"Ambry Genetics"[submitter] AND "PSMD1"[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3310980	NM_002807.4(PSMD1):c.266A>G (p.Asn89Ser)	PSMD1 (N89S)	Single nucleotide variant (missense variant)	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 3310981	NM_002807.4(PSMD1):c.485T>C (p.Val162Ala)	PSMD1 (V162A)	Single nucleotide variant (missense variant +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 3310983	NM_002807.4(PSMD1):c.652C>G (p.Gln218Glu)	PSMD1 (Q218E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3310982	NM_002807.4(PSMD1):c.1001C>T (p.Ala334Val)	PSMD1 (A334V)	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 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 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 3285032	NM_000867.5(HTR2B):c.955G>A (p.Glu319Lys)	HTR2B, PSMD1 (E277K +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 3285033	NM_000867.5(HTR2B):c.932A>C (p.Lys311Thr)	HTR2B, PSMD1 (K311T +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 3285034	NM_000867.5(HTR2B):c.857G>C (p.Gly286Ala)	HTR2B, PSMD1 (G286A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3285031	NM_000867.5(HTR2B):c.632A>G (p.Lys211Arg)	HTR2B, PSMD1 (K211R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 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

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Items: 50