PSMD1[gene] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC129935871, LOC129935872 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	LOC126806566, LOC126806567 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	AGFG1, ALPG +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	ALPG, ALPI +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC129935973, LOC129935974 +576 more	Copy number gain	See cases	GPathogenic
Select item 2600664	NM_002807.4(PSMD1):c.124G>A (p.Val42Ile)	PSMD1 (V42I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220419	NM_002807.4(PSMD1):c.302T>C (p.Ile101Thr)	PSMD1 (I101T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1251946	NM_002807.4(PSMD1):c.418C>T (p.Arg140Ter)	PSMD1 (R140*)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 2211721	NM_002807.4(PSMD1):c.554T>C (p.Met185Thr)	PSMD1 (M185T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209126	NM_002807.4(PSMD1):c.581G>A (p.Arg194Gln)	PSMD1 (R194Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220420	NM_002807.4(PSMD1):c.587A>T (p.Lys196Ile)	PSMD1 (K196I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2651995	NM_002807.4(PSMD1):c.735A>G (p.Ala245=)	PSMD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2623207	NM_002807.4(PSMD1):c.775C>A (p.Gln259Lys)	PSMD1 (Q259K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518973	NM_002807.4(PSMD1):c.1043C>T (p.Thr348Ile)	PSMD1 (T348I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 789572	NM_002807.4(PSMD1):c.1072-3C>T	PSMD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2208816	NM_002807.4(PSMD1):c.1402G>A (p.Ala468Thr)	PSMD1 (A468T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364746	NM_002807.4(PSMD1):c.1694C>T (p.Ala565Val)	PSMD1 (A565V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555334	NM_000867.5(HTR2B):c.1410A>C (p.Glu470Asp)	HTR2B, PSMD1 (E428D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235061	NM_000867.5(HTR2B):c.1388C>A (p.Thr463Lys)	HTR2B, PSMD1 (T463K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779323	NM_000867.5(HTR2B):c.1314C>T (p.Asn438=)	HTR2B, PSMD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 791235	NM_000867.5(HTR2B):c.1261A>G (p.Met421Val)	HTR2B, PSMD1 (M379V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3107502	NM_000867.5(HTR2B):c.1253G>A (p.Arg418Gln)	HTR2B, PSMD1 (R376Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3107501	NM_000867.5(HTR2B):c.1243A>T (p.Ile415Phe)	HTR2B, PSMD1 (I373F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593268	NM_000867.5(HTR2B):c.1231C>T (p.Arg411Cys)	HTR2B, PSMD1 (R411C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3107509	NM_000867.5(HTR2B):c.985G>T (p.Val329Leu)	HTR2B, PSMD1 (V287L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480448	NM_000867.5(HTR2B):c.954C>G (p.Asn318Lys)	HTR2B, PSMD1 (N318K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238440	NM_000867.5(HTR2B):c.925G>A (p.Gly309Arg)	HTR2B, PSMD1 (G309R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333956	NM_000867.5(HTR2B):c.860C>T (p.Ser287Phe)	HTR2B, PSMD1 (S245F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 725269	NM_000867.5(HTR2B):c.834G>A (p.Pro278=)	HTR2B, PSMD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2323211	NM_000867.5(HTR2B):c.815A>G (p.Glu272Gly)	HTR2B, PSMD1 (E272G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107507	NM_000867.5(HTR2B):c.766C>T (p.Pro256Ser)	HTR2B, PSMD1 (P256S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 430831	NM_000867.5(HTR2B):c.736A>T (p.Lys246Ter)	HTR2B, PSMD1 (K246* +1 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 709655	NM_000867.5(HTR2B):c.622G>T (p.Val208Leu)	PSMD1, HTR2B (V166L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2361287	NM_000867.5(HTR2B):c.505C>T (p.Arg169Trp)	HTR2B, PSMD1 (R127W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 618175	NM_000867.5(HTR2B):c.463A>G (p.Ile155Val)	PSMD1, HTR2B (I155V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3107506	NM_000867.5(HTR2B):c.458G>A (p.Arg153His)	HTR2B, PSMD1 (R111H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107505	NM_000867.5(HTR2B):c.413T>C (p.Phe138Ser)	HTR2B, PSMD1 (F138S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607227	NM_000867.5(HTR2B):c.368T>C (p.Leu123Pro)	HTR2B, PSMD1 (L81P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234133	NM_000867.5(HTR2B):c.364C>A (p.Pro122Thr)	HTR2B, PSMD1 (P80T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606426	NM_000867.5(HTR2B):c.325C>A (p.Pro109Thr)	HTR2B, PSMD1 (P109T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291523	NM_000867.5(HTR2B):c.308T>C (p.Val103Ala)	HTR2B, PSMD1 (V61A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779324	NM_000867.5(HTR2B):c.152G>A (p.Gly51Glu)	HTR2B, PSMD1 (G9E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3107503	NM_000867.5(HTR2B):c.127A>G (p.Met43Val)	HTR2B, PSMD1 (M43V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2536150	NM_000867.5(HTR2B):c.106A>T (p.Thr36Ser)	HTR2B, PSMD1 (T36S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2536149	NM_000867.5(HTR2B):c.105G>C (p.Gln35His)	HTR2B, PSMD1 (Q35H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 791236	NM_000867.5(HTR2B):c.91T>C (p.Trp31Arg)	HTR2B, PSMD1 (W31R)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2391625	NM_000867.5(HTR2B):c.76G>A (p.Val26Ile)	HTR2B, PSMD1 (V26I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2396657	NM_000867.5(HTR2B):c.14A>C (p.Tyr5Ser)	HTR2B, PSMD1 (Y5S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546179	NM_002807.4(PSMD1):c.1886C>G (p.Thr629Ser)	PSMD1 (T629S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220417	NM_002807.4(PSMD1):c.1904G>A (p.Ser635Asn)	PSMD1 (S635N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400876	NM_002807.4(PSMD1):c.1906G>A (p.Val636Ile)	PSMD1 (V636I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248842	NM_002807.4(PSMD1):c.1994A>T (p.Asn665Ile)	PSMD1 (N665I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313605	NM_002807.4(PSMD1):c.2144A>G (p.Lys715Arg)	PSMD1 (K715R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312746	NM_002807.4(PSMD1):c.2215G>A (p.Ala739Thr)	PSMD1 (A739T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2651996	NM_002807.4(PSMD1):c.2219-4A>G	PSMD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 779325	NM_002807.4(PSMD1):c.2436A>G (p.Ala812=)	PSMD1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 779326	NM_002807.4(PSMD1):c.2482-9T>C	PSMD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2528556	NM_002807.4(PSMD1):c.2597A>G (p.Glu866Gly)	PSMD1 (E835G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205949	NM_002807.4(PSMD1):c.2684C>T (p.Pro895Leu)	PSMD1 (P895L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215884	NM_002807.4(PSMD1):c.2722A>G (p.Ile908Val)	PSMD1 (I908V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220418	NM_002807.4(PSMD1):c.2752A>G (p.Ser918Gly)	PSMD1 (S887G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	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 1526959	GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892)	ALPG, ALPI +61 more	Copy number loss	not specified	GPathogenic
Select item 1526955	GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074)	ACSL3, AGFG1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1374168	NC_000002.11:g.(?_231033840)_(234978657_?)dup	ALPG, ALPI +54 more	Duplication	Joubert syndrome 22 +1 more	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 816582	GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3	ACKR3, AGAP1 +119 more	Copy number gain	not provided	GPathogenic
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 446435	GRCh37/hg19 2q36.3-37.1(chr2:230411764-232019784)x1	C2orf72, CAB39 +13 more	Copy number loss	not specified	GUncertain significance
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 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	UGT1A8, UGT1A9 +113 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic

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Items: 85