ClinVar for Gene (Select 23198) - ClinVar

Links from Gene

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311044	NM_014614.3(PSME4):c.3324A>C (p.Gln1108His)	PSME4 (Q1108H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311043	NM_014614.3(PSME4):c.2200A>G (p.Thr734Ala)	PSME4 (T734A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311042	NM_014614.3(PSME4):c.4336C>A (p.Leu1446Met)	PSME4 (L1446M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311041	NM_014614.3(PSME4):c.1076G>A (p.Arg359Gln)	PSME4 (R359Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311039	NM_014614.3(PSME4):c.345G>T (p.Met115Ile)	PSME4 (M115I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311038	NM_014614.3(PSME4):c.3659A>G (p.Lys1220Arg)	PSME4 (K1220R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311037	NM_014614.3(PSME4):c.5272A>C (p.Lys1758Gln)	PSME4 (K1758Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311036	NM_014614.3(PSME4):c.4019G>A (p.Arg1340Gln)	PSME4 (R1340Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311035	NM_014614.3(PSME4):c.4484C>T (p.Thr1495Ile)	PSME4 (T1495I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311034	NM_014614.3(PSME4):c.2406A>C (p.Lys802Asn)	PSME4 (K802N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311033	NM_014614.3(PSME4):c.47G>A (p.Gly16Asp)	LOC129933730, PSME4 (G16D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311032	NM_014614.3(PSME4):c.2183C>G (p.Thr728Ser)	PSME4 (T728S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311031	NM_014614.3(PSME4):c.943A>G (p.Ile315Val)	PSME4 (I315V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311030	NM_014614.3(PSME4):c.4252G>T (p.Val1418Leu)	PSME4 (V1418L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311028	NM_014614.3(PSME4):c.704T>G (p.Phe235Cys)	PSME4 (F235C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220504	NM_014614.3(PSME4):c.92A>T (p.Glu31Val)	LOC129933730, PSME4 (E31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220501	NM_014614.3(PSME4):c.5003T>C (p.Met1668Thr)	PSME4 (M1668T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220500	NM_014614.3(PSME4):c.4957A>G (p.Ser1653Gly)	PSME4 (S1653G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220499	NM_014614.3(PSME4):c.4693G>T (p.Asp1565Tyr)	PSME4 (D1565Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220498	NM_014614.3(PSME4):c.4188A>T (p.Glu1396Asp)	PSME4 (E1396D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220497	NM_014614.3(PSME4):c.410A>T (p.Asp137Val)	PSME4 (D137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220496	NM_014614.3(PSME4):c.4022G>A (p.Arg1341His)	PSME4 (R1341H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220495	NM_014614.3(PSME4):c.3231T>A (p.Asp1077Glu)	PSME4 (D1077E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220494	NM_014614.3(PSME4):c.3214A>G (p.Ile1072Val)	PSME4 (I1072V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220493	NM_014614.3(PSME4):c.2773A>G (p.Met925Val)	PSME4 (M925V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220492	NM_014614.3(PSME4):c.2393G>A (p.Cys798Tyr)	PSME4 (C798Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220491	NM_014614.3(PSME4):c.2377G>A (p.Val793Ile)	PSME4 (V793I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3220490	NM_014614.3(PSME4):c.2057T>C (p.Val686Ala)	PSME4 (V686A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220489	NM_014614.3(PSME4):c.1892G>A (p.Cys631Tyr)	PSME4 (C631Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220488	NM_014614.3(PSME4):c.1519A>G (p.Ile507Val)	PSME4 (I507V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681504	NM_014614.3(PSME4):c.4281T>C (p.Cys1427=)	PSME4	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2650915	NM_014614.3(PSME4):c.516T>C (p.Ile172=)	PSME4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650914	NM_014614.3(PSME4):c.813T>C (p.Asp271=)	PSME4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650913	NM_014614.3(PSME4):c.2400T>C (p.Asp800=)	PSME4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619606	NM_014614.3(PSME4):c.3781A>G (p.Lys1261Glu)	PSME4 (K1261E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617301	NM_014614.3(PSME4):c.2407C>G (p.Leu803Val)	PSME4 (L803V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609503	NM_014614.3(PSME4):c.4697A>G (p.Glu1566Gly)	PSME4 (E1566G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598795	NM_014614.3(PSME4):c.3829T>C (p.Tyr1277His)	PSME4 (Y1277H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597783	NM_014614.3(PSME4):c.2582G>T (p.Arg861Leu)	PSME4 (R861L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595161	NM_014614.3(PSME4):c.445G>A (p.Val149Ile)	PSME4 (V149I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589139	NM_014614.3(PSME4):c.3766A>G (p.Ile1256Val)	PSME4 (I1256V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552576	NM_014614.3(PSME4):c.343A>T (p.Met115Leu)	PSME4 (M115L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543521	NM_014614.3(PSME4):c.361C>T (p.Arg121Cys)	PSME4 (R121C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538586	NM_014614.3(PSME4):c.4268A>G (p.Asp1423Gly)	PSME4 (D1423G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532805	NM_014614.3(PSME4):c.4199A>C (p.Lys1400Thr)	PSME4 (K1400T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526782	NM_014614.3(PSME4):c.3268A>G (p.Ile1090Val)	PSME4 (I1090V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522015	NM_014614.3(PSME4):c.1849A>G (p.Ile617Val)	PSME4 (I617V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518954	NM_014614.3(PSME4):c.3397C>G (p.Gln1133Glu)	PSME4 (Q1133E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512984	NM_014614.3(PSME4):c.266A>C (p.Lys89Thr)	PSME4 (K89T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494514	NM_014614.3(PSME4):c.3278A>C (p.Asp1093Ala)	PSME4 (D1093A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489913	NM_014614.3(PSME4):c.2215G>A (p.Val739Met)	PSME4 (V739M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481326	NM_014614.3(PSME4):c.590G>A (p.Arg197Gln)	PSME4 (R197Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477305	NM_014614.3(PSME4):c.3865G>A (p.Val1289Met)	PSME4 (V1289M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461397	NM_014614.3(PSME4):c.5268G>T (p.Leu1756Phe)	PSME4 (L1756F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461118	NM_014614.3(PSME4):c.2517A>T (p.Leu839Phe)	PSME4 (L839F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400072	NM_014614.3(PSME4):c.719G>A (p.Gly240Asp)	PSME4 (G240D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394129	NM_014614.3(PSME4):c.568G>A (p.Ala190Thr)	PSME4 (A190T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369380	NM_014614.3(PSME4):c.2287T>G (p.Trp763Gly)	PSME4 (W763G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363590	NM_014614.3(PSME4):c.3592A>G (p.Ile1198Val)	PSME4 (I1198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353889	NM_014614.3(PSME4):c.5036A>G (p.Asn1679Ser)	PSME4 (N1679S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349224	NM_014614.3(PSME4):c.337A>G (p.Ile113Val)	PSME4 (I113V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347777	NM_014614.3(PSME4):c.67C>T (p.Pro23Ser)	LOC129933730, PSME4 (P23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342087	NM_014614.3(PSME4):c.3568G>A (p.Val1190Ile)	PSME4 (V1190I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341686	NM_014614.3(PSME4):c.58G>A (p.Glu20Lys)	LOC129933730, PSME4 (E20K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339175	NM_014614.3(PSME4):c.3677C>T (p.Pro1226Leu)	PSME4 (P1226L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327820	NM_014614.3(PSME4):c.2275C>A (p.Pro759Thr)	PSME4 (P759T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324955	NM_014614.3(PSME4):c.2374C>G (p.Leu792Val)	PSME4 (L792V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322987	NM_014614.3(PSME4):c.127C>G (p.Arg43Gly)	PSME4 (R43G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317665	NM_014614.3(PSME4):c.2621A>C (p.Lys874Thr)	PSME4 (K874T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315842	NM_014614.3(PSME4):c.5398A>G (p.Met1800Val)	PSME4 (M1800V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313436	NM_014614.3(PSME4):c.2723A>G (p.Lys908Arg)	PSME4 (K908R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312747	NM_014614.3(PSME4):c.3458G>C (p.Gly1153Ala)	PSME4 (G1153A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305649	NM_014614.3(PSME4):c.2293C>G (p.Leu765Val)	PSME4 (L765V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301632	NM_014614.3(PSME4):c.5027T>G (p.Phe1676Cys)	PSME4 (F1676C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295864	NM_014614.3(PSME4):c.4545A>G (p.Ile1515Met)	PSME4 (I1515M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295210	NM_014614.3(PSME4):c.47G>C (p.Gly16Ala)	LOC129933730, PSME4 (G16A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291535	NM_014614.3(PSME4):c.974T>C (p.Leu325Pro)	PSME4 (L325P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288497	NM_014614.3(PSME4):c.467A>G (p.Lys156Arg)	PSME4 (K156R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283872	NM_014614.3(PSME4):c.2144C>A (p.Thr715Asn)	PSME4 (T715N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266826	NM_014614.3(PSME4):c.1987G>A (p.Val663Ile)	PSME4 (V663I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248941	NM_014614.3(PSME4):c.3218T>C (p.Val1073Ala)	PSME4 (V1073A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243116	NM_014614.3(PSME4):c.3410C>A (p.Ala1137Asp)	PSME4 (A1137D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224413	NM_014614.3(PSME4):c.3193A>G (p.Met1065Val)	PSME4 (M1065V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 814261	GRCh37/hg19 2p16.2(chr2:54192002-54441179)x3	PSME4, ACYP2	Copy number gain	not provided	GLikely benign
Select item 814260	GRCh37/hg19 2p16.2(chr2:54063171-54808845)x3	TSPYL6, PSME4 +5 more	Copy number gain	not provided	GLikely benign
Select item 689318	GRCh37/hg19 2p16.2(chr2:54174539-54452331)x1	ACYP2, PSME4	Copy number loss	not provided	GUncertain significance
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 562635	GRCh37/hg19 2p16.2-16.1(chr2:54079222-55328518)x3	GPR75, TSPYL6 +7 more	Copy number gain	not provided	GLikely benign
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442274	GRCh37/hg19 2p21-16.2(chr2:47361260-54934153)x1	ACYP2, ASB3 +25 more	Copy number loss	See cases	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 98