathogenic
Select item 146283	GRCh38/hg38 12p12.3-12.1(chr12:19265334-25482589)x1	ABCC9, AEBP2 +133 more	Copy number loss	See cases	GLikely pathogenic
Select item 58988	GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1	ABCC9, AEBP2 +179 more	Copy number loss	See cases	GPathogenic
Select item 1194082	NC_000012.12:g.21437267G>C	PYROXD1	Single nucleotide variant	not provided	GLikely benign
Select item 1241924	NC_000012.12:g.21437292A>G	PYROXD1	Single nucleotide variant	not provided	GBenign
Select item 1229961	NC_000012.12:g.21437311T>C	PYROXD1	Single nucleotide variant	not provided	GBenign
Select item 1225491	NC_000012.12:g.21437463T>C	PYROXD1	Single nucleotide variant	not provided	GBenign
Select item 1271382	NC_000012.12:g.21437556G>A	LOC130007526, PYROXD1	Single nucleotide variant	not provided	GBenign
Select item 1190155	NC_000012.12:g.21437613A>T	PYROXD1	Single nucleotide variant	not provided	GLikely benign
Select item 1228725	NC_000012.12:g.21437623A>C	LOC130007527, PYROXD1	Single nucleotide variant	not provided	GBenign
Select item 1199668	NM_024854.5(PYROXD1):c.-65C>T	LOC130007527, PYROXD1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1301018	NM_024854.5(PYROXD1):c.-54_-53del	LOC130007527, PYROXD1	Deletion (5 prime UTR variant)	not provided	GLikely benign
Select item 1277227	NM_024854.5(PYROXD1):c.-44T>C	LOC130007527, PYROXD1	Single nucleotide variant (5 prime UTR variant)	Myofibrillar myopathy 8 +1 more	GBenign
Select item 2777094	NM_024854.5(PYROXD1):c.12G>A (p.Ala4=)	LOC130007527, PYROXD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2326474	NM_024854.5(PYROXD1):c.19C>T (p.Pro7Ser)	LOC130007527, PYROXD1 (P7S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307901	NM_024854.5(PYROXD1):c.19C>A (p.Pro7Thr)	LOC130007527, PYROXD1 (P7T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1379899	NM_024854.5(PYROXD1):c.23del (p.Pro8fs)	LOC130007527, PYROXD1 (P8fs)	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1409544	NM_024854.5(PYROXD1):c.22C>G (p.Pro8Ala)	LOC130007527, PYROXD1 (P8A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1473229	NM_024854.5(PYROXD1):c.40G>T (p.Val14Leu)	LOC130007527, PYROXD1 (V14L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1976363	NM_024854.5(PYROXD1):c.52G>A (p.Gly18Ser)	LOC130007527, PYROXD1 (G18S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1555474	NM_024854.5(PYROXD1):c.66C>T (p.Gly22=)	LOC130007527, PYROXD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1421502	NM_024854.5(PYROXD1):c.68T>A (p.Val23Asp)	LOC130007527, PYROXD1 (V23D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1589002	NM_024854.5(PYROXD1):c.82C>A (p.Gln28Lys)	PYROXD1 (Q28K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1979166	NM_024854.5(PYROXD1):c.84+6G>A	PYROXD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2700716	NM_024854.5(PYROXD1):c.84+11G>T	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2055510	NM_024854.5(PYROXD1):c.84+19G>T	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1572924	NM_024854.5(PYROXD1):c.84+19G>A	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253388	NM_024854.5(PYROXD1):c.84+40C>A	PYROXD1	Single nucleotide variant (intron variant)	Myofibrillar myopathy 8 +1 more	GBenign
Select item 1183822	NM_024854.5(PYROXD1):c.84+281G>C	PYROXD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1203918	NM_024854.5(PYROXD1):c.85-295G>C	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265652	NM_024854.5(PYROXD1):c.85-265T>C	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2800043	NM_024854.5(PYROXD1):c.85-20TC[2]	PYROXD1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1935306	NM_024854.5(PYROXD1):c.85-20T>C	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900581	NM_024854.5(PYROXD1):c.85-19C>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1641941	NM_024854.5(PYROXD1):c.93T>C (p.Thr31=)	PYROXD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1430680	NM_024854.5(PYROXD1):c.95A>T (p.His32Leu)	PYROXD1 (H32L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2784432	NM_024854.5(PYROXD1):c.99T>C (p.Phe33=)	PYROXD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3003091	NM_024854.5(PYROXD1):c.101C>T (p.Pro34Leu)	PYROXD1 (P34L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2799050	NM_024854.5(PYROXD1):c.102A>G (p.Pro34=)	PYROXD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2161769	NM_024854.5(PYROXD1):c.104C>G (p.Ser35Trp)	PYROXD1 (S35W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1435084	NM_024854.5(PYROXD1):c.104C>T (p.Ser35Leu)	PYROXD1 (S35L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1444781	NM_024854.5(PYROXD1):c.105G>A (p.Ser35=)	PYROXD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1518531	NM_024854.5(PYROXD1):c.107A>G (p.Glu36Gly)	PYROXD1 (E36G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1994143	NM_024854.5(PYROXD1):c.109G>T (p.Asp37Tyr)	PYROXD1 (D37Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1394717	NM_024854.5(PYROXD1):c.109G>A (p.Asp37Asn)	PYROXD1 (D37N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1355326	NM_024854.5(PYROXD1):c.113T>C (p.Ile38Thr)	PYROXD1 (I38T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2015646	NM_024854.5(PYROXD1):c.127G>C (p.Ala43Pro)	PYROXD1 (A43P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2074705	NM_024854.5(PYROXD1):c.133_135del (p.Pro45del)	PYROXD1 (P45del)	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2104153	NM_024854.5(PYROXD1):c.148G>C (p.Val50Leu)	PYROXD1 (V50L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1706359	NM_024854.5(PYROXD1):c.154A>T (p.Asn52Tyr)	PYROXD1 (N52Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1461631	NM_024854.5(PYROXD1):c.154A>G (p.Asn52Asp)	PYROXD1 (N52D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2412042	NM_024854.5(PYROXD1):c.159C>G (p.Phe53Leu)	PYROXD1 (F53L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1972825	NM_024854.5(PYROXD1):c.159C>T (p.Phe53=)	PYROXD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2763470	NM_024854.5(PYROXD1):c.165+9C>T	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 746289	NM_024854.5(PYROXD1):c.165+12del	PYROXD1	Deletion (intron variant)	not provided	GLikely benign
Select item 1262420	NM_024854.5(PYROXD1):c.165+22G>C	PYROXD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1273804	NM_024854.5(PYROXD1):c.165+143A>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236868	NM_024854.5(PYROXD1):c.165+219del	PYROXD1	Deletion (intron variant)	not provided	GBenign
Select item 1297819	NM_024854.5(PYROXD1):c.166-86G>A	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289390	NM_024854.5(PYROXD1):c.166-17C>T	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1532832	NM_024854.5(PYROXD1):c.166-16T>C	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1584580	NM_024854.5(PYROXD1):c.166-15C>A	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 736407	NM_024854.5(PYROXD1):c.166-10A>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2779886	NM_024854.5(PYROXD1):c.166-6A>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2089646	NM_024854.5(PYROXD1):c.166-3C>A	PYROXD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2122296	NM_024854.5(PYROXD1):c.178T>C (p.Leu60=)	PYROXD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 748386	NM_024854.5(PYROXD1):c.189C>T (p.Phe63=)	PYROXD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2080718	NM_024854.5(PYROXD1):c.190G>A (p.Asp64Asn)	PYROXD1 (D64N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2047173	NM_024854.5(PYROXD1):c.190G>C (p.Asp64His)	PYROXD1 (D64H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2552008	NM_024854.5(PYROXD1):c.193G>A (p.Val65Ile)	PYROXD1 (V65I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2804827	NM_024854.5(PYROXD1):c.199G>T (p.Glu67Ter)	PYROXD1 (E67*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2791934	NM_024854.5(PYROXD1):c.212C>T (p.Thr71Ile)	PYROXD1 (T71I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1473005	NM_024854.5(PYROXD1):c.220G>A (p.Gly74Arg)	PYROXD1 (G3R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1358320	NM_024854.5(PYROXD1):c.226C>T (p.Arg76Cys)	PYROXD1 (R5C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1376398	NM_024854.5(PYROXD1):c.236A>G (p.Asn79Ser)	PYROXD1 (N8S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2712227	NM_024854.5(PYROXD1):c.240T>C (p.Ile80=)	PYROXD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1365921	NM_024854.5(PYROXD1):c.243G>A (p.Lys81=)	PYROXD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1469064	NM_024854.5(PYROXD1):c.247A>G (p.Ile83Val)	PYROXD1 (I83V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1549861	NM_024854.5(PYROXD1):c.258C>T (p.Gly86=)	PYROXD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2043433	NM_024854.5(PYROXD1):c.275G>A (p.Ser92Asn)	PYROXD1 (S92N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2205469	NM_024854.5(PYROXD1):c.279A>C (p.Glu93Asp)	PYROXD1 (E93D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 372278	NM_024854.5(PYROXD1):c.285+1G>A	PYROXD1	Single nucleotide variant (splice donor variant)	Myofibrillar myopathy 8 +1 more	GPathogenic/Likely pathogenic
Select item 2830625	NM_024854.5(PYROXD1):c.285+12G>A	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2694972	NM_024854.5(PYROXD1):c.285+17C>A	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278774	NM_024854.5(PYROXD1):c.285+74C>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1301017	NM_024854.5(PYROXD1):c.285+92C>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280892	NM_024854.5(PYROXD1):c.285+126A>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288703	NM_024854.5(PYROXD1):c.285+301T>C	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203678	NM_024854.5(PYROXD1):c.286-260T>C	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272776	NM_024854.5(PYROXD1):c.286-196del	PYROXD1	Deletion (intron variant)	not provided	GBenign
Select item 1190527	NM_024854.5(PYROXD1):c.286-60A>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842478	NM_024854.5(PYROXD1):c.286-20A>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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