PSMD2[gene] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 153971	GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1	ABCC5, ABCC5-AS1 +205 more	Copy number loss	See cases	GLikely pathogenic
Select item 3238952	GRCh38/hg38 3q27.1-27.2(chr3:183020090-185760128)x1	LOC121048724, LOC121048725 +160 more	Copy number loss	Esodeviation +7 more	GPathogenic
Select item 155230	GRCh38/hg38 3q27.1(chr3:183521497-184472038)x1	ABCC5, ABCC5-AS1 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 148845	GRCh38/hg38 3q27.1(chr3:183816693-184365094)x3	ABCC5, ABCC5-AS1 +63 more	Copy number gain	See cases	GUncertain significance
Select item 151178	GRCh38/hg38 3q27.1-27.2(chr3:184010704-186288926)x1	ABCC5, ABCC5-AS1 +126 more	Copy number loss	See cases	GLikely pathogenic
Select item 57995	GRCh38/hg38 3q27.1(chr3:184200139-184656801)x3	ALG3, CAMK2N2 +35 more	Copy number gain	See cases	GPathogenic
Select item 60129	GRCh38/hg38 3q27.1(chr3:184239109-184391437)x1	EIF4G1, FAM131A +26 more	Copy number loss	See cases	GUncertain significance
Select item 147717	GRCh38/hg38 3q27.1(chr3:184242321-184389832)x3	ALG3, CAMK2N2 +24 more	Copy number gain	See cases	GBenign
Select item 2396362	NM_002808.5(PSMD2):c.79A>G (p.Lys27Glu)	PSMD2 (K27E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280539	NM_002808.5(PSMD2):c.87C>A (p.Ser29Arg)	PSMD2 (S29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337396	NM_002808.5(PSMD2):c.110G>A (p.Gly37Glu)	PSMD2 (G37E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220437	NM_002808.5(PSMD2):c.118G>A (p.Asp40Asn)	PSMD2 (D40N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272333	NM_002808.5(PSMD2):c.191G>A (p.Gly64Glu)	PSMD2 (G64E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310994	NM_002808.5(PSMD2):c.247C>T (p.Arg83Cys)	PSMD2 (R83C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551698	NM_002808.5(PSMD2):c.325A>G (p.Ile109Val)	PSMD2 (I109V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517753	NM_002808.5(PSMD2):c.331G>A (p.Glu111Lys)	PSMD2 (E111K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220439	NM_002808.5(PSMD2):c.358C>T (p.Arg120Cys)	PSMD2 (R120C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2363840	NM_002808.5(PSMD2):c.359G>A (p.Arg120His)	PSMD2 (R120H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2269321	NM_002808.5(PSMD2):c.397A>G (p.Met133Val)	PSMD2 (M133V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220440	NM_002808.5(PSMD2):c.616G>T (p.Asp206Tyr)	PSMD2 (D76Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220441	NM_002808.5(PSMD2):c.635A>G (p.Glu212Gly)	PSMD2 (E53G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616076	NM_002808.5(PSMD2):c.668A>T (p.Glu223Val)	PSMD2 (E223V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517790	NM_002808.5(PSMD2):c.679G>A (p.Ala227Thr)	PSMD2 (A97T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387856	NM_002808.5(PSMD2):c.742C>G (p.Leu248Val)	PSMD2 (L118V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556507	NM_002808.5(PSMD2):c.805G>A (p.Ala269Thr)	PSMD2 (A110T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511016	NM_002808.5(PSMD2):c.824T>C (p.Met275Thr)	PSMD2 (M116T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220443	NM_002808.5(PSMD2):c.899G>A (p.Arg300Gln)	PSMD2 (R141Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532176	NM_002808.5(PSMD2):c.1057C>G (p.Leu353Val)	PSMD2 (L353V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281524	NM_002808.5(PSMD2):c.1062G>C (p.Glu354Asp)	PSMD2 (E354D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220436	NM_002808.5(PSMD2):c.1172T>A (p.Leu391Gln)	PSMD2 (L261Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356328	NM_002808.5(PSMD2):c.1234G>T (p.Ala412Ser)	PSMD2 (A282S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462028	NM_002808.5(PSMD2):c.1314C>G (p.Asp438Glu)	PSMD2 (D279E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240256	NM_002808.5(PSMD2):c.1366C>T (p.Arg456Trp)	PSMD2 (R297W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267958	NM_002808.5(PSMD2):c.1572G>A (p.Met524Ile)	PSMD2 (M394I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310992	NM_002808.5(PSMD2):c.1658C>T (p.Thr553Ile)	PSMD2 (T423I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405025	NM_002808.5(PSMD2):c.1930G>A (p.Ala644Thr)	PSMD2 (A485T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376826	NM_002808.5(PSMD2):c.1943C>G (p.Ala648Gly)	PSMD2 (A648G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654315	NM_002808.5(PSMD2):c.2196G>A (p.Val732=)	PSMD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3310993	NM_002808.5(PSMD2):c.2329A>C (p.Thr777Pro)	PSMD2 (T777P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489286	NM_002808.5(PSMD2):c.2353C>T (p.Arg785Trp)	PSMD2 (R626W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410593	NM_002808.5(PSMD2):c.2363T>G (p.Met788Arg)	PSMD2 (M788R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220438	NM_002808.5(PSMD2):c.2446T>C (p.Tyr816His)	PSMD2 (Y686H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213686	NM_002808.5(PSMD2):c.2714A>G (p.Asn905Ser)	PSMD2 (N775S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3062712	GRCh37/hg19 3q26.33-27.2(chr3:179391972-185539073)x1	ABCC5, ABCF3 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062690	GRCh37/hg19 3q27.1-27.2(chr3:183822591-185678620)x3	ABCF3, ALG3 +26 more	Copy number gain	not specified	GUncertain significance
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2425419	NC_000003.11:g.(?_182733226)_(184094097_?)del	CAMK2N2, CLCN2 +26 more	Deletion	ALG3-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 2425112	NC_000003.11:g.(?_183368145)_(184094097_?)del	ABCC5, ABCF3 +21 more	Deletion	not provided	GUncertain significance
Select item 1710512	GRCh37/hg19 3q26.33-27.2(chr3:181062175-185474509)x1	DCUN1D1, ALG3 +41 more	Copy number loss	not provided	GPathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1703654	GRCh37/hg19 3q27.1-28(chr3:183556940-188083060)	ABCC5, ABCF3 +53 more	Copy number loss	Short stature	GPathogenic
Select item 1527063	GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042)	ABCC5, ABCF3 +49 more	Copy number loss	not specified	GPathogenic
Select item 1527061	GRCh37/hg19 3q26.33-27.3(chr3:182189525-187212935)	ABCC5, ABCF3 +59 more	Copy number loss	not specified	GPathogenic
Select item 1328104	GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	ABCC5, ABCF3 +82 more	Copy number gain	not provided	GPathogenic
Select item 986756	GRCh37/hg19 3q26.33-27.2(chr3:181171210-184706091)x1	ECE2, FAM131A +34 more	Copy number loss	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 980554	GRCh37/hg19 3q27.1-27.3(chr3:182877291-186830759)x1	CLCN2, YEATS2 +52 more	Copy number loss	not provided	GPathogenic
Select item 814505	GRCh37/hg19 3q27.1-27.3(chr3:183789584-186034649)x1	DVL3, ALG3 +28 more	Copy number loss	not provided	GLikely pathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 562850	GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3	FYTTD1, FAM43A +103 more	Copy number gain	not provided	GPathogenic
Select item 562848	GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1	KNG1, FETUB +75 more	Copy number loss	not provided	GPathogenic
Select item 562847	GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3	PPP1R2, TBCCD1 +126 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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Items: 81