ClinVar for Gene (Select 81035) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 193

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3147867	NM_130386.3(COLEC12):c.959A>T (p.Asp320Val)	COLEC12 (D320V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147866	NM_130386.3(COLEC12):c.943C>A (p.Gln315Lys)	COLEC12 (Q315K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147865	NM_130386.3(COLEC12):c.908T>C (p.Ile303Thr)	COLEC12 (I303T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147864	NM_130386.3(COLEC12):c.872A>G (p.Asn291Ser)	COLEC12 (N291S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3147863	NM_130386.3(COLEC12):c.710T>C (p.Ile237Thr)	COLEC12 (I237T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147862	NM_130386.3(COLEC12):c.662C>T (p.Thr221Met)	COLEC12 (T221M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147860	NM_130386.3(COLEC12):c.624C>G (p.Asn208Lys)	COLEC12 (N208K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147859	NM_130386.3(COLEC12):c.53G>A (p.Arg18Gln)	COLEC12 (R18Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147858	NM_130386.3(COLEC12):c.367C>T (p.Arg123Cys)	COLEC12 (R123C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147857	NM_130386.3(COLEC12):c.1823C>T (p.Pro608Leu)	COLEC12 (P608L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147856	NM_130386.3(COLEC12):c.1688G>A (p.Gly563Glu)	COLEC12 (G563E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147855	NM_130386.3(COLEC12):c.1592C>A (p.Pro531Gln)	COLEC12 (P531Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147853	NM_130386.3(COLEC12):c.1586C>G (p.Pro529Arg)	COLEC12 (P529R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147852	NM_130386.3(COLEC12):c.1465C>T (p.Pro489Ser)	COLEC12 (P489S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147851	NM_130386.3(COLEC12):c.1178G>A (p.Arg393His)	COLEC12 (R393H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147850	NM_130386.3(COLEC12):c.1037T>A (p.Ile346Asn)	COLEC12 (I346N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063564	GRCh37/hg19 18p11.32-11.23(chr18:136227-8359829)x1	ADCYAP1, AKAIN1 +28 more	Copy number loss	not specified	GPathogenic
Select item 3063563	GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1	ADCYAP1, AFG3L2 +63 more	Copy number loss	not specified	GPathogenic
Select item 3063558	GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063541	GRCh37/hg19 18p11.32-11.22(chr18:136226-10365982)x1	ADCYAP1, AKAIN1 +38 more	Copy number loss	not specified	GPathogenic
Select item 3063540	GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3063537	GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3062373	GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 2685612	GRCh37/hg19 18p11.32-11.22(chr18:136227-8513569)x1	ADCYAP1, AKAIN1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2685611	GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1	ADCYAP1, AFG3L2 +64 more	Copy number loss	not provided	GPathogenic
Select item 2685058	GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4	ADCYAP1, AFG3L2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2684861	GRCh37/hg19 18p11.32(chr18:136227-535230)x3	COLEC12, THOC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2648511	NM_130386.3(COLEC12):c.921C>T (p.Asn307=)	COLEC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623273	NM_130386.3(COLEC12):c.1073G>C (p.Arg358Pro)	COLEC12 (R358P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612457	NM_130386.3(COLEC12):c.187G>C (p.Glu63Gln)	COLEC12 (E63Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603620	NM_130386.3(COLEC12):c.1501T>C (p.Ser501Pro)	COLEC12 (S501P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599735	NM_130386.3(COLEC12):c.1913A>T (p.Lys638Met)	COLEC12 (K638M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594755	NM_130386.3(COLEC12):c.2018G>A (p.Arg673His)	COLEC12 (R673H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 2568603	NM_130386.3(COLEC12):c.1442C>T (p.Ala481Val)	COLEC12 (A481V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520698	NM_130386.3(COLEC12):c.2173G>A (p.Val725Ile)	COLEC12 (V725I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2469397	NM_130386.3(COLEC12):c.2105A>G (p.His702Arg)	COLEC12 (H702R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456658	NM_130386.3(COLEC12):c.2098C>T (p.His700Tyr)	COLEC12 (H700Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454636	NM_130386.3(COLEC12):c.1763C>T (p.Ala588Val)	COLEC12 (A588V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446821	GRCh37/hg19 18p11.32-11.1(chr18:1-15400035)	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 2403083	NM_130386.3(COLEC12):c.556A>G (p.Ser186Gly)	COLEC12 (S186G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379754	NM_130386.3(COLEC12):c.329C>T (p.Thr110Ile)	COLEC12 (T110I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371874	NM_130386.3(COLEC12):c.1799C>T (p.Pro600Leu)	COLEC12 (P600L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362689	NM_130386.3(COLEC12):c.1483G>C (p.Glu495Gln)	COLEC12 (E495Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350571	NM_130386.3(COLEC12):c.697G>T (p.Ala233Ser)	COLEC12 (A233S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345144	NM_130386.3(COLEC12):c.1073G>A (p.Arg358Gln)	COLEC12 (R358Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334280	NM_130386.3(COLEC12):c.2191G>A (p.Glu731Lys)	COLEC12 (E731K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310529	NM_130386.3(COLEC12):c.800C>T (p.Thr267Met)	COLEC12 (T267M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279338	NM_130386.3(COLEC12):c.707G>A (p.Arg236Gln)	COLEC12 (R236Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278343	NM_130386.3(COLEC12):c.319G>A (p.Glu107Lys)	COLEC12 (E107K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254060	NM_130386.3(COLEC12):c.494C>G (p.Thr165Ser)	COLEC12 (T165S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247536	NM_130386.3(COLEC12):c.182T>C (p.Val61Ala)	COLEC12 (V61A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809414	GRCh37/hg19 18p11.32(chr18:220341-556146)x3	COLEC12, THOC1	Copy number gain	not provided	GUncertain significance
Select item 1808401	GRCh37/hg19 18p11.32(chr18:136227-2626840)x1	ADCYAP1, CETN1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 1807830	GRCh37/hg19 18p11.32-11.23(chr18:136227-7218594)x1	ADCYAP1, AKAIN1 +26 more	Copy number loss	not provided	GPathogenic
Select item 1807753	GRCh37/hg19 18p11.32-11.21(chr18:136227-11283184)x1	ADCYAP1, AKAIN1 +41 more	Copy number loss	not provided	GPathogenic
Select item 1711456	GRCh37/hg19 18p11.32-11.22(chr18:1-8638260)x1	METTL4, MYL12A +29 more	Copy number loss	not provided	GPathogenic
Select item 1706501	GRCh37/hg19 18p11.32-11.21(chr18:136226-14632436)x1	METTL4, MPPE1 +64 more	Copy number loss	See cases	GPathogenic
Select item 1703623	GRCh37/hg19 18p11.32-11.23(chr18:136226-7131132)	ADCYAP1, AKAIN1 +26 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1703622	GRCh37/hg19 18p11.32-11.22(chr18:136226-10172941)	ADCYAP1, AKAIN1 +38 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1701345	GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3	ANKRD12, ANKRD30B +65 more	Copy number gain	not provided	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1526594	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 1526593	GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938)	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 1526592	GRCh37/hg19 18p11.32-11.21(chr18:136226-14384326)	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 1526591	GRCh37/hg19 18p11.32-11.21(chr18:136226-13655146)	TUBB6, TWSG1 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526590	GRCh37/hg19 18p11.32-11.31(chr18:136226-6103499)	ADCYAP1, AKAIN1 +24 more	Copy number loss	not specified	GPathogenic
Select item 1340357	GRCh37/hg19 18p11.32(chr18:136227-2694169)x1	ADCYAP1, CETN1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 1340066	GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3	ABHD3, ADCYAP1 +95 more	Copy number gain	not provided	GPathogenic
Select item 1330176	GRCh37/hg19 18p11.32-11.1(chr18:10501-15410398)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1328441	GRCh37/hg19 18p11.32-11.31(chr18:64647-4472031)x3	ADCYAP1, CETN1 +19 more	Copy number loss	not provided	GUncertain significance
Select item 1180530	GRCh37/hg19 18p11.32-11.31(chr18:64996-6838315)x1	CETN1, CLUL1 +25 more	Copy number loss	not provided	GPathogenic
Select item 983167	GRCh37/hg19 18p11.32(chr18:10001-1322185)	TYMSOS, TYMS +8 more	Copy number gain	See cases	GUncertain significance
Select item 979685	GRCh37/hg19 18p11.32-11.31(chr18:136226-3415478)x1	MYOM1, USP14 +17 more	Copy number loss	not provided	GPathogenic
Select item 979534	GRCh37/hg19 18p11.32(chr18:136226-2243194)x1	TYMS, ADCYAP1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 979530	GRCh37/hg19 18p11.32(chr18:1-2243194)x3	TYMSOS, COLEC12 +8 more	Copy number gain	not provided	GUncertain significance
Select item 979529	GRCh37/hg19 18p11.32(chr18:136226-2626840)x1	NDC80, THOC1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 979528	GRCh37/hg19 18p11.32(chr18:351499-825957)x3	CETN1, ENOSF1 +5 more	Copy number gain	not provided	GLikely benign
Select item 816496	GRCh37/hg19 18p11.32-11.21(chr18:13034-15330525)x1	MYL12B, FAM210A +65 more	Copy number loss	See cases	GPathogenic
Select item 815988	GRCh37/hg19 18p11.32-q11.1(chr18:136226-18529578)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not provided	GPathogenic
Select item 815987	GRCh37/hg19 18p11.32-11.21(chr18:136226-15175005)x1	MC2R, ZBTB14 +65 more	Copy number loss	not provided	GPathogenic
Select item 815986	GRCh37/hg19 18p11.32-11.21(chr18:136304-15143714)x1	CEP192, TUBB6 +65 more	Copy number loss	not provided	GPathogenic
Select item 815981	GRCh37/hg19 18p11.32-11.21(chr18:136226-13894429)x1	RAB12, RAB31 +62 more	Copy number loss	not provided	GPathogenic
Select item 815966	GRCh37/hg19 18p11.32-11.31(chr18:136226-5407839)x1	METTL4, MYL12B +22 more	Copy number loss	not provided	GPathogenic
Select item 815964	GRCh37/hg19 18p11.32-11.31(chr18:136226-3502493)x1	MYOM1, SMCHD1 +18 more	Copy number loss	not provided	GPathogenic
Select item 815959	GRCh37/hg19 18p11.32(chr18:136226-1552876)x1	ADCYAP1, CETN1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 790189	NM_130386.3(COLEC12):c.1755A>G (p.Pro585=)	COLEC12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 789903	NM_130386.3(COLEC12):c.94A>G (p.Asn32Asp)	COLEC12 (N32D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 771032	NM_130386.3(COLEC12):c.1800= (p.Pro600=)	COLEC12	Variation (no sequence alteration)	not provided	GBenign
Select item 770276	NM_130386.3(COLEC12):c.1564= (p.Ser522=)	COLEC12	Variation (no sequence alteration)	not provided	GBenign
Select item 769932	NM_130386.3(COLEC12):c.154A>G (p.Ile52Val)	COLEC12 (I52V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768925	NM_130386.3(COLEC12):c.280+3_280+4dup	COLEC12	Duplication (intron variant)	not provided	GBenign
Select item 687813	GRCh37/hg19 18p11.32(chr18:136226-1197643)x3	ADCYAP1, CETN1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 687199	GRCh37/hg19 18p11.32(chr18:136226-475796)x1	COLEC12, THOC1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 635889	Single allele	ADCYAP1, CETN1 +8 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 625805	GRCh37/hg19 18p11.32(chr18:13034-547239)	COLEC12, THOC1 +1 more	Copy number loss	not provided	GLikely pathogenic
Select item 564565	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4	NDUFV2, POTEC +65 more	Copy number gain	not provided	GPathogenic
Select item 564564	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198989)x1	DLGAP1, ZNF519 +65 more	Copy number loss	not provided	GPathogenic
Select item 564563	GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4	PSMG2, SMCHD1 +65 more	Copy number gain	not provided	GPathogenic

<< First< Prev

Page of 2