ClinVar for Gene (Select 2222) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245523	NC_000008.10:g.(?_11351220)_(11710963_?)dup	BLK, CTSB +3 more	Duplication	Atrioventricular septal defect 4	GUncertain significance
Select item 3242300	GRCh37/hg19 8p23.1(chr8:7153587-12245784)x3	BLK, C8orf74 +48 more	Copy number gain	not provided	GPathogenic
Select item 3148928	GRCh37/hg19 8p23.3-22(chr8:158049-16225393)x3	AGPAT5, ANGPT2 +77 more	Copy number gain	See cases	GPathogenic
Select item 3094319	NM_004462.5(FDFT1):c.919C>A (p.Gln307Lys)	FDFT1 (Q222K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094318	NM_004462.5(FDFT1):c.843A>C (p.Arg281Ser)	FDFT1 (R281S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094317	NM_004462.5(FDFT1):c.619A>G (p.Met207Val)	FDFT1 (M122V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094316	NM_004462.5(FDFT1):c.607C>G (p.Arg203Gly)	FDFT1 (R262G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094315	NM_004462.5(FDFT1):c.435C>A (p.Asp145Glu)	FDFT1 (D204E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094314	NM_004462.5(FDFT1):c.396T>G (p.Phe132Leu)	FDFT1 (F191L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094313	NM_004462.5(FDFT1):c.143A>G (p.Asn48Ser)	FDFT1 (N48S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3094312	NM_004462.5(FDFT1):c.1136G>A (p.Arg379Gln)	FDFT1 (R212Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094311	NM_004462.5(FDFT1):c.1111C>G (p.Leu371Val)	FDFT1 (L286V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063015	GRCh37/hg19 8p23.1(chr8:10783690-11882401)x3	BLK, CTSB +10 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3060113	NM_004462.5(FDFT1):c.100-84TCCCAC[5]	FDFT1	Microsatellite (inframe_indel +2 more)	FDFT1-related disorder	GBenign
Select item 3059443	NM_004462.5(FDFT1):c.201C>T (p.Asn67=)	FDFT1	Single nucleotide variant (synonymous variant +2 more)	FDFT1-related disorder	GBenign
Select item 3058586	NM_004462.5(FDFT1):c.198-7T>A	FDFT1	Single nucleotide variant (intron variant)	FDFT1-related disorder	GLikely benign
Select item 3057202	NM_004462.5(FDFT1):c.100-84TCCCAC[4]	FDFT1	Microsatellite (inframe_indel +2 more)	FDFT1-related disorder	GBenign
Select item 3054470	NM_004462.5(FDFT1):c.880-21dup	FDFT1	Duplication (intron variant)	FDFT1-related disorder	GLikely benign
Select item 3054358	NM_004462.5(FDFT1):c.100-498C>T	FDFT1	Single nucleotide variant (5 prime UTR variant +1 more)	FDFT1-related disorder	GBenign
Select item 3051193	NM_004462.5(FDFT1):c.100-84TCCCAC[10]	FDFT1	Microsatellite (inframe_indel +2 more)	not provided +1 more	GLikely benign
Select item 3050931	NM_004462.5(FDFT1):c.1106A>G (p.Gln369Arg)	FDFT1 (Q202R +4 more)	Single nucleotide variant (missense variant)	FDFT1-related disorder	GLikely benign
Select item 3050246	NM_004462.5(FDFT1):c.100-130C>G	FDFT1, LOC129999907 (D49E)	Single nucleotide variant (missense variant +1 more)	FDFT1-related disorder	GLikely benign
Select item 3049597	NM_004462.5(FDFT1):c.747G>A (p.Pro249=)	FDFT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3049149	NM_004462.5(FDFT1):c.930C>G (p.Phe310Leu)	FDFT1 (F143L +4 more)	Single nucleotide variant (missense variant)	FDFT1-related disorder	GLikely benign
Select item 3048321	NM_004462.5(FDFT1):c.-2G>A	FDFT1	Single nucleotide variant (5 prime UTR variant +1 more)	FDFT1-related disorder	GLikely benign
Select item 3045075	NM_004462.5(FDFT1):c.260C>G (p.Thr87Ser)	FDFT1 (T146S +3 more)	Single nucleotide variant (missense variant +1 more)	FDFT1-related disorder	GLikely benign
Select item 3044732	NM_004462.5(FDFT1):c.1251C>G (p.His417Gln)	FDFT1 (H250Q +4 more)	Single nucleotide variant (missense variant)	FDFT1-related disorder	GBenign
Select item 3043613	NM_004462.5(FDFT1):c.1067C>G (p.Ser356Cys)	FDFT1 (S189C +4 more)	Single nucleotide variant (missense variant)	FDFT1-related disorder	GBenign
Select item 3043487	NM_004462.5(FDFT1):c.100-84TCCCAC[9]	FDFT1	Microsatellite (inframe_indel +2 more)	FDFT1-related disorder	GBenign
Select item 3042233	NM_004462.5(FDFT1):c.483T>C (p.His161=)	FDFT1	Single nucleotide variant (synonymous variant +1 more)	FDFT1-related disorder	GLikely benign
Select item 3040668	NM_004462.5(FDFT1):c.382-3dup	FDFT1	Duplication (intron variant)	FDFT1-related disorder	GLikely benign
Select item 3037723	NM_004462.5(FDFT1):c.100-145C>G	LOC129999907, FDFT1	Single nucleotide variant (synonymous variant +1 more)	FDFT1-related disorder	GBenign
Select item 3034841	NM_004462.5(FDFT1):c.804C>T (p.His268=)	FDFT1	Single nucleotide variant (synonymous variant)	FDFT1-related disorder	GLikely benign
Select item 3029035	NM_004462.5(FDFT1):c.174C>T (p.Ile58=)	FDFT1	Single nucleotide variant (synonymous variant +2 more)	FDFT1-related disorder	GLikely benign
Select item 3026304	NM_004462.5(FDFT1):c.912T>C (p.Tyr304=)	FDFT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2691547	NM_004462.5(FDFT1):c.87del (p.Lys30fs)	FDFT1 (K30fs)	Deletion (frameshift variant +2 more)	not specified	GUncertain significance
Select item 2691504	NM_004462.5(FDFT1):c.452G>A (p.Gly151Asp)	FDFT1 (G151D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685282	GRCh37/hg19 8p23.3-23.1(chr8:158049-11898696)x1	DEFB104B, DEFB105A +64 more	Copy number loss	not provided	GPathogenic
Select item 2684522	GRCh37/hg19 8p23.1-22(chr8:8093169-14526969)x3	BLK, C8orf48 +34 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	ADAM18, ADAM2 +225 more	Copy number gain	not provided	GPathogenic
Select item 2658416	NM_004462.5(FDFT1):c.1104G>A (p.Thr368=)	FDFT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658415	NM_004462.5(FDFT1):c.954A>G (p.Lys318=)	FDFT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2658414	NM_004462.5(FDFT1):c.100-40C>T	FDFT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2658413	NM_004462.5(FDFT1):c.100-208C>T	FDFT1, LOC129999907	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2631608	NM_004462.5(FDFT1):c.100-84TCCCAC[16]	FDFT1	Microsatellite (inframe_indel +2 more)	FDFT1-related disorder	GUncertain significance
Select item 2590087	NM_004462.5(FDFT1):c.975G>A (p.Met325Ile)	FDFT1 (M261I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580324	GRCh37/hg19 8p23.1(chr8:7080281-12045269)x3	BLK, C8orf74 +47 more	Copy number gain	8p23.1 duplication syndrome	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	DMTN, DOK2 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579044	NM_004462.5(FDFT1):c.100-85G>C	FDFT1 (Q64H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2579043	NM_004462.5(FDFT1):c.100-86_100-85insCTCCCA	FDFT1, LOC129999907	Insertion (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2571308	NM_004462.5(FDFT1):c.627G>A (p.Leu209=)	FDFT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2571307	NM_004462.5(FDFT1):c.100-179C>G	FDFT1, LOC129999907 (T33S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2559402	NM_004462.5(FDFT1):c.566C>T (p.Ala189Val)	FDFT1 (A104V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547238	NM_004462.5(FDFT1):c.295A>G (p.Asn99Asp)	FDFT1 (N35D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528894	NM_004462.5(FDFT1):c.1143C>G (p.His381Gln)	FDFT1 (H317Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2504009	NM_004462.5(FDFT1):c.702+1G>T	FDFT1	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 2499069	NM_004462.5(FDFT1):c.852T>C (p.Ser284=)	FDFT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2499068	NM_004462.5(FDFT1):c.99+410G>A	FDFT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2481772	NM_004462.5(FDFT1):c.746C>G (p.Pro249Arg)	FDFT1 (P185R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408817	NM_004462.5(FDFT1):c.1230C>G (p.Asp410Glu)	FDFT1 (D410E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407222	NM_004462.5(FDFT1):c.608G>A (p.Arg203His)	FDFT1 (R118H +4 more)	Single nucleotide variant (missense variant)	FDFT1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2403312	NM_004462.5(FDFT1):c.746C>T (p.Pro249Leu)	FDFT1 (P185L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397946	NM_004462.5(FDFT1):c.380C>T (p.Thr127Met)	FDFT1 (T186M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395264	NM_004462.5(FDFT1):c.784C>G (p.Leu262Val)	FDFT1 (L321V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384099	NM_004462.5(FDFT1):c.740C>T (p.Ala247Val)	FDFT1 (A162V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379339	NM_004462.5(FDFT1):c.501G>C (p.Glu167Asp)	FDFT1 (E167D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377574	NM_004462.5(FDFT1):c.1103C>T (p.Thr368Met)	FDFT1 (T304M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373252	NM_004462.5(FDFT1):c.116G>C (p.Ser39Thr)	FDFT1 (S98T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2347411	NM_004462.5(FDFT1):c.1100G>A (p.Arg367Gln)	FDFT1 (R200Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306274	NM_004462.5(FDFT1):c.1142A>C (p.His381Pro)	FDFT1 (H317P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302382	NM_004462.5(FDFT1):c.1085T>C (p.Ile362Thr)	FDFT1 (I362T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286103	NM_004462.5(FDFT1):c.386C>A (p.Ser129Tyr)	FDFT1 (S44Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267056	NM_004462.5(FDFT1):c.1053C>G (p.Asp351Glu)	FDFT1 (D184E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255015	NM_004462.5(FDFT1):c.319C>T (p.Pro107Ser)	FDFT1 (P166S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247681	NM_004462.5(FDFT1):c.308T>G (p.Phe103Cys)	FDFT1 (F162C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244281	NM_004462.5(FDFT1):c.755T>C (p.Ile252Thr)	FDFT1 (I188T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223671	NM_004462.5(FDFT1):c.810C>G (p.Ile270Met)	FDFT1 (I185M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807804	GRCh37/hg19 8p23.1(chr8:8093066-12548732)x1	BLK, C8orf74 +29 more	Copy number loss	not provided	GPathogenic
Select item 1807751	GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	ZNF705B, ZNF705D +93 more	Copy number loss	not provided	GPathogenic
Select item 1805053	NM_004462.5(FDFT1):c.100-101G>A	LOC129999907, FDFT1 (W59*)	Single nucleotide variant (nonsense +1 more)	Squalene synthase deficiency	GUncertain significance
Select item 1711134	Single allele	ADAM32, ADAM7 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703667	GRCh37/hg19 8p23.1(chr8:8093168-11898980)	BLK, C8orf74 +23 more	Copy number gain	Neurodevelopmental delay	GPathogenic
Select item 1703665	Single allele	ASAH1-AS1, ASH2L +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1466701	NC_000008.10:g.(?_9912027)_(11710963_?)del	BLK, C8orf74 +14 more	Deletion	not provided	GUncertain significance
Select item 1410533	NC_000008.10:g.(?_9912027)_(11710963_?)dup	NEIL2, PRSS55 +14 more	Duplication	not provided	GUncertain significance
Select item 1341184	GRCh37/hg19 8p23.1(chr8:11346831-11668949)x3	BLK, FDFT1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1339975	GRCh37/hg19 8p23.3-23.1(chr8:158048-11936107)x3	AGPAT5, ANGPT2 +64 more	Copy number gain	not provided	GPathogenic
Select item 1301611	NM_004462.5(FDFT1):c.100-84TCCCAC[11]	FDFT1	Microsatellite (inframe_indel +2 more)	Squalene synthase deficiency	GUncertain significance
Select item 1299106	NM_004462.5(FDFT1):c.478_483del (p.Lys160_His161del)	FDFT1	Deletion (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 1299105	NM_004462.5(FDFT1):c.129C>G (p.Cys43Trp)	FDFT1 (C102W +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1285267	NM_004462.5(FDFT1):c.1033-25T>C	FDFT1	Single nucleotide variant (intron variant)	Squalene synthase deficiency	GBenign
Select item 1285266	NM_004462.5(FDFT1):c.972G>C (p.Leu324=)	FDFT1	Single nucleotide variant (synonymous variant)	Squalene synthase deficiency +1 more	GBenign
Select item 1285265	NM_004462.5(FDFT1):c.631T>C (p.Leu211=)	FDFT1	Single nucleotide variant (synonymous variant)	Squalene synthase deficiency	GBenign
Select item 1285264	NM_004462.5(FDFT1):c.134A>G (p.Lys45Arg)	FDFT1 (K104R +1 more)	Single nucleotide variant (missense variant +2 more)	Squalene synthase deficiency +1 more	GBenign
Select item 1276491	NM_004462.5(FDFT1):c.879+9G>C	FDFT1	Single nucleotide variant (intron variant)	Squalene synthase deficiency +1 more	GBenign
Select item 1184828	Single allele	BLK, CTSB +6 more	Duplication	Thoracic aortic aneurysm	GLikely pathogenic

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