23286[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 148094	GRCh38/hg38 5q34-35.1(chr5:168234662-169027391)x3	FBLL1, LOC123575611 +30 more	Copy number gain	See cases	GUncertain significance
Select item 2656034	NM_015238.3(WWC1):c.-6G>A	LOC129995211, WWC1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2656035	NM_015238.3(WWC1):c.-5G>A	LOC129995211, WWC1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2387325	NM_015238.3(WWC1):c.20C>G (p.Pro7Arg)	LOC129995211, WWC1 (P7R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190862	NM_015238.3(WWC1):c.47G>A (p.Arg16His)	LOC129995211, WWC1 (R16H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534742	NM_015238.3(WWC1):c.86A>G (p.Asn29Ser)	LOC129995211, WWC1 (N29S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2267984	NM_015238.3(WWC1):c.107A>G (p.Asp36Gly)	LOC129995211, WWC1 (D36G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333298	NM_015238.3(WWC1):c.268C>T (p.Arg90Trp)	WWC1 (R90W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190860	NM_015238.3(WWC1):c.269G>A (p.Arg90Gln)	WWC1 (R90Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492581	NM_015238.3(WWC1):c.623G>C (p.Ser208Thr)	WWC1 (S208T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266347	NM_015238.3(WWC1):c.682A>C (p.Ile228Leu)	WWC1 (I228L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603187	NM_015238.3(WWC1):c.722G>A (p.Ser241Asn)	WWC1 (S241N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204834	NM_015238.3(WWC1):c.730A>G (p.Met244Val)	WWC1 (M244V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190863	NM_015238.3(WWC1):c.742G>A (p.Gly248Ser)	WWC1 (G248S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1245599	NM_015238.3(WWC1):c.748C>T (p.Arg250Cys)	WWC1 (R250C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 732367	NM_015238.3(WWC1):c.838G>A (p.Val280Met)	WWC1 (V280M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3190864	NM_015238.3(WWC1):c.889C>A (p.Gln297Lys)	LOC126807584, WWC1 (Q297K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239154	NM_015238.3(WWC1):c.950A>T (p.Asn317Ile)	WWC1 (N317I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 751795	NM_015238.3(WWC1):c.1002G>T (p.Leu334=)	WWC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2491169	NM_015238.3(WWC1):c.1034A>T (p.Asn345Ile)	WWC1 (N345I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217746	NM_015238.3(WWC1):c.1073G>T (p.Ser358Ile)	WWC1 (S358I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190852	NM_015238.3(WWC1):c.1106A>G (p.Gln369Arg)	WWC1 (Q369R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790569	NM_015238.3(WWC1):c.1153C>A (p.Arg385=)	WWC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3333303	NM_015238.3(WWC1):c.1158C>A (p.Asp386Glu)	WWC1 (D386E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1213	NM_015238.3(WWC1):c.1185-3222C>T	WWC1	Single nucleotide variant (intron variant)	Memory quantitative trait locus	Gassociation
Select item 2656036	NM_015238.3(WWC1):c.1221A>G (p.Arg407=)	WWC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2224806	NM_015238.3(WWC1):c.1300T>A (p.Ser434Thr)	WWC1 (S434T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 756633	NM_015238.3(WWC1):c.1471G>A (p.Gly491Ser)	WWC1 (G491S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2514906	NM_015238.3(WWC1):c.1477C>T (p.Arg493Trp)	WWC1 (R493W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050581	NM_015238.3(WWC1):c.1490G>A (p.Cys497Tyr)	WWC1 (C497Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2236607	NM_015238.3(WWC1):c.1529A>C (p.Gln510Pro)	WWC1 (Q510P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190853	NM_015238.3(WWC1):c.1549C>T (p.Arg517Cys)	WWC1 (R517C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656037	NM_015238.3(WWC1):c.1614C>T (p.Ser538=)	WWC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3333301	NM_015238.3(WWC1):c.1747A>G (p.Asn583Asp)	WWC1 (N583D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381580	NM_015238.3(WWC1):c.1753G>A (p.Ala585Thr)	WWC1 (A585T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2560416	NM_015238.3(WWC1):c.1760A>G (p.Glu587Gly)	WWC1 (E587G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386966	NM_015238.3(WWC1):c.1768C>T (p.Arg590Trp)	WWC1 (R590W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340535	NM_015238.3(WWC1):c.1769G>A (p.Arg590Gln)	WWC1 (R590Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190854	NM_015238.3(WWC1):c.1864G>A (p.Val622Ile)	WWC1 (V622I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771387	NM_015238.3(WWC1):c.1902C>T (p.Tyr634=)	WWC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 91990	NM_015238.3(WWC1):c.1906G>A (p.Ala636Thr)	WWC1 (A636T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3333304	NM_015238.3(WWC1):c.1907C>T (p.Ala636Val)	WWC1 (A636V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710265	NM_015238.3(WWC1):c.1911C>T (p.Ser637=)	WWC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3190855	NM_015238.3(WWC1):c.1976C>T (p.Ala659Val)	WWC1 (A659V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333302	NM_015238.3(WWC1):c.2077G>C (p.Asp693His)	WWC1 (D693H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483944	NM_015238.3(WWC1):c.2096G>A (p.Arg699His)	WWC1 (R699H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592536	NM_015238.3(WWC1):c.2150C>G (p.Pro717Arg)	WWC1 (P717R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522315	NM_015238.3(WWC1):c.2182G>A (p.Glu728Lys)	WWC1 (E728K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403611	NM_015238.3(WWC1):c.2280+14CTGG[10]	WWC1	Microsatellite (intron variant)	not specified	GBenign
Select item 152349	GRCh38/hg38 5q34-35.1(chr5:168433412-171417179)x1	C5orf58, DOCK2 +84 more	Copy number loss	See cases	GUncertain significance
Select item 2210608	NM_015238.3(WWC1):c.2314C>T (p.Arg772Trp)	WWC1 (R772W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515306	NM_015238.3(WWC1):c.2315G>A (p.Arg772Gln)	WWC1 (R772Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246692	NM_015238.3(WWC1):c.2336G>A (p.Arg779His)	WWC1 (R779H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532680	NM_015238.3(WWC1):c.2353A>G (p.Ser785Gly)	WWC1 (S785G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268356	NM_015238.3(WWC1):c.2357A>G (p.Tyr786Cys)	WWC1 (Y786C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190857	NM_015238.3(WWC1):c.2362T>C (p.Tyr788His)	WWC1 (Y788H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384417	NM_015238.3(WWC1):c.2370G>T (p.Lys790Asn)	WWC1 (K790N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381136	NM_015238.3(WWC1):c.2410C>T (p.Pro804Ser)	WWC1 (P804S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248669	NM_015238.3(WWC1):c.2419G>A (p.Gly807Arg)	WWC1 (G807R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393072	NM_015238.3(WWC1):c.2432C>T (p.Thr811Met)	WWC1 (T811M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590663	NM_015238.3(WWC1):c.2437G>T (p.Ala813Ser)	WWC1 (A813S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485974	NM_015238.3(WWC1):c.2524T>A (p.Trp842Arg)	WWC1 (W842R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656038	NM_015238.3(WWC1):c.2550T>C (p.Asn850=)	WWC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2220080	NM_015238.3(WWC1):c.2555C>T (p.Ala852Val)	WWC1 (A852V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593782	NM_015238.3(WWC1):c.2563G>A (p.Glu855Lys)	WWC1 (E855K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333297	NM_015238.3(WWC1):c.2617G>A (p.Glu873Lys)	WWC1 (E873K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190858	NM_015238.3(WWC1):c.2630C>A (p.Pro877His)	WWC1 (P877H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333296	NM_015238.3(WWC1):c.2684C>A (p.Thr895Asn)	WWC1 (T895N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190859	NM_015238.3(WWC1):c.2690C>G (p.Ala897Gly)	WWC1 (A897G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347341	NM_015238.3(WWC1):c.2723G>A (p.Arg908Gln)	WWC1 (R908Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235872	NM_015238.3(WWC1):c.2805G>C (p.Gln935His)	WWC1 (Q935H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2605411	NM_015238.3(WWC1):c.2807G>A (p.Ser936Asn)	WWC1 (S936N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485271	NM_015238.3(WWC1):c.2815G>A (p.Val939Met)	WWC1 (V939M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535604	NM_015238.3(WWC1):c.2822G>A (p.Arg941Gln)	WWC1 (R941Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462669	NM_015238.3(WWC1):c.2938C>T (p.Arg980Cys)	WWC1 (R980C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387965	NM_015238.3(WWC1):c.2939G>A (p.Arg980His)	WWC1 (R980H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354659	NM_015238.3(WWC1):c.2944G>A (p.Glu982Lys)	WWC1 (E982K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389841	NM_015238.3(WWC1):c.2947C>T (p.Arg983Cys)	WWC1 (R989C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396434	NM_015238.3(WWC1):c.2954T>C (p.Ile985Thr)	WWC1 (I985T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390092	NM_015238.3(WWC1):c.3115C>T (p.Arg1039Cys)	WWC1 (R1045C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385815	NM_015238.3(WWC1):c.3116G>A (p.Arg1039His)	WWC1 (R1039H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190861	NM_015238.3(WWC1):c.3153G>A (p.Gln1051=)	WWC1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3062853	GRCh37/hg19 5q34-35.1(chr5:167580162-168867423)x1	MIR103A1, PANK3 +4 more	Copy number loss	not specified	GUncertain significance
Select item 3062837	GRCh37/hg19 5q34-35.1(chr5:165763259-170909410)x1	C5orf58, DOCK2 +18 more	Copy number loss	not specified	GPathogenic
Select item 2685182	GRCh37/hg19 5q34(chr5:163825772-168355129)x1	MIR103A1, PANK3 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2684435	GRCh37/hg19 5q34(chr5:167244760-167992937)x3	MIR103A1, PANK3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2425244	NC_000005.9:g.(?_167849013)_(169661202_?)del	C5orf58, DOCK2 +8 more	Deletion	DOCK2 deficiency	GPathogenic
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1527205	GRCh37/hg19 5q34-35.1(chr5:164207156-172799124)	ATP6V0E1, BNIP1 +35 more	Copy number loss	not specified	GPathogenic
Select item 980751	GRCh37/hg19 5q34-35.1(chr5:166378793-170174830)x1	C5orf58, DOCK2 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 816610	GRCh37/hg19 5q34(chr5:167397612-167763698)x3	WWC1, TENM2	Copy number gain	not provided	GUncertain significance
Select item 814756	GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1	ADAM19, ADRA1B +51 more	Copy number loss	not provided	GPathogenic
Select item 692223	GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1	SPDL1, TENM2 +37 more	Copy number loss	Atrial septal defect 7	GPathogenic
Select item 684880	GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	C5orf52, ADAM19 +51 more	Copy number gain	not provided	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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