PSD3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC129999850, LOC129999851 +1038 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC126860345, LOC126860346 +1103 more	Copy number gain	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	AGPAT5, ANGPT2 +687 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC130000150, LOC130000151 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	ADAM28, ADAM7 +736 more	Copy number gain	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	DMTN, DOK2 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	MIR4660, MIR548H4 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DUSP4, EBF2 +1018 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	ADAM28, ADAM7 +694 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	ADAM18, ADAM2 +935 more	Copy number gain	See cases	GPathogenic
Select item 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC132089588, LOC132089589 +510 more	Copy number loss	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000086, LOC130000087 +932 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	ADAM28, ADAM7 +663 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC121331299, LOC121331300 +868 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	ADAM18, ADAM2 +927 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000305, LOC130000306 +927 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	ADAM28, ADAM7 +703 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC130000069, LOC130000070 +868 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	ADAM18, ADAM2 +816 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000275, LOC130000276 +927 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	ADAM28, ADAM7 +651 more	Copy number gain	See cases	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 147664	GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	ADAM28, ADAM7 +567 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC101929258, LOC101929470 +920 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788273, LOC113788274 +805 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC129999948, LOC129999949 +855 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +920 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000249, LOC130000250 +789 more	Copy number gain	See cases	GPathogenic
Select item 145968	GRCh38/hg38 8p23.1-21.3(chr8:12732530-20436882)x3	ASAH1, ASAH1-AS1 +144 more	Copy number gain	See cases	GPathogenic
Select item 59767	GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	ADAM28, ADAM7 +523 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	TNFRSF10A, TNFRSF10A-DT +920 more	Copy number gain	See cases	GPathogenic
Select item 59768	GRCh38/hg38 8p23.1-21.3(chr8:12787272-20952389)x3	ASAH1, ASAH1-AS1 +140 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	ADAM18, ADAM2 +898 more	Copy number gain	See cases	GPathogenic
Select item 148250	GRCh38/hg38 8p22(chr8:18081979-18646740)x3	ASAH1, ASAH1-AS1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 2343599	NM_015310.4(PSD3):c.3107G>A (p.Arg1036Gln)	PSD3 (R1002Q +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517632	NM_015310.4(PSD3):c.3080G>A (p.Arg1027His)	PSD3 (R1027H +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244550	NM_015310.4(PSD3):c.3050A>C (p.Asp1017Ala)	PSD3 (D483A +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276638	NM_015310.4(PSD3):c.3047C>T (p.Pro1016Leu)	PSD3 (P1016L +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269049	NM_015310.4(PSD3):c.3026A>C (p.His1009Pro)	PSD3 (H1110P +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216953	NM_015310.4(PSD3):c.3023C>T (p.Ser1008Leu)	PSD3 (S978L +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220160	NM_015310.4(PSD3):c.3001G>A (p.Glu1001Lys)	PSD3 (E1001K +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 719443	NM_015310.4(PSD3):c.2862C>T (p.Pro954=)	PSD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2372353	NM_015310.4(PSD3):c.2833G>A (p.Glu945Lys)	PSD3 (E147K +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220159	NM_015310.4(PSD3):c.2823G>T (p.Gln941His)	PSD3 (Q143H +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409581	NM_015310.4(PSD3):c.2794C>A (p.Leu932Met)	PSD3 (L134M +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305768	NM_015310.4(PSD3):c.2755C>G (p.Leu919Val)	PSD3 (L383V +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531599	NM_015310.4(PSD3):c.2746C>T (p.Arg916Cys)	PSD3 (R851C +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335756	NM_015310.4(PSD3):c.2728T>G (p.Ser910Ala)	PSD3 (S374A +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317220	NM_015310.4(PSD3):c.2726G>A (p.Gly909Asp)	PSD3 (G1037D +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220158	NM_015310.4(PSD3):c.2647G>A (p.Glu883Lys)	PSD3 (E849K +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220157	NM_015310.4(PSD3):c.2606C>G (p.Thr869Ser)	PSD3 (T198S +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273679	NM_015310.4(PSD3):c.2590G>A (p.Val864Met)	PSD3 (V66M +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282136	NM_015310.4(PSD3):c.2558C>G (p.Ser853Cys)	PSD3 (S294C +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220156	NM_015310.4(PSD3):c.2489A>C (p.Tyr830Ser)	PSD3 (Y271S +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 149703	GRCh38/hg38 8p22(chr8:18626254-18884550)x1	LOC124153116, LOC126860310 +3 more	Copy number loss	See cases	GUncertain significance
Select item 2629794	NM_015310.4(PSD3):c.2387A>G (p.His796Arg)	PSD3 (H112R +14 more)	Single nucleotide variant (missense variant +1 more)	PSD3-related disorder	GUncertain significance
Select item 2385002	NM_015310.4(PSD3):c.2348C>G (p.Ala783Gly)	PSD3 (A718G +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464275	NM_015310.4(PSD3):c.2326G>A (p.Asp776Asn)	PSD3 (D217N +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374214	NM_015310.4(PSD3):c.2297G>A (p.Arg766His)	PSD3 (R230H +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220155	NM_015310.4(PSD3):c.2255C>G (p.Thr752Ser)	PSD3 (T216S +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 150929	GRCh38/hg38 8p22-21.3(chr8:18727799-19351154)x3	LOC100128993, LOC105379301 +9 more	Copy number gain	See cases	GUncertain significance
Select item 2474948	NM_015310.4(PSD3):c.2161G>T (p.Asp721Tyr)	PSD3 (D162Y +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329079	NM_015310.4(PSD3):c.2125C>G (p.Leu709Val)	PSD3 (L25V +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301803	NM_015310.4(PSD3):c.2120C>A (p.Ala707Glu)	PSD3 (A148E +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225532	NM_015310.4(PSD3):c.2105G>T (p.Cys702Phe)	PSD3 (C637F +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286080	NM_015310.4(PSD3):c.2055G>T (p.Met685Ile)	PSD3 (M151I +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528646	NM_015310.4(PSD3):c.2024A>G (p.Asp675Gly)	PSD3 (D141G +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274466	NM_015310.4(PSD3):c.2014G>A (p.Ala672Thr)	PSD3 (A138T +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514473	NM_015310.4(PSD3):c.2009C>T (p.Thr670Ile)	PSD3 (T669I +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553862	NM_015310.4(PSD3):c.2008A>G (p.Thr670Ala)	PSD3 (T636A +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770569	NM_015310.4(PSD3):c.1925C>A (p.Ala642Glu)	PSD3 (A609E +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2606182	NM_015310.4(PSD3):c.1714G>A (p.Glu572Lys)	PSD3 (E538K +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220153	NM_015310.4(PSD3):c.1712C>A (p.Pro571Gln)	PSD3 (P538Q +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518149	NM_015310.4(PSD3):c.1673C>T (p.Ser558Phe)	PSD3 (S524F +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324997	NM_015310.4(PSD3):c.1657C>T (p.Arg553Trp)	PSD3 (R19W +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776287	NM_015310.4(PSD3):c.1644G>A (p.Gly548=)	PSD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 154026	GRCh38/hg38 8p22-21.3(chr8:18852451-19355561)x3	LOC100128993, LOC105379301 +6 more	Copy number gain	See cases	GUncertain significance
Select item 2233365	NM_015310.4(PSD3):c.1631G>A (p.Gly544Glu)	PSD3 (G544E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726772	NM_015310.4(PSD3):c.1594A>C (p.Ile532Leu)	PSD3 (I532L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3046045	NM_015310.4(PSD3):c.1565C>T (p.Thr522Ile)	PSD3 (T457I +6 more)	Single nucleotide variant (missense variant)	PSD3-related disorder	GLikely benign
Select item 2264425	NM_015310.4(PSD3):c.1388C>T (p.Thr463Ile)	PSD3 (T398I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791164	NM_015310.4(PSD3):c.1261G>T (p.Val421Phe)	PSD3 (V421F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2630850	NM_015310.4(PSD3):c.1241T>A (p.Ile414Asn)	PSD3 (I349N +6 more)	Single nucleotide variant (missense variant)	PSD3-related disorder	GUncertain significance
Select item 2658456	NM_015310.4(PSD3):c.1173A>G (p.Glu391=)	PSD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 776288	NM_015310.4(PSD3):c.1147C>T (p.Arg383Cys)	PSD3 (R350C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777634	NM_015310.4(PSD3):c.1046G>T (p.Gly349Val)	PSD3 (G316V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 774199	NM_015310.4(PSD3):c.1024C>T (p.Arg342Cys)	PSD3 (R309C +1 more)	Single nucleotide variant (missense variant)	PSD3-related disorder +1 more	GLikely benign
Select item 749998	NM_015310.4(PSD3):c.948C>T (p.Thr316=)	PSD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3220161	NM_015310.4(PSD3):c.781C>T (p.His261Tyr)	PSD3 (H227Y +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731606	NM_015310.4(PSD3):c.672C>G (p.Asp224Glu)	PSD3 (D191E +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2387186	NM_015310.4(PSD3):c.635G>T (p.Ser212Ile)	PSD3 (S147I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219827	NM_015310.4(PSD3):c.532C>T (p.Arg178Cys)	PSD3 (R113C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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