19093[HGNC] - 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	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC129999940, LOC129999941 +687 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	LOC129999950, LOC129999951 +736 more	Copy number gain	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	XKR5, XKR6 +773 more	Copy number loss	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC126860319, LOC126860320 +696 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 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	LOC130000241, LOC130000242 +934 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	ADAM28, ADAM7 +665 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000074, LOC130000075 +929 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	TNFRSF10A, TNFRSF10A-DT +705 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +870 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	LOC128772328, LOC129389957 +653 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	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788272, LOC113788273 +807 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC130000012, LOC130000013 +857 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000050, LOC130000051 +791 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	ADAM18, ADAM2 +922 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	LOC130000309, LOC130000310 +900 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 3310841	NM_015310.4(PSD3):c.2659G>A (p.Gly887Arg)	PSD3 (G203R +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 3310842	NM_015310.4(PSD3):c.2327A>G (p.Asp776Gly)	PSD3 (D711G +14 more)	Single nucleotide variant (missense variant +1 more)	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 3310839	NM_015310.4(PSD3):c.2228A>C (p.Glu743Ala)	PSD3 (E710A +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 3310845	NM_015310.4(PSD3):c.2041A>G (p.Thr681Ala)	PSD3 (T122A +9 more)	Single nucleotide variant (missense variant +1 more)	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 3310844	NM_015310.4(PSD3):c.1931C>G (p.Ser644Cys)	PSD3 (S110C +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 3310843	NM_015310.4(PSD3):c.1705G>C (p.Glu569Gln)	PSD3 (E568Q +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

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