ClinVar for Gene (Select 341019) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244793	NC_000011.9:g.(?_31305244)_(31349768_?)del	DCDC1	Deletion	not provided	GUncertain significance
Select item 3244792	NC_000011.9:g.(?_31349644)_(31832375_?)del	DCDC1, DNAJC24 +3 more	Deletion	not provided	GUncertain significance
Select item 3080423	NM_001387274.1(DCDC1):c.844C>T (p.Leu282Phe)	DCDC1 (L282F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080422	NM_001387274.1(DCDC1):c.827G>A (p.Arg276Gln)	DCDC1 (R276Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3080421	NM_001387274.1(DCDC1):c.3410A>G (p.Glu1137Gly)	DCDC1 (E244G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080420	NM_001387274.1(DCDC1):c.562G>T (p.Ala188Ser)	DCDC1, LOC126861175 (A188S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080419	NM_001387274.1(DCDC1):c.285A>T (p.Gln95His)	DCDC1 (Q95H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080418	NM_001387274.1(DCDC1):c.2946T>A (p.Asn982Lys)	DCDC1 (N982K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080417	NM_001387274.1(DCDC1):c.2933G>A (p.Arg978Gln)	DCDC1 (R85Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080416	NM_001387274.1(DCDC1):c.2887C>T (p.Arg963Trp)	DCDC1 (R963W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3080415	NM_001387274.1(DCDC1):c.4736C>T (p.Thr1579Ile)	DCDC1 (T1576I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080414	NM_001387274.1(DCDC1):c.4447G>A (p.Glu1483Lys)	DCDC1 (E590K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080413	NM_001387274.1(DCDC1):c.4379C>T (p.Thr1460Ile)	DCDC1 (T1460I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080412	NM_001387274.1(DCDC1):c.4115C>T (p.Ser1372Leu)	DCDC1 (S290L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080411	NM_001387274.1(DCDC1):c.3989G>A (p.Arg1330Lys)	DCDC1 (R248K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080410	NM_001387274.1(DCDC1):c.2797T>C (p.Tyr933His)	DCDC1 (Y40H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080409	NM_001387274.1(DCDC1):c.1015T>A (p.Tyr339Asn)	DCDC1 (Y339N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3067374	NM_001387274.1(DCDC1):c.4822C>A (p.Gln1608Lys)	DCDC1 (Q1605K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3063225	GRCh37/hg19 11p13(chr11:31158395-31677662)x1	DCDC1, DNAJC24 +2 more	Copy number loss	not specified	GPathogenic
Select item 3063204	GRCh37/hg19 11p13(chr11:31001762-31555701)x1	DCDC1, DNAJC24 +2 more	Copy number loss	not specified	GUncertain significance
Select item 3060329	NM_001387274.1(DCDC1):c.2592G>T (p.Arg864Ser)	DCDC1 (R864S)	Single nucleotide variant (missense variant +2 more)	DCDC1-related disorder	GBenign
Select item 3051975	NM_001387274.1(DCDC1):c.1616A>G (p.Gln539Arg)	DCDC1 (Q539R)	Single nucleotide variant (missense variant +1 more)	DCDC1-related disorder	GLikely benign
Select item 3051102	NM_001387274.1(DCDC1):c.2308C>G (p.Gln770Glu)	DCDC1 (Q770E)	Single nucleotide variant (missense variant +1 more)	DCDC1-related disorder	GBenign
Select item 3050983	NM_001387274.1(DCDC1):c.1421A>G (p.Tyr474Cys)	DCDC1 (Y474C)	Single nucleotide variant (missense variant +1 more)	DCDC1-related disorder	GLikely benign
Select item 3050634	NM_001387274.1(DCDC1):c.164+3A>G	DCDC1	Single nucleotide variant (intron variant)	DCDC1-related disorder	GLikely benign
Select item 3049961	NM_001387274.1(DCDC1):c.2052A>G (p.Ala684=)	DCDC1	Single nucleotide variant (synonymous variant +1 more)	DCDC1-related disorder	GLikely benign
Select item 3044067	NM_001387274.1(DCDC1):c.1457C>T (p.Thr486Met)	DCDC1 (T486M)	Single nucleotide variant (missense variant +1 more)	DCDC1-related disorder	GBenign
Select item 3044015	NM_001387274.1(DCDC1):c.1955A>G (p.Asp652Gly)	DCDC1 (D652G)	Single nucleotide variant (missense variant +1 more)	DCDC1-related disorder	GLikely benign
Select item 3043008	NM_001387274.1(DCDC1):c.2254T>G (p.Ser752Ala)	DCDC1 (S752A)	Single nucleotide variant (missense variant +1 more)	DCDC1-related disorder	GBenign
Select item 3042435	NM_001387274.1(DCDC1):c.1668del (p.Phe556fs)	DCDC1 (F556fs)	Deletion (frameshift variant +1 more)	DCDC1-related disorder	GBenign
Select item 3041862	NM_001387274.1(DCDC1):c.2298+8C>T	DCDC1	Single nucleotide variant (intron variant)	DCDC1-related disorder	GBenign
Select item 3041812	NM_001387274.1(DCDC1):c.1983+10T>C	DCDC1	Single nucleotide variant (intron variant)	DCDC1-related disorder	GLikely benign
Select item 3041707	NM_001387274.1(DCDC1):c.2193T>C (p.Ala731=)	DCDC1	Single nucleotide variant (synonymous variant +1 more)	DCDC1-related disorder	GLikely benign
Select item 3041278	NM_001387274.1(DCDC1):c.3178C>T (p.Leu1060Phe)	DCDC1 (L1060F +1 more)	Single nucleotide variant (missense variant +1 more)	DCDC1-related disorder	GBenign
Select item 3040658	NM_001387274.1(DCDC1):c.616C>T (p.Leu206=)	DCDC1, LOC126861175	Single nucleotide variant (synonymous variant +1 more)	DCDC1-related disorder	GLikely benign
Select item 3040380	NM_001387274.1(DCDC1):c.2653A>G (p.Asn885Asp)	DCDC1 (N885D)	Single nucleotide variant (missense variant +2 more)	DCDC1-related disorder	GLikely benign
Select item 3040257	NM_001387274.1(DCDC1):c.961-10dup	DCDC1	Duplication (intron variant)	DCDC1-related disorder	GLikely benign
Select item 3037630	NM_001387274.1(DCDC1):c.2492C>A (p.Thr831Asn)	DCDC1 (T831N)	Single nucleotide variant (missense variant +1 more)	DCDC1-related disorder	GBenign
Select item 3037505	NM_001387274.1(DCDC1):c.1657A>G (p.Met553Val)	DCDC1 (M553V)	Single nucleotide variant (missense variant +1 more)	DCDC1-related disorder	GBenign
Select item 3005881	NM_001387274.1(DCDC1):c.1054+2435A>G	DCDC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2744791	NM_001387274.1(DCDC1):c.960+13T>C	DCDC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2732816	NM_001387274.1(DCDC1):c.476A>G (p.Asn159Ser)	DCDC1, LOC126861175 (N159S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2685402	GRCh37/hg19 11p13(chr11:31296614-31466509)x1	DCDC1, DNAJC24 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2641699	NM_001387274.1(DCDC1):c.4090A>G (p.Ile1364Val)	DCDC1 (I1364V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2641698	NM_001387274.1(DCDC1):c.4687G>A (p.Glu1563Lys)	DCDC1 (E1560K +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2617160	NM_001387274.1(DCDC1):c.648C>G (p.Phe216Leu)	DCDC1, LOC126861175 (F216L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2582899	GRCh37/hg19 11p13(chr11:31260027-31639671)x1	DCDC1, DNAJC24 +2 more	Copy number loss	not provided	GUncertain significance
Select item 2515090	NM_001387274.1(DCDC1):c.182A>G (p.Gln61Arg)	DCDC1 (Q61R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481286	NM_001387274.1(DCDC1):c.851T>C (p.Ile284Thr)	DCDC1 (I284T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467904	NM_001387274.1(DCDC1):c.811A>G (p.Thr271Ala)	DCDC1 (T271A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427580	NC_000011.9:g.(?_30253450)_(32460464_?)del	ARL14EP, DCDC1 +9 more	Deletion	not provided	GUncertain significance
Select item 2426507	NC_000011.9:g.(?_31284610)_(31671789_?)del	DCDC1, DNAJC24 +2 more	Deletion	not provided	GUncertain significance
Select item 2394146	NM_001387274.1(DCDC1):c.1030A>G (p.Arg344Gly)	DCDC1 (R344G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387120	NM_001387274.1(DCDC1):c.949A>G (p.Thr317Ala)	DCDC1 (T317A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2353587	NM_001387274.1(DCDC1):c.205A>G (p.Thr69Ala)	DCDC1 (T69A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287823	NM_001387274.1(DCDC1):c.880T>C (p.Ser294Pro)	DCDC1 (S294P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251829	NM_001387274.1(DCDC1):c.745A>C (p.Lys249Gln)	DCDC1, LOC126861175 (K249Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235666	NM_001387274.1(DCDC1):c.815A>T (p.Asp272Val)	DCDC1 (D272V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222187	NM_001387274.1(DCDC1):c.1001C>A (p.Pro334Gln)	DCDC1 (P334Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2174403	NM_001387274.1(DCDC1):c.961-9C>T	DCDC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2039651	NM_001387274.1(DCDC1):c.754+9G>T	DCDC1, LOC126861175	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2039560	NM_001387274.1(DCDC1):c.717G>A (p.Thr239=)	DCDC1, LOC126861175	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2038236	NM_001387274.1(DCDC1):c.716C>T (p.Thr239Met)	DCDC1, LOC126861175 (T239M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1967410	NM_001387274.1(DCDC1):c.20A>G (p.Glu7Gly)	DCDC1 (E7G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1954231	NM_001387274.1(DCDC1):c.262G>A (p.Val88Ile)	DCDC1 (V88I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1951466	NM_001387274.1(DCDC1):c.534T>G (p.Ala178=)	DCDC1, LOC126861175	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1951186	NM_001387274.1(DCDC1):c.592-18C>T	DCDC1, LOC126861175	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1807696	GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1	ABTB2, APIP +40 more	Copy number loss	not provided	GPathogenic
Select item 1695895	GRCh37/hg19 11p14.1-13(chr11:27547893-31656604)x1	BDNF, BDNF-AS +11 more	Copy number loss	not provided	Gnot provided
Select item 1662881	NM_001387274.1(DCDC1):c.672C>G (p.Leu224=)	DCDC1, LOC126861175	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1588336	NM_001387274.1(DCDC1):c.591+13C>T	DCDC1, LOC126861175	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1407634	NM_001387274.1(DCDC1):c.474G>T (p.Arg158=)	DCDC1, LOC126861175	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1286561	NM_001387274.1(DCDC1):c.600G>A (p.Glu200=)	LOC126861175, DCDC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1072681	NC_000011.9:g.(?_31284590)_(31824402_?)del	DCDC1, DNAJC24 +3 more	Deletion	Aniridia 1 +1 more	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	RASSF10, RCN1 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CCKBR, OR56A4 +343 more	Copy number gain	not provided	GPathogenic
Select item 813015	NM_001387274.1(DCDC1):c.247G>A (p.Val83Met)	DCDC1 (V83M)	Single nucleotide variant (missense variant +1 more)	DCDC1-related disorder +1 more	GBenign
Select item 721756	NM_001387274.1(DCDC1):c.4701G>C (p.Trp1567Cys)	DCDC1 (W671C +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 718776	NM_001387274.1(DCDC1):c.4291G>A (p.Ala1431Thr)	DCDC1 (A1431T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 718775	NM_001387274.1(DCDC1):c.4481A>G (p.Lys1494Arg)	DCDC1 (K601R +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 718774	NM_001387274.1(DCDC1):c.5101T>C (p.Ser1701Pro)	DCDC1 (S1698P +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 689279	GRCh37/hg19 11p13(chr11:31326349-31415981)x3	DCDC1, DNAJC24	Copy number gain	not provided	GUncertain significance
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 647471	NC_000011.9:g.(?_31284590)_(31832374_?)del	DCDC1, DNAJC24 +3 more	Deletion	Aniridia 1 +1 more	GPathogenic
Select item 583750	NC_000011.9:g.(?_31284590)_(32456911_?)del	IMMP1L, DCDC1 +5 more	Deletion	Aniridia 1 +5 more	GPathogenic
Select item 563875	GRCh37/hg19 11p14.1-13(chr11:29883001-33865721)x1	ARL14EP, C11orf91 +23 more	Copy number loss	not provided	GPathogenic
Select item 563829	GRCh37/hg19 11p13(chr11:31351185-31573646)x3	DCDC1, DNAJC24 +2 more	Copy number gain	not provided	GUncertain significance
Select item 563823	GRCh37/hg19 11p13(chr11:31325456-31501794)x1	DNAJC24, DCDC1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 560036	Single allele	DCDC1, DNAJC24 +4 more	Deletion	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	ABTB2, ANO3 +48 more	Copy number loss	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	OR2AG2, OR2D2 +364 more	Copy number gain	See cases	GPathogenic
Select item 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	ABTB2, APIP +50 more	Copy number loss	See cases	GPathogenic
Select item 395589	GRCh37/hg19 11p13(chr11:31210842-31312348)x1	DCDC1	Copy number loss	See cases	GUncertain significance
Select item 395339	GRCh37/hg19 11p13(chr11:31210842-35436121)x1	ABTB2, APIP +30 more	Copy number loss	See cases	GPathogenic
Select item 395224	GRCh37/hg19 11p13(chr11:31292909-31357084)x1	DCDC1	Copy number loss	See cases	GLikely benign
Select item 376759	GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1	KCNA4, KIF18A +39 more	Copy number loss	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome	GPathogenic

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