COLEC11[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155714	GRCh38/hg38 2p25.3(chr2:12770-4318861)x3	ACP1, ADI1 +104 more	Copy number gain	See cases	GUncertain significance
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 152440	GRCh38/hg38 2p25.3-25.2(chr2:17019-4957745)x3	ACP1, ADI1 +108 more	Copy number gain	See cases	GLikely pathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 154668	GRCh38/hg38 2p25.3-25.2(chr2:30341-4642399)x3	ACP1, ADI1 +107 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 144454	GRCh38/hg38 2p25.3-25.2(chr2:30341-4932359)x3	ACP1, ADI1 +108 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 59132	GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3	LOC129933017, LOC129933018 +237 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 58810	GRCh38/hg38 2p25.3(chr2:2542162-3678127)x3	ADI1, ALLC +44 more	Copy number gain	See cases	GUncertain significance
Select item 149319	GRCh38/hg38 2p25.3-25.2(chr2:2797196-4697562)x3	ADI1, ALLC +55 more	Copy number gain	See cases	GUncertain significance
Select item 58836	GRCh38/hg38 2p25.3(chr2:3293776-3858635)x3	ADI1, ALLC +29 more	Copy number gain	See cases	GUncertain significance
Select item 145551	GRCh38/hg38 2p25.3(chr2:3522147-3849658)x3	ALLC, COLEC11 +18 more	Copy number gain	See cases	GUncertain significance
Select item 191299	NM_024027.5(COLEC11):c.-26-701G>C	COLEC11	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3053588	NM_024027.5(COLEC11):c.-26-679G>A	COLEC11	Single nucleotide variant (5 prime UTR variant +1 more)	COLEC11-related disorder	GLikely benign
Select item 3043473	NM_024027.5(COLEC11):c.-26-670G>A	COLEC11	Single nucleotide variant (5 prime UTR variant +1 more)	COLEC11-related disorder	GLikely benign
Select item 3057546	NM_024027.5(COLEC11):c.-26-646C>T	COLEC11	Single nucleotide variant (intron variant)	COLEC11-related disorder	GLikely benign
Select item 3054516	NM_024027.5(COLEC11):c.-26-645G>A	COLEC11	Single nucleotide variant (intron variant)	COLEC11-related disorder	GLikely benign
Select item 3054253	NM_024027.5(COLEC11):c.-26-5T>C	COLEC11	Single nucleotide variant (intron variant)	COLEC11-related disorder	GLikely benign
Select item 2558058	NM_024027.5(COLEC11):c.10A>C (p.Asn4His)	COLEC11 (N4H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2398987	NM_024027.5(COLEC11):c.11A>G (p.Asn4Ser)	COLEC11 (N4S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 445728	NM_024027.5(COLEC11):c.23T>C (p.Val8Ala)	COLEC11 (V8A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign/Likely benign
Select item 2238429	NM_024027.5(COLEC11):c.26G>T (p.Gly9Val)	COLEC11 (G23V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 992511	NM_024027.5(COLEC11):c.28G>T (p.Val10Phe)	COLEC11 (V10F +1 more)	Single nucleotide variant (missense variant +2 more)	3MC syndrome 2	GUncertain significance
Select item 30969	NM_024027.5(COLEC11):c.45del (p.Phe16fs)	COLEC11 (F16fs +1 more)	Deletion (frameshift variant +2 more)	3MC syndrome 2	GPathogenic
Select item 3068586	NM_024027.5(COLEC11):c.82_94del (p.Ala28fs)	COLEC11 (A28fs +2 more)	Deletion (frameshift variant +2 more)	3MC syndrome	GPathogenic
Select item 2487715	NM_024027.5(COLEC11):c.94G>A (p.Ala32Thr)	COLEC11 (A46T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3147848	NM_024027.5(COLEC11):c.111C>T (p.Ile37=)	COLEC11 (S8F)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3052218	NM_024027.5(COLEC11):c.114C>T (p.Leu38=)	COLEC11 (S9L)	Single nucleotide variant (synonymous variant +2 more)	COLEC11-related disorder	GUncertain significance
Select item 3051137	NM_024027.5(COLEC11):c.130+6C>T	COLEC11	Single nucleotide variant (intron variant)	COLEC11-related disorder	GLikely benign
Select item 1959981	NM_024027.5(COLEC11):c.130+15G>A	COLEC11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3030350	NM_024027.5(COLEC11):c.130+1716T>C	COLEC11	Single nucleotide variant (5 prime UTR variant +1 more)	COLEC11-related disorder	GLikely benign
Select item 3031611	NM_024027.5(COLEC11):c.130+1740A>T	COLEC11 (S7C)	Single nucleotide variant (missense variant +1 more)	COLEC11-related disorder	GUncertain significance
Select item 3341655	NM_024027.5(COLEC11):c.130+1748C>T	COLEC11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3352233	NM_024027.5(COLEC11):c.130+1753G>C	COLEC11 (C11S)	Single nucleotide variant (missense variant +1 more)	COLEC11-related disorder	GLikely benign
Select item 402557	NM_024027.5(COLEC11):c.130+1784T>C	COLEC11	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3068765	NM_024027.5(COLEC11):c.131-3C>T	COLEC11	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2194215	NM_024027.5(COLEC11):c.137C>T (p.Ala46Val)	COLEC11 (R17W +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3021594	NM_024027.5(COLEC11):c.162C>T (p.Ala54=)	COLEC11 (P25L)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 710310	NM_024027.5(COLEC11):c.165C>T (p.Pro55=)	COLEC11 (P26L)	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GLikely benign
Select item 732765	NM_024027.5(COLEC11):c.169C>T (p.Arg57Trp)	COLEC11 (R57W +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 2237111	NM_024027.5(COLEC11):c.172C>G (p.Pro58Ala)	COLEC11 (P58A +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 730885	NM_024027.5(COLEC11):c.191C>T (p.Thr64Met)	COLEC11 (T38M +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2102048	NM_024027.5(COLEC11):c.202+10G>A	COLEC11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1649571	NM_024027.5(COLEC11):c.202+19C>T	COLEC11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3053967	NM_024027.5(COLEC11):c.203-11487C>T	COLEC11	Single nucleotide variant (synonymous variant +1 more)	COLEC11-related disorder	GLikely benign
Select item 402556	NM_024027.5(COLEC11):c.203-11475G>A	COLEC11	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2535720	NM_024027.5(COLEC11):c.224A>G (p.Gln75Arg)	COLEC11 (Q25R +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3147849	NM_024027.5(COLEC11):c.239G>C (p.Gly80Ala)	COLEC11 (G54A +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1186047	NM_024027.5(COLEC11):c.240_241insGA (p.Arg81fs)	COLEC11 (R31fs +5 more)	Insertion (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 2499839	NM_024027.5(COLEC11):c.241del (p.Arg81fs)	COLEC11 (R31fs +5 more)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 2054245	NM_024027.5(COLEC11):c.242G>A (p.Arg81His)	COLEC11 (R55H +5 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 1599489	NM_024027.5(COLEC11):c.243T>C (p.Arg81=)	COLEC11	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1670258	NM_024027.5(COLEC11):c.255T>C (p.Ile85=)	COLEC11	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2585097	NM_024027.5(COLEC11):c.284G>T (p.Gly95Val)	COLEC11 (G21V +7 more)	Single nucleotide variant (missense variant +1 more)	3MC syndrome 2	GUncertain significance
Select item 758179	NM_024027.5(COLEC11):c.291C>T (p.Ser97=)	COLEC11	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1028290	NM_024027.5(COLEC11):c.307C>T (p.Pro103Ser)	COLEC11 (P79S +7 more)	Single nucleotide variant (missense variant +1 more)	3MC syndrome 2	GUncertain significance
Select item 30972	NM_024027.5(COLEC11):c.309del (p.Gly104fs)	COLEC11 (G101fs +7 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3352991	NM_024027.5(COLEC11):c.315T>C (p.Pro105=)	COLEC11	Single nucleotide variant (synonymous variant +1 more)	COLEC11-related disorder	GLikely benign
Select item 2269893	NM_024027.5(COLEC11):c.328G>T (p.Gly110Cys)	COLEC11 (G107C +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1897039	NM_024027.5(COLEC11):c.329-19G>A	COLEC11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 711324	NM_024027.5(COLEC11):c.329-6_329-5dup	COLEC11	Duplication (intron variant)	not provided	GLikely benign
Select item 3048079	NM_024027.5(COLEC11):c.329-6C>T	COLEC11	Single nucleotide variant (intron variant)	COLEC11-related disorder	GLikely benign
Select item 1402416	NM_024027.5(COLEC11):c.329-4G>T	COLEC11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3234603	NM_024027.5(COLEC11):c.333C>T (p.Leu111=)	COLEC11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2650636	NM_024027.5(COLEC11):c.345C>T (p.Cys115=)	COLEC11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 791847	NM_024027.5(COLEC11):c.360G>A (p.Lys120=)	COLEC11	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 774592	NM_024027.5(COLEC11):c.366C>T (p.Ile122=)	COLEC11	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3268885	NM_024027.5(COLEC11):c.367G>A (p.Gly123Arg)	COLEC11 (G75R +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1931156	NM_024027.5(COLEC11):c.368G>A (p.Gly123Glu)	COLEC11 (G120E +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2958818	NM_024027.5(COLEC11):c.424+13C>T	COLEC11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988574	NM_024027.5(COLEC11):c.424+16C>T	COLEC11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3006648	NM_024027.5(COLEC11):c.424+20G>A	COLEC11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1962970	NM_024027.5(COLEC11):c.425-16C>T	COLEC11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2061232	NM_024027.5(COLEC11):c.425-9A>G	COLEC11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1917565	NM_024027.5(COLEC11):c.429C>T (p.Val143=)	COLEC11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 770688	NM_024027.5(COLEC11):c.432C>T (p.Ala144=)	COLEC11	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 638367	NM_024027.5(COLEC11):c.433G>A (p.Gly145Ser)	COLEC11 (G145S +7 more)	Single nucleotide variant (missense variant +1 more)	3MC syndrome 2	GUncertain significance
Select item 2407454	NM_024027.5(COLEC11):c.434G>T (p.Gly145Val)	COLEC11 (G159V +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2585460	NM_024027.5(COLEC11):c.440G>A (p.Arg147His)	COLEC11 (R73H +7 more)	Single nucleotide variant (missense variant +1 more)	3MC syndrome 2	GUncertain significance
Select item 2217357	NM_024027.5(COLEC11):c.491C>T (p.Ala164Val)	COLEC11 (A114V +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2154180	NM_024027.5(COLEC11):c.492G>A (p.Ala164=)	COLEC11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 30968	NM_024027.5(COLEC11):c.505T>C (p.Ser169Pro)	COLEC11 (S169P +7 more)	Single nucleotide variant (missense variant +1 more)	3MC syndrome 2	GPathogenic
Select item 2440502	NM_024027.5(COLEC11):c.508T>C (p.Cys170Arg)	COLEC11 (C184R +7 more)	Single nucleotide variant (missense variant +1 more)	3MC syndrome 2	GUncertain significance
Select item 2711907	NM_024027.5(COLEC11):c.514G>A (p.Gly172Ser)	COLEC11 (G122S +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3055756	NM_024027.5(COLEC11):c.528G>A (p.Thr176=)	COLEC11	Single nucleotide variant (synonymous variant +1 more)	COLEC11-related disorder	GLikely benign
Select item 2093080	NM_024027.5(COLEC11):c.557A>G (p.Asn186Ser)	COLEC11 (N162S +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3035817	NM_024027.5(COLEC11):c.576C>T (p.Tyr192=)	COLEC11	Single nucleotide variant (synonymous variant +1 more)	COLEC11-related disorder	GLikely benign
Select item 2164095	NM_024027.5(COLEC11):c.581C>T (p.Ala194Val)	COLEC11 (A144V +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 739546	NM_024027.5(COLEC11):c.588C>T (p.Ala196=)	COLEC11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3268886	NM_024027.5(COLEC11):c.599G>A (p.Arg200His)	COLEC11 (R152H +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 30970	NM_024027.5(COLEC11):c.610G>A (p.Gly204Ser)	COLEC11 (G204S +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 797369	NM_024027.5(COLEC11):c.615C>A (p.Ile205=)	COLEC11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2210327	NM_024027.5(COLEC11):c.622C>G (p.Leu208Val)	COLEC11 (L160V +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2185870	NM_024027.5(COLEC11):c.636C>T (p.Gly212=)	COLEC11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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