PYROXD1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1190155	NC_000012.12:g.21437613A>T	PYROXD1	Single nucleotide variant	not provided	GLikely benign
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)	not provided +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)	not provided +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
Select item 1509805	NM_024854.5(PYROXD1):c.286-11T>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1450352	NM_024854.5(PYROXD1):c.286-7T>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2093994	NM_024854.5(PYROXD1):c.309T>C (p.Asn103=)	PYROXD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2162633	NM_024854.5(PYROXD1):c.315C>T (p.His105=)	PYROXD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1934185	NM_024854.5(PYROXD1):c.315C>A (p.His105Gln)	PYROXD1 (H34Q +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1348836	NM_024854.5(PYROXD1):c.316G>A (p.Val106Ile)	PYROXD1 (V106I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2152470	NM_024854.5(PYROXD1):c.318A>G (p.Val106=)	PYROXD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3150242	NM_024854.5(PYROXD1):c.320A>T (p.Tyr107Phe)	PYROXD1 (Y36F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 806841	NM_024854.5(PYROXD1):c.320A>G (p.Tyr107Cys)	PYROXD1 (Y36C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2498275	NM_024854.5(PYROXD1):c.334_337del (p.Leu112fs)	PYROXD1 (L112fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 1481184	NM_024854.5(PYROXD1):c.335T>C (p.Leu112Pro)	PYROXD1 (L112P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1028346	NM_024854.5(PYROXD1):c.343G>A (p.Gly115Arg)	PYROXD1 (G44R +1 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 8	GUncertain significance
Select item 1558430	NM_024854.5(PYROXD1):c.348T>C (p.Ala116=)	PYROXD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1996062	NM_024854.5(PYROXD1):c.349A>G (p.Lys117Glu)	PYROXD1 (K46E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2222587	NM_024854.5(PYROXD1):c.364T>G (p.Cys122Gly)	PYROXD1 (C51G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1479000	NM_024854.5(PYROXD1):c.364T>C (p.Cys122Arg)	PYROXD1 (C51R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1327287	NM_024854.5(PYROXD1):c.365G>A (p.Cys122Tyr)	PYROXD1 (C122Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1404407	NM_024854.5(PYROXD1):c.367G>A (p.Glu123Lys)	PYROXD1 (E123K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2909673	NM_024854.5(PYROXD1):c.372A>G (p.Gly124=)	PYROXD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1384665	NM_024854.5(PYROXD1):c.387A>T (p.Leu129Phe)	PYROXD1 (L129F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2996584	NM_024854.5(PYROXD1):c.390A>G (p.Gly130=)	PYROXD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1930530	NM_024854.5(PYROXD1):c.391A>G (p.Ile131Val)	PYROXD1 (I131V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1934646	NM_024854.5(PYROXD1):c.394C>T (p.Arg132Cys)	PYROXD1 (R132C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 372281	NM_024854.5(PYROXD1):c.414+1G>A	PYROXD1	Single nucleotide variant (splice donor variant)	Myofibrillar myopathy 8	GPathogenic
Select item 2862323	NM_024854.5(PYROXD1):c.414+14G>T	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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