17644[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 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 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 59770	GRCh38/hg38 8p21.3(chr8:21654619-23001935)x3	BIN3, BIN3-IT1 +119 more	Copy number gain	See cases	GPathogenic
Select item 2619202	NM_018068.5(PIWIL2):c.29G>A (p.Gly10Asp)	PIWIL2 (G10D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401576	NM_018068.5(PIWIL2):c.91G>A (p.Ala31Thr)	PIWIL2 (A31T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331297	NM_018068.5(PIWIL2):c.100C>A (p.Pro34Thr)	PIWIL2 (P34T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305118	NM_018068.5(PIWIL2):c.143G>C (p.Gly48Ala)	PIWIL2 (G48A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213342	NM_018068.5(PIWIL2):c.191C>T (p.Ala64Val)	PIWIL2 (A64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213345	NM_018068.5(PIWIL2):c.208G>T (p.Gly70Cys)	PIWIL2 (G70C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213348	NM_018068.5(PIWIL2):c.227G>A (p.Arg76Gln)	PIWIL2 (R76Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213350	NM_018068.5(PIWIL2):c.308G>T (p.Gly103Val)	PIWIL2 (G103V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366894	NM_018068.5(PIWIL2):c.328C>T (p.Arg110Cys)	PIWIL2 (R110C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460385	NM_018068.5(PIWIL2):c.329G>A (p.Arg110His)	PIWIL2 (R110H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2541220	NM_018068.5(PIWIL2):c.339G>C (p.Arg113Ser)	PIWIL2 (R113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216933	NM_018068.5(PIWIL2):c.380C>T (p.Ala127Val)	PIWIL2 (A127V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294482	NM_018068.5(PIWIL2):c.388G>T (p.Asp130Tyr)	PIWIL2 (D130Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522081	NM_018068.5(PIWIL2):c.397A>G (p.Met133Val)	PIWIL2 (M133V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388588	NM_018068.5(PIWIL2):c.428C>T (p.Thr143Met)	PIWIL2 (T143M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2455160	NM_018068.5(PIWIL2):c.452C>T (p.Ala151Val)	PIWIL2 (A151V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2615323	NM_018068.5(PIWIL2):c.526A>G (p.Thr176Ala)	PIWIL2 (T176A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2410424	NM_018068.5(PIWIL2):c.536G>A (p.Arg179Gln)	PIWIL2 (R179Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338438	NM_018068.5(PIWIL2):c.571C>T (p.Pro191Ser)	PIWIL2 (P191S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341110	NM_018068.5(PIWIL2):c.581C>G (p.Pro194Arg)	PIWIL2 (P194R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264992	NM_018068.5(PIWIL2):c.590C>T (p.Ser197Phe)	PIWIL2 (S197F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306763	NM_018068.5(PIWIL2):c.595G>A (p.Asp199Asn)	PIWIL2 (D199N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392851	NM_018068.5(PIWIL2):c.599G>A (p.Arg200His)	PIWIL2 (R200H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2600711	NM_018068.5(PIWIL2):c.613A>C (p.Thr205Pro)	PIWIL2 (T205P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213352	NM_018068.5(PIWIL2):c.765C>A (p.Ser255Arg)	PIWIL2 (S255R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024490	NM_018068.5(PIWIL2):c.839A>C (p.Tyr280Ser)	PIWIL2 (Y280S)	Single nucleotide variant (missense variant)	Male infertility	GUncertain significance
Select item 3213353	NM_018068.5(PIWIL2):c.920A>G (p.Gln307Arg)	PIWIL2 (Q307R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213354	NM_018068.5(PIWIL2):c.939G>T (p.Glu313Asp)	PIWIL2 (E313D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213355	NM_018068.5(PIWIL2):c.941C>A (p.Pro314His)	PIWIL2 (P314H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306765	NM_018068.5(PIWIL2):c.1031A>G (p.Tyr344Cys)	PIWIL2 (Y344C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279123	NM_018068.5(PIWIL2):c.1065C>G (p.His355Gln)	PIWIL2 (H355Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306762	NM_018068.5(PIWIL2):c.1066A>G (p.Arg356Gly)	PIWIL2 (R356G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259020	NM_018068.5(PIWIL2):c.1198C>G (p.Gln400Glu)	PIWIL2 (Q400E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306768	NM_018068.5(PIWIL2):c.1220A>C (p.Asp407Ala)	PIWIL2 (D407A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384388	NM_018068.5(PIWIL2):c.1223A>G (p.Glu408Gly)	PIWIL2 (E408G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487614	NM_018068.5(PIWIL2):c.1241T>C (p.Val414Ala)	PIWIL2 (V414A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240600	NM_018068.5(PIWIL2):c.1265A>G (p.Tyr422Cys)	PIWIL2 (Y422C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302037	NM_018068.5(PIWIL2):c.1270A>G (p.Asn424Asp)	PIWIL2 (N424D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457686	NM_018068.5(PIWIL2):c.1274G>A (p.Arg425His)	PIWIL2 (R425H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310100	NM_018068.5(PIWIL2):c.1282C>T (p.Arg428Cys)	PIWIL2 (R428C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262979	NM_018068.5(PIWIL2):c.1378T>C (p.Tyr460His)	PIWIL2 (Y460H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213335	NM_018068.5(PIWIL2):c.1462A>G (p.Lys488Glu)	PIWIL2 (K488E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592876	NM_018068.5(PIWIL2):c.1483C>T (p.Pro495Ser)	PIWIL2 (P495S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306767	NM_018068.5(PIWIL2):c.1592C>G (p.Ala531Gly)	PIWIL2 (A531G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213336	NM_018068.5(PIWIL2):c.1615A>C (p.Ile539Leu)	PIWIL2 (I539L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213338	NM_018068.5(PIWIL2):c.1637C>G (p.Thr546Ser)	PIWIL2 (T546S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2485705	NM_018068.5(PIWIL2):c.1652G>A (p.Arg551His)	PIWIL2 (R551H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213339	NM_018068.5(PIWIL2):c.1663C>A (p.Arg555Ser)	PIWIL2 (R555S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547475	NM_018068.5(PIWIL2):c.1664G>A (p.Arg555His)	PIWIL2 (R555H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658465	NM_018068.5(PIWIL2):c.1678G>A (p.Val560Ile)	PIWIL2 (V560I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2658466	NM_018068.5(PIWIL2):c.1688T>C (p.Ile563Thr)	PIWIL2 (I563T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024491	NM_018068.5(PIWIL2):c.1697G>A (p.Arg566His)	PIWIL2 (R566H)	Single nucleotide variant (missense variant)	Male infertility	GUncertain significance
Select item 2491388	NM_018068.5(PIWIL2):c.1697G>T (p.Arg566Leu)	PIWIL2 (R566L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320794	NM_018068.5(PIWIL2):c.1844T>G (p.Met615Arg)	PIWIL2 (M615R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213340	NM_018068.5(PIWIL2):c.1870A>G (p.Met624Val)	PIWIL2 (M624V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213341	NM_018068.5(PIWIL2):c.1904G>A (p.Arg635His)	PIWIL2 (R635H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3213343	NM_018068.5(PIWIL2):c.1961G>A (p.Arg654Lys)	PIWIL2 (R654K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299059	NM_018068.5(PIWIL2):c.2123C>T (p.Thr708Ile)	PIWIL2 (T708I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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