PADI3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	LOC126805640, LOC126805641 +206 more	Copy number loss	See cases	GPathogenic
Select item 3040158	NM_016233.2(PADI3):c.-4C>G	PADI3	Single nucleotide variant (5 prime UTR variant)	PADI3-related disorder	GLikely benign
Select item 3060112	NM_016233.2(PADI3):c.13A>C (p.Arg5=)	PADI3	Single nucleotide variant (synonymous variant)	PADI3-related disorder	GBenign
Select item 3207964	NM_016233.2(PADI3):c.19G>T (p.Val7Leu)	PADI3 (V7L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207968	NM_016233.2(PADI3):c.50C>T (p.Ala17Val)	PADI3 (A17V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207970	NM_016233.2(PADI3):c.74C>A (p.Thr25Asn)	PADI3 (T25N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218900	NM_016233.2(PADI3):c.142G>A (p.Val48Met)	PADI3 (V48M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3059385	NM_016233.2(PADI3):c.154A>G (p.Ile52Val)	PADI3 (I52V)	Single nucleotide variant (missense variant)	PADI3-related disorder	GBenign
Select item 2599335	NM_016233.2(PADI3):c.178C>T (p.Arg60Trp)	PADI3 (R60W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207965	NM_016233.2(PADI3):c.214G>A (p.Ala72Thr)	PADI3 (A72T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604406	NM_016233.2(PADI3):c.295A>G (p.Ser99Gly)	PADI3 (S99G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207966	NM_016233.2(PADI3):c.310C>T (p.Pro104Ser)	PADI3 (P104S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 374868	NM_016233.2(PADI3):c.335T>A (p.Leu112His)	PADI3 (L112H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2312081	NM_016233.2(PADI3):c.378G>T (p.Glu126Asp)	PADI3 (E126D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303915	NM_016233.2(PADI3):c.409C>A (p.Arg137=)	PADI3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2638392	NM_016233.2(PADI3):c.427C>T (p.Pro143Ser)	PADI3 (P143S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2455656	NM_016233.2(PADI3):c.442G>A (p.Gly148Ser)	PADI3 (G148S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382940	NM_016233.2(PADI3):c.504C>A (p.Asp168Glu)	PADI3 (D168E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267236	NM_016233.2(PADI3):c.508C>T (p.His170Tyr)	PADI3 (H170Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3060283	NM_016233.2(PADI3):c.511G>A (p.Val171Met)	PADI3 (V171M)	Single nucleotide variant (missense variant)	PADI3-related disorder	GBenign
Select item 3303918	NM_016233.2(PADI3):c.580T>G (p.Phe194Val)	PADI3 (F194V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207969	NM_016233.2(PADI3):c.595C>A (p.Leu199Ile)	PADI3 (L199I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046034	NM_016233.2(PADI3):c.597T>C (p.Leu199=)	PADI3	Single nucleotide variant (synonymous variant)	PADI3-related disorder	GLikely benign
Select item 599199	NM_016233.2(PADI3):c.628C>T (p.Arg210Trp)	PADI3 (R210W)	Single nucleotide variant (missense variant)	Central centrifugal cicatricial alopecia	GPathogenic
Select item 3048629	NM_016233.2(PADI3):c.651C>T (p.Cys217=)	PADI3	Single nucleotide variant (synonymous variant)	PADI3-related disorder	GLikely benign
Select item 2663501	NM_016233.2(PADI3):c.652G>A (p.Gly218Ser)	PADI3 (G218S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3303919	NM_016233.2(PADI3):c.653G>A (p.Gly218Asp)	PADI3 (G218D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037611	NM_016233.2(PADI3):c.663T>G (p.Asp221Glu)	PADI3 (D221E)	Single nucleotide variant (missense variant)	PADI3-related disorder	GBenign
Select item 2514474	NM_016233.2(PADI3):c.684T>A (p.His228Gln)	PADI3 (H228Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2638393	NM_016233.2(PADI3):c.742C>T (p.Arg248Cys)	PADI3 (R248C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2341984	NM_016233.2(PADI3):c.751G>A (p.Val251Met)	PADI3 (V251M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207971	NM_016233.2(PADI3):c.758G>T (p.Gly253Val)	PADI3 (G253V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213272	NM_016233.2(PADI3):c.758G>C (p.Gly253Ala)	PADI3 (G253A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468961	NM_016233.2(PADI3):c.778G>A (p.Gly260Ser)	PADI3 (G260S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472717	NM_016233.2(PADI3):c.787G>A (p.Gly263Arg)	PADI3 (G263R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268260	NM_016233.2(PADI3):c.827A>G (p.Asn276Ser)	PADI3 (N276S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 599197	NM_016233.2(PADI3):c.832-2A>G	PADI3	Single nucleotide variant (splice acceptor variant)	Central centrifugal cicatricial alopecia	GPathogenic
Select item 3303920	NM_016233.2(PADI3):c.847C>T (p.Pro283Ser)	PADI3 (P283S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 599194	NM_016233.2(PADI3):c.856A>G (p.Thr286Ala)	PADI3 (T286A)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 374867	NM_016233.2(PADI3):c.881C>T (p.Ala294Val)	PADI3 (A294V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2289869	NM_016233.2(PADI3):c.934C>T (p.Arg312Cys)	PADI3 (R312C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511811	NM_016233.2(PADI3):c.991G>A (p.Gly331Ser)	PADI3 (G331S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303912	NM_016233.2(PADI3):c.1027C>T (p.Arg343Cys)	PADI3 (R343C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055748	NM_016233.2(PADI3):c.1029C>T (p.Arg343=)	PADI3	Single nucleotide variant (synonymous variant)	PADI3-related disorder	GBenign
Select item 3303914	NM_016233.2(PADI3):c.1036C>T (p.Arg346Cys)	PADI3 (R346C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1701094	NM_016233.2(PADI3):c.1053G>C (p.Glu351Asp)	PADI3 (E351D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2482924	NM_016233.2(PADI3):c.1061T>C (p.Leu354Pro)	PADI3 (L354P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207948	NM_016233.2(PADI3):c.1076C>T (p.Ala359Val)	PADI3 (A359V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207949	NM_016233.2(PADI3):c.1079C>T (p.Pro360Leu)	PADI3 (P360L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3043944	NM_016233.2(PADI3):c.1110C>T (p.Ser370=)	PADI3	Single nucleotide variant (synonymous variant)	PADI3-related disorder	GBenign
Select item 2334426	NM_016233.2(PADI3):c.1137C>A (p.Phe379Leu)	PADI3 (F379L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239483	NM_016233.2(PADI3):c.1181G>A (p.Arg394Gln)	PADI3 (R394Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2638394	NM_016233.2(PADI3):c.1185A>G (p.Glu395=)	PADI3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2544648	NM_016233.2(PADI3):c.1186C>T (p.Pro396Ser)	PADI3 (P396S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3058546	NM_016233.2(PADI3):c.1189C>T (p.Arg397Cys)	PADI3 (R397C)	Single nucleotide variant (missense variant)	PADI3-related disorder	GLikely benign
Select item 3059201	NM_016233.2(PADI3):c.1191C>T (p.Arg397=)	PADI3	Single nucleotide variant (synonymous variant)	PADI3-related disorder	GBenign
Select item 2600141	NM_016233.2(PADI3):c.1192G>A (p.Asp398Asn)	PADI3 (D398N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335208	NM_016233.2(PADI3):c.1234G>A (p.Val412Ile)	PADI3 (V412I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207950	NM_016233.2(PADI3):c.1256A>G (p.Asn419Ser)	PADI3 (N419S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243223	NM_016233.2(PADI3):c.1259G>A (p.Gly420Glu)	PADI3 (G420E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239842	NM_016233.2(PADI3):c.1289T>C (p.Ile430Thr)	PADI3 (I430T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326180	NM_016233.2(PADI3):c.1292G>A (p.Gly431Glu)	PADI3 (G431E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228903	NM_016233.2(PADI3):c.1295G>A (p.Gly432Asp)	PADI3 (G432D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207951	NM_016233.2(PADI3):c.1339C>T (p.Arg447Trp)	PADI3 (R447W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207952	NM_016233.2(PADI3):c.1340G>T (p.Arg447Leu)	PADI3 (R447L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401383	NM_016233.2(PADI3):c.1369C>T (p.Pro457Ser)	PADI3 (P457S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327500	NM_016233.2(PADI3):c.1375G>A (p.Val459Met)	PADI3 (V459M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310871	NM_016233.2(PADI3):c.1435C>T (p.Pro479Ser)	PADI3 (P479S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304602	NM_016233.2(PADI3):c.1445A>G (p.Asp482Gly)	PADI3 (D482G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3043667	NM_016233.2(PADI3):c.1453-5C>T	PADI3	Single nucleotide variant (intron variant)	PADI3-related disorder	GBenign
Select item 3207953	NM_016233.2(PADI3):c.1459C>T (p.Arg487Trp)	PADI3 (R487W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207954	NM_016233.2(PADI3):c.1460G>A (p.Arg487Gln)	PADI3 (R487Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303913	NM_016233.2(PADI3):c.1469T>A (p.Leu490Gln)	PADI3 (L490Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207955	NM_016233.2(PADI3):c.1525G>A (p.Gly509Arg)	PADI3 (G509R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3058531	NM_016233.2(PADI3):c.1636-7C>T	PADI3	Single nucleotide variant (intron variant)	PADI3-related disorder	GLikely benign
Select item 3207956	NM_016233.2(PADI3):c.1645G>A (p.Asp549Asn)	PADI3 (D549N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475158	NM_016233.2(PADI3):c.1650G>T (p.Trp550Cys)	PADI3 (W550C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303916	NM_016233.2(PADI3):c.1655G>T (p.Arg552Leu)	PADI3 (R552L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295979	NM_016233.2(PADI3):c.1655G>C (p.Arg552Pro)	PADI3 (R552P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207957	NM_016233.2(PADI3):c.1657G>A (p.Glu553Lys)	PADI3 (E553K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 599196	NM_016233.2(PADI3):c.1669C>T (p.Arg557Trp)	PADI3 (R557W)	Single nucleotide variant (missense variant)	Central centrifugal cicatricial alopecia	GPathogenic
Select item 3207958	NM_016233.2(PADI3):c.1706T>A (p.Ile569Asn)	PADI3 (I569N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588792	NM_016233.2(PADI3):c.1742C>T (p.Thr581Met)	PADI3 (T581M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 599195	NM_016233.2(PADI3):c.1744G>A (p.Ala582Thr)	PADI3 (A582T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3207959	NM_016233.2(PADI3):c.1789C>A (p.Leu597Met)	PADI3 (L597M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 374869	NM_016233.2(PADI3):c.1813C>A (p.Pro605Thr)	PADI3 (P605T)	Single nucleotide variant (missense variant)	Uncombable hair syndrome 1	GPathogenic
Select item 2555858	NM_016233.2(PADI3):c.1823A>G (p.Asn608Ser)	PADI3 (N608S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457856	NM_016233.2(PADI3):c.1843G>A (p.Glu615Lys)	PADI3 (E615K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1695750	NM_016233.2(PADI3):c.1852C>T (p.Arg618Trp)	PADI3 (R618W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3303917	NM_016233.2(PADI3):c.1855T>C (p.Ser619Pro)	PADI3 (S619P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3060249	NM_016233.2(PADI3):c.1869G>T (p.Pro623=)	PADI3	Single nucleotide variant (synonymous variant)	PADI3-related disorder	GBenign
Select item 3207960	NM_016233.2(PADI3):c.1885A>G (p.Thr629Ala)	PADI3 (T629A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207961	NM_016233.2(PADI3):c.1906C>G (p.Pro636Ala)	PADI3 (P636A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207962	NM_016233.2(PADI3):c.1933C>T (p.His645Tyr)	PADI3 (H645Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623613	NM_016233.2(PADI3):c.1936T>C (p.Cys646Arg)	PADI3 (C646R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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