PSMA3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 149300	GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1	ACTR10, ARID4A +202 more	Copy number loss	See cases	GPathogenic
Select item 57782	GRCh38/hg38 14q23.1(chr14:58146022-61273619)x1	ACTR10, ARID4A +113 more	Copy number loss	See cases	GPathogenic
Select item 2991385	NM_002788.4(PSMA3):c.6C>T (p.Ser2=)	PSMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2013481	NM_002788.4(PSMA3):c.9A>G (p.Ser3=)	PSMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3023948	NM_002788.4(PSMA3):c.15C>T (p.Gly5=)	PSMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2180139	NM_002788.4(PSMA3):c.18T>C (p.Thr6=)	PSMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2701239	NM_002788.4(PSMA3):c.21+12G>C	PSMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655302	NM_002788.4(PSMA3):c.22-14C>T	PSMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894199	NM_002788.4(PSMA3):c.22-7C>T	PSMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2029786	NM_002788.4(PSMA3):c.24T>C (p.Tyr8=)	PSMA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2008426	NM_002788.4(PSMA3):c.35C>T (p.Ala12Val)	PSMA3 (A12V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1548767	NM_002788.4(PSMA3):c.36C>G (p.Ala12=)	PSMA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1652715	NM_002788.4(PSMA3):c.39T>C (p.Ser13=)	PSMA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1562200	NM_002788.4(PSMA3):c.51T>C (p.Pro17=)	PSMA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1555770	NM_002788.4(PSMA3):c.54C>T (p.Asp18=)	PSMA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002023	NM_002788.4(PSMA3):c.82A>G (p.Met28Val)	PSMA3 (M28V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966344	NM_002788.4(PSMA3):c.94G>A (p.Glu32Lys)	PSMA3 (E32K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2728811	NM_002788.4(PSMA3):c.104+11T>C	PSMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006447	NM_002788.4(PSMA3):c.104+15A>G	PSMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2002595	NM_002788.4(PSMA3):c.104+17_104+26del	PSMA3	Deletion (intron variant)	not provided	GLikely benign
Select item 2088626	NM_002788.4(PSMA3):c.105-14_105-12del	PSMA3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1634552	NM_002788.4(PSMA3):c.105-18T>A	PSMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1653110	NM_002788.4(PSMA3):c.105-15T>C	PSMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1641448	NM_002788.4(PSMA3):c.105-11_105-9del	PSMA3	Deletion (intron variant)	not provided	GLikely benign
Select item 1545897	NM_002788.4(PSMA3):c.105-10_105-8del	PSMA3	Deletion (intron variant)	not provided	GLikely benign
Select item 1977476	NM_002788.4(PSMA3):c.127A>G (p.Lys43Glu)	PSMA3 (K43E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1669312	NM_002788.4(PSMA3):c.147G>A (p.Gly49=)	PSMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2114778	NM_002788.4(PSMA3):c.153A>G (p.Glu51=)	PSMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1980189	NM_002788.4(PSMA3):c.165T>C (p.Leu55=)	PSMA3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1400053	NM_002788.4(PSMA3):c.184G>A (p.Gly62Ser)	PSMA3 (G62S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1524590	NM_002788.4(PSMA3):c.185G>T (p.Gly62Val)	PSMA3 (G62V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1165109	NM_002788.4(PSMA3):c.198A>G (p.Arg66=)	PSMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2097286	NM_002788.4(PSMA3):c.206A>G (p.Asn69Ser)	PSMA3 (N69S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2749543	NM_002788.4(PSMA3):c.213T>G (p.Asp71Glu)	PSMA3 (D71E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1387811	NM_002788.4(PSMA3):c.214C>T (p.Arg72Trp)	PSMA3 (R72W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1920959	NM_002788.4(PSMA3):c.221T>C (p.Val74Ala)	PSMA3 (V74A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2054663	NM_002788.4(PSMA3):c.228+6G>T	PSMA3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2149765	NM_002788.4(PSMA3):c.228+7T>A	PSMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1529868	NM_002788.4(PSMA3):c.228+9A>C	PSMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1647900	NM_002788.4(PSMA3):c.228+18A>G	PSMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599975	NM_002788.4(PSMA3):c.229-20A>C	PSMA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1657705	NM_002788.4(PSMA3):c.229-18T>C	PSMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925745	NM_002788.4(PSMA3):c.229-14T>G	PSMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972262	NM_002788.4(PSMA3):c.229-12C>T	PSMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1671143	NM_002788.4(PSMA3):c.229-4dup	PSMA3	Duplication (intron variant)	not provided	GBenign
Select item 2797557	NM_002788.4(PSMA3):c.229-11T>C	PSMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1912353	NM_002788.4(PSMA3):c.229-4del	PSMA3	Deletion (intron variant)	not provided	GBenign
Select item 2986743	NM_002788.4(PSMA3):c.229-4T>C	PSMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1953692	NM_002788.4(PSMA3):c.229-4T>G	PSMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923455	NM_002788.4(PSMA3):c.257G>A (p.Arg86His)	PSMA3 (R86H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2997255	NM_002788.4(PSMA3):c.272T>G (p.Ile91Arg)	PSMA3 (I91R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2884983	NM_002788.4(PSMA3):c.280G>C (p.Glu94Gln)	PSMA3 (E94Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2823810	NM_002788.4(PSMA3):c.306C>T (p.Asn102=)	PSMA3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2415724	NM_002788.4(PSMA3):c.309T>C (p.Phe103=)	PSMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2035669	NM_002788.4(PSMA3):c.312C>A (p.Gly104=)	PSMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2748898	NM_002788.4(PSMA3):c.315C>T (p.Tyr105=)	PSMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2887769	NM_002788.4(PSMA3):c.316A>G (p.Asn106Asp)	PSMA3 (N106D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1365934	NM_002788.4(PSMA3):c.330+4A>G	PSMA3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1633770	NM_002788.4(PSMA3):c.330+12dup	PSMA3	Duplication (intron variant)	not provided	GLikely benign
Select item 2816997	NM_002788.4(PSMA3):c.330+12A>G	PSMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2085761	NM_002788.4(PSMA3):c.330+13C>T	PSMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2834018	NM_002788.4(PSMA3):c.330+15T>C	PSMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1569186	NM_002788.4(PSMA3):c.330+17T>C	PSMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165653	NM_002788.4(PSMA3):c.331-13C>T	PSMA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2989035	NM_002788.4(PSMA3):c.331-9C>T	PSMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1455494	NM_002788.4(PSMA3):c.331-8C>T	PSMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1993089	NM_002788.4(PSMA3):c.338C>T (p.Ala113Val)	PSMA3 (A113V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1672057	NM_002788.4(PSMA3):c.345A>G (p.Arg115=)	PSMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1577540	NM_002788.4(PSMA3):c.348G>A (p.Val116=)	PSMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2964845	NM_002788.4(PSMA3):c.351C>A (p.Ala117=)	PSMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3010371	NM_002788.4(PSMA3):c.357T>C (p.Tyr119=)	PSMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1913649	NM_002788.4(PSMA3):c.364G>A (p.Ala122Thr)	PSMA3 (A122T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2484001	NM_002788.4(PSMA3):c.365C>T (p.Ala122Val)	PSMA3 (A122V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3009173	NM_002788.4(PSMA3):c.366A>G (p.Ala122=)	PSMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2315669	NM_002788.4(PSMA3):c.368A>G (p.Tyr123Cys)	PSMA3 (Y123C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2813482	NM_002788.4(PSMA3):c.374T>A (p.Leu125His)	PSMA3 (L125H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1537814	NM_002788.4(PSMA3):c.387T>C (p.Val129=)	PSMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 548994	NM_002788.4(PSMA3):c.404+2T>C	PSMA3	Single nucleotide variant (splice donor variant)	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC	GPathogenic
Select item 1491672	NM_002788.4(PSMA3):c.404+5G>C	PSMA3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1916368	NM_002788.4(PSMA3):c.404+11T>C	PSMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2628303	NM_002788.4(PSMA3):c.404+101_404+102insTT	PSMA3	Insertion (intron variant)	not specified	GBenign
Select item 1958511	NM_002788.4(PSMA3):c.405-17dup	PSMA3	Duplication (intron variant)	not provided	GLikely benign
Select item 2079225	NM_002788.4(PSMA3):c.405-17T>C	PSMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2113823	NM_002788.4(PSMA3):c.405-6A>G	PSMA3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1571667	NM_002788.4(PSMA3):c.420T>C (p.Ser140=)	PSMA3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2980042	NM_002788.4(PSMA3):c.422A>G (p.Tyr141Cys)	PSMA3 (Y141C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2797848	NM_002788.4(PSMA3):c.423C>T (p.Tyr141=)	PSMA3	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2755379	NM_002788.4(PSMA3):c.424A>C (p.Ser142Arg)	PSMA3 (S142R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1717512	NM_002788.4(PSMA3):c.425G>C (p.Ser142Thr)	PSMA3 (S142T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2977956	NM_002788.4(PSMA3):c.426T>C (p.Ser142=)	PSMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2074616	NM_002788.4(PSMA3):c.431A>G (p.Asn144Ser)	PSMA3 (N137S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1953920	NM_002788.4(PSMA3):c.432T>C (p.Asn144=)	PSMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2968203	NM_002788.4(PSMA3):c.435C>T (p.Asp145=)	PSMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2220845	NM_002788.4(PSMA3):c.436G>A (p.Gly146Ser)	PSMA3 (G139S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1543325	NM_002788.4(PSMA3):c.441G>A (p.Ala147=)	PSMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1425352	NM_002788.4(PSMA3):c.442C>G (p.Gln148Glu)	PSMA3 (Q148E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2865934	NM_002788.4(PSMA3):c.451A>G (p.Met151Val)	PSMA3 (M144V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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