ClinVar for Gene (Select 379025) - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3220346	NM_002788.4(PSMA3):c.667G>A (p.Gly223Arg)	PSMA3, PSMA3-AS1 (G216R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3006115	NM_002788.4(PSMA3):c.591-10del	PSMA3, PSMA3-AS1	Deletion (intron variant)	not provided	GBenign
Select item 3002036	NM_002788.4(PSMA3):c.724-9T>C	PSMA3, PSMA3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981789	NM_002788.4(PSMA3):c.724-10C>G	PSMA3, PSMA3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974579	NM_002788.4(PSMA3):c.723+7C>T	PSMA3, PSMA3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963370	NM_002788.4(PSMA3):c.609C>T (p.Asp203=)	PSMA3, PSMA3-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2960349	NM_002788.4(PSMA3):c.738AGA[1] (p.Glu247del)	PSMA3, PSMA3-AS1 (E240del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2957092	NM_002788.4(PSMA3):c.550G>C (p.Glu184Gln)	PSMA3, PSMA3-AS1 (E184Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2880729	NM_002788.4(PSMA3):c.729T>G (p.Ser243=)	PSMA3, PSMA3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2873976	NM_002788.4(PSMA3):c.659-15T>G	PSMA3, PSMA3-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2869093	NM_002788.4(PSMA3):c.544-4A>G	PSMA3, PSMA3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807864	NM_002788.4(PSMA3):c.570C>A (p.Ile190=)	PSMA3, PSMA3-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2804879	NM_002788.4(PSMA3):c.765G>T (p.Met255Ile)	PSMA3, PSMA3-AS1 (M248I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2796580	NM_002788.4(PSMA3):c.610G>A (p.Glu204Lys)	PSMA3, PSMA3-AS1 (E197K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2795244	NM_002788.4(PSMA3):c.695T>G (p.Ile232Arg)	PSMA3, PSMA3-AS1 (I232R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2791923	NM_002788.4(PSMA3):c.656A>G (p.Glu219Gly)	PSMA3, PSMA3-AS1 (E212G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2785549	NM_002788.4(PSMA3):c.571G>A (p.Val191Ile)	PSMA3, PSMA3-AS1 (V184I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2754057	NM_002788.4(PSMA3):c.658+12T>C	PSMA3, PSMA3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2747154	NM_002788.4(PSMA3):c.544-6C>G	PSMA3, PSMA3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2726162	NM_002788.4(PSMA3):c.751GAT[2] (p.Asp253del)	PSMA3, PSMA3-AS1 (D253del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2708229	NM_002788.4(PSMA3):c.590+6T>G	PSMA3, PSMA3-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2672560	NM_002788.4(PSMA3):c.562C>T (p.Arg188Cys)	PSMA3, PSMA3-AS1 (R181C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2628107	NM_002788.4(PSMA3):c.723+50A>T	PSMA3, PSMA3-AS1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2420052	NM_002788.4(PSMA3):c.568A>G (p.Ile190Val)	PSMA3, PSMA3-AS1 (I183V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2114250	NM_002788.4(PSMA3):c.591-16C>G	PSMA3, PSMA3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2108244	NM_002788.4(PSMA3):c.723+4A>T	PSMA3, PSMA3-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2084687	NM_002788.4(PSMA3):c.659-3C>T	PSMA3, PSMA3-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2080249	NM_002788.4(PSMA3):c.694A>T (p.Ile232Leu)	PSMA3, PSMA3-AS1 (I225L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2001805	NM_002788.4(PSMA3):c.724-15G>C	PSMA3, PSMA3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1965321	NM_002788.4(PSMA3):c.760A>C (p.Asn254His)	PSMA3, PSMA3-AS1 (N254H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1953866	NM_002788.4(PSMA3):c.591-17del	PSMA3, PSMA3-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1943262	NM_002788.4(PSMA3):c.625G>A (p.Ala209Thr)	PSMA3, PSMA3-AS1 (A202T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1930153	NM_002788.4(PSMA3):c.659-5T>C	PSMA3, PSMA3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1922802	NM_002788.4(PSMA3):c.563G>A (p.Arg188His)	PSMA3, PSMA3-AS1 (R181H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1912100	NM_002788.4(PSMA3):c.590T>C (p.Ile197Thr)	PSMA3, PSMA3-AS1 (I190T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1905983	NM_002788.4(PSMA3):c.723+9C>T	PSMA3, PSMA3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1718593	NM_002788.4(PSMA3):c.707C>T (p.Ala236Val)	PSMA3, PSMA3-AS1 (A229V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1674990	NM_002788.4(PSMA3):c.544-20A>G	PSMA3, PSMA3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1614807	NM_002788.4(PSMA3):c.726A>G (p.Glu242=)	PSMA3, PSMA3-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1592673	NM_002788.4(PSMA3):c.570C>T (p.Ile190=)	PSMA3, PSMA3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1592246	NM_002788.4(PSMA3):c.724-7_724-6del	PSMA3, PSMA3-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1569008	NM_002788.4(PSMA3):c.723+13A>C	PSMA3, PSMA3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1564311	NM_002788.4(PSMA3):c.591-7A>G	PSMA3, PSMA3-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1549467	NM_002788.4(PSMA3):c.615T>C (p.Val205=)	PSMA3, PSMA3-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1548475	NM_002788.4(PSMA3):c.659-17T>A	PSMA3, PSMA3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1536941	NM_002788.4(PSMA3):c.658+18A>G	PSMA3, PSMA3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1523750	NM_002788.4(PSMA3):c.596A>G (p.Tyr199Cys)	PSMA3, PSMA3-AS1 (Y192C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1509597	NM_002788.4(PSMA3):c.659-10T>G	PSMA3, PSMA3-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1502298	NM_002788.4(PSMA3):c.599T>C (p.Ile200Thr)	PSMA3, PSMA3-AS1 (I193T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1464833	NM_002788.4(PSMA3):c.614T>A (p.Val205Asp)	PSMA3, PSMA3-AS1 (V198D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1443450	NM_002788.4(PSMA3):c.598A>G (p.Ile200Val)	PSMA3, PSMA3-AS1 (I200V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1397590	NM_002788.4(PSMA3):c.544-3T>C	PSMA3, PSMA3-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1382060	NM_002788.4(PSMA3):c.590+6T>C	PSMA3, PSMA3-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1378828	NM_002788.4(PSMA3):c.726A>C (p.Glu242Asp)	PSMA3, PSMA3-AS1 (E235D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1376643	NM_002788.4(PSMA3):c.659-18A>G	PSMA3, PSMA3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1356801	NM_002788.4(PSMA3):c.704A>C (p.Glu235Ala)	PSMA3, PSMA3-AS1 (E235A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1353276	NM_002788.4(PSMA3):c.694A>G (p.Ile232Val)	PSMA3, PSMA3-AS1 (I225V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1351834	NM_002788.4(PSMA3):c.724-10_724-6del	PSMA3, PSMA3-AS1	Deletion (intron variant)	not provided	GUncertain significance
Select item 1053903	NM_002788.4(PSMA3):c.724-3C>T	PSMA3, PSMA3-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1017428	NM_002788.4(PSMA3):c.741A>T (p.Glu247Asp)	PSMA3, PSMA3-AS1 (E240D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 548993	NM_002788.4(PSMA3):c.697_699del (p.Arg233del)	PSMA3-AS1, PSMA3 (R233del +1 more)	Deletion (inframe_deletion +1 more)	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC	GPathogenic
Select item 155360	GRCh38/hg38 14q23.1(chr14:58288658-58509423)x1	ARID4A, KIAA0586 +12 more	Copy number loss	See cases	GUncertain significance
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	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 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	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 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 67