ClinVar for Gene (Select 9557) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063188	GRCh37/hg19 1q21.1-21.2(chr1:146106723-147844758)x3	ACP6, BCL9 +7 more	Copy number gain	not specified	GPathogenic
Select item 3062999	GRCh37/hg19 1q21.1-21.2(chr1:146496425-147048600)x3	BCL9, CHD1L +2 more	Copy number gain	not specified	GUncertain significance
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062977	GRCh37/hg19 1q21.1-21.2(chr1:146470887-147929115)x1	ACP6, BCL9 +6 more	Copy number loss	not specified	GPathogenic
Select item 3062888	GRCh37/hg19 1q21.1-21.2(chr1:146112080-147806677)x3	ACP6, BCL9 +7 more	Copy number gain	not specified	GPathogenic
Select item 3062866	GRCh37/hg19 1q21.1-21.2(chr1:146043713-147830830)x1	ACP6, BCL9 +8 more	Copy number loss	not specified	GPathogenic
Select item 3062811	GRCh37/hg19 1q21.1-21.2(chr1:146105170-147830830)x1	ACP6, BCL9 +7 more	Copy number loss	not specified	GPathogenic
Select item 3062789	GRCh37/hg19 1q21.1-21.2(chr1:146470887-147856007)x3	ACP6, BCL9 +6 more	Copy number gain	not specified	GPathogenic
Select item 3062722	GRCh37/hg19 1q21.1-21.2(chr1:146470887-147929323)x1	ACP6, BCL9 +6 more	Copy number loss	not specified	GPathogenic
Select item 3062644	GRCh37/hg19 1q21.1-21.2(chr1:146023922-147831170)x3	ACP6, BCL9 +8 more	Copy number gain	not specified	GPathogenic
Select item 3057589	NM_004284.6(CHD1L):c.849A>C (p.Ser283=)	CHD1L	Single nucleotide variant (synonymous variant +1 more)	CHD1L-related condition	GBenign
Select item 3053379	NM_004284.6(CHD1L):c.1386-2A>G	CHD1L	Single nucleotide variant (splice acceptor variant)	CHD1L-related condition	GLikely benign
Select item 3051556	NM_004284.6(CHD1L):c.36A>G (p.Gln12=)	CHD1L, LOC129931354	Single nucleotide variant (5 prime UTR variant +3 more)	CHD1L-related condition	GLikely benign
Select item 3051539	NM_004284.6(CHD1L):c.1647G>A (p.Gln549=)	CHD1L	Single nucleotide variant (synonymous variant +1 more)	CHD1L-related condition	GLikely benign
Select item 3050965	NM_004284.6(CHD1L):c.896-10del	CHD1L	Deletion (intron variant)	CHD1L-related condition	GLikely benign
Select item 3050020	NM_004284.6(CHD1L):c.1323T>C (p.Ser441=)	CHD1L	Single nucleotide variant (synonymous variant +1 more)	CHD1L-related condition	GBenign
Select item 3048436	NM_004284.6(CHD1L):c.1259G>A (p.Ser420Asn)	CHD1L (S139N +7 more)	Single nucleotide variant (missense variant +1 more)	CHD1L-related condition	GUncertain significance
Select item 3044834	NM_004284.6(CHD1L):c.23G>T (p.Ser8Ile)	CHD1L, LOC129931354 (S8I)	Single nucleotide variant (5 prime UTR variant +3 more)	CHD1L-related condition	GLikely benign
Select item 3044447	NM_004284.6(CHD1L):c.1988G>A (p.Arg663Lys)	CHD1L (R382K +7 more)	Single nucleotide variant (missense variant +1 more)	CHD1L-related condition	GLikely benign
Select item 3042114	NM_004284.6(CHD1L):c.896-10T>A	CHD1L	Single nucleotide variant (intron variant)	CHD1L-related condition	GLikely benign
Select item 3040828	NM_004284.6(CHD1L):c.171C>T (p.Leu57=)	CHD1L	Single nucleotide variant (5 prime UTR variant +3 more)	CHD1L-related condition	GLikely benign
Select item 3032505	NM_004284.6(CHD1L):c.2176C>A (p.His726Asn)	CHD1L (H445N +7 more)	Single nucleotide variant (missense variant +1 more)	CHD1L-related condition	GUncertain significance
Select item 3032347	NM_004284.6(CHD1L):c.2175C>G (p.Thr725=)	CHD1L	Single nucleotide variant (synonymous variant +1 more)	CHD1L-related condition	GLikely benign
Select item 3031878	NM_004284.6(CHD1L):c.1706-6del	CHD1L	Deletion (intron variant)	CHD1L-related condition	GLikely benign
Select item 3024561	GRCh37/hg19 1q21.1-21.2(chr1:145421717-148193211)	ACP6, ANKRD34A +23 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 2688771	NM_004284.6(CHD1L):c.2364del (p.Glu789fs)	CHD1L (E508fs +7 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2688770	NM_004284.6(CHD1L):c.762G>T (p.Leu254Phe)	CHD1L (L102F +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2688769	NM_004284.6(CHD1L):c.676dup (p.Ser226fs)	CHD1L (S113fs +5 more)	Duplication (frameshift variant +3 more)	not provided	GUncertain significance
Select item 2685826	GRCh37/hg19 1q21.1-21.2(chr1:146577645-147391923)x3	ACP6, BCL9 +5 more	Copy number gain	not provided	GPathogenic
Select item 2685825	GRCh37/hg19 1q21.1-21.2(chr1:146043714-147819815)x3	ACP6, BCL9 +8 more	Copy number gain	not provided	GPathogenic
Select item 2685654	GRCh37/hg19 1q21.1-21.2(chr1:146470888-147473821)x1	ACP6, BCL9 +6 more	Copy number loss	not provided	GPathogenic
Select item 2685643	GRCh37/hg19 1q21.1-21.2(chr1:145769109-148216113)x1	ACP6, BCL9 +10 more	Copy number loss	not provided	GPathogenic
Select item 2685599	GRCh37/hg19 1q21.1-21.2(chr1:145311525-147509544)x1	ACP6, ANKRD34A +25 more	Copy number loss	not provided	GPathogenic
Select item 2672346	NM_004284.6(CHD1L):c.812C>T (p.Pro271Leu)	CHD1L (P108L +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2665054	GRCh38/hg38 1q21.1-21.2(chr1:146872717-148353641)	ACP6, BCL9 +59 more	Copy number loss	1q21.1 microdeletion syndrome (BP3-BP4, distal)	GPathogenic
Select item 2639120	NM_004284.6(CHD1L):c.1962A>G (p.Arg654=)	CHD1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2633817	NM_004284.6(CHD1L):c.1782A>T (p.Gln594His)	CHD1L (Q313H +7 more)	Single nucleotide variant (missense variant +1 more)	CHD1L-related condition	GUncertain significance
Select item 2619866	NM_004284.6(CHD1L):c.829G>A (p.Val277Met)	CHD1L (V114M +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2616251	NM_004284.6(CHD1L):c.2266G>C (p.Glu756Gln)	CHD1L (E475Q +7 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614668	NM_004284.6(CHD1L):c.2212C>A (p.His738Asn)	CHD1L (H575N +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607914	NM_001461.4(FMO5):c.592G>A (p.Gly198Arg)	CHD1L, FMO5 (G198R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604277	NM_004284.6(CHD1L):c.587T>C (p.Val196Ala)	CHD1L (V196A +5 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2598190	NM_001461.4(FMO5):c.67G>A (p.Val23Ile)	CHD1L, FMO5 (V23I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597839	NM_004284.6(CHD1L):c.1469C>T (p.Thr490Ile)	CHD1L (T286I +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2594157	NM_001461.4(FMO5):c.1421G>A (p.Arg474His)	CHD1L, FMO5 (R474H)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2594121	NM_001461.4(FMO5):c.524G>A (p.Arg175Gln)	CHD1L, FMO5 (R175Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593192	NM_001461.4(FMO5):c.1382T>C (p.Leu461Ser)	CHD1L, FMO5 (L461S)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2593042	NM_001461.4(FMO5):c.1591G>C (p.Ala531Pro)	FMO5, CHD1L (A531P)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2588813	NM_004284.6(CHD1L):c.463A>T (p.Ile155Phe)	CHD1L (I55F +3 more)	Single nucleotide variant (intron variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2588575	NM_001461.4(FMO5):c.1159C>T (p.Arg387Cys)	CHD1L, FMO5 (R387C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2580347	GRCh37/hg19 1q21.1-21.2(chr1:145883619-147817082)x3	ACP6, BCL9 +8 more	Copy number gain	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2580307	GRCh37/hg19 1q21.1-21.2(chr1:145883619-147594599)x1	ACP6, BCL9 +8 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 2580296	GRCh37/hg19 1q21.1-21.2(chr1:146474687-147415708)x1	ACP6, BCL9 +6 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 2578608	GRCh37/hg19 1q21.1-21.2(chr1:146057275-147581622)x1	NBPF11, NBPF12 +8 more	Copy number loss	not provided	GPathogenic
Select item 2559486	NM_001461.4(FMO5):c.904G>C (p.Gly302Arg)	CHD1L, FMO5 (G302R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551929	NM_004284.6(CHD1L):c.2657A>T (p.Gln886Leu)	CHD1L (Q773L +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549978	NM_004284.6(CHD1L):c.1337A>G (p.Gln446Arg)	CHD1L (Q333R +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549845	NM_004284.6(CHD1L):c.1597A>G (p.Met533Val)	CHD1L (M433V +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545889	NM_001461.4(FMO5):c.106G>T (p.Asp36Tyr)	CHD1L, FMO5 (D36Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2543257	NM_004284.6(CHD1L):c.47T>A (p.Phe16Tyr)	CHD1L, LOC129931354 (F16Y)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2537805	NM_004284.6(CHD1L):c.17C>G (p.Ala6Gly)	CHD1L, LOC129931354 (A6G)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2528772	NM_004284.6(CHD1L):c.2218G>C (p.Val740Leu)	CHD1L (V459L +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523908	NM_001461.4(FMO5):c.1408C>G (p.Pro470Ala)	CHD1L, FMO5 (P470A)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2522787	NM_001461.4(FMO5):c.262G>A (p.Val88Ile)	CHD1L, FMO5 (V88I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519345	NM_004284.6(CHD1L):c.2518C>T (p.Leu840Phe)	CHD1L (L559F +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511293	NM_004284.6(CHD1L):c.1843A>T (p.Asn615Tyr)	CHD1L (N334Y +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511209	NM_001461.4(FMO5):c.443C>A (p.Thr148Asn)	CHD1L, FMO5 (T148N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2506525	GRCh37/hg19 1q21.1-21.2(chr1:146465878-147416212)	BCL9, ACP6 +7 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2498453	GRCh37/hg19 1q21.1-21.2(chr1:146405854-147597284)x1	ACP6, PRKAB2 +7 more	Copy number loss	not provided	GPathogenic
Select item 2494799	NM_001461.4(FMO5):c.244T>C (p.Phe82Leu)	CHD1L, FMO5 (F82L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493619	NM_001461.4(FMO5):c.1375C>G (p.Leu459Val)	CHD1L, FMO5 (L459V)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2485924	NM_001461.4(FMO5):c.1261G>A (p.Val421Met)	CHD1L, FMO5 (V421M)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2482272	NM_001461.4(FMO5):c.842A>G (p.Gln281Arg)	CHD1L, FMO5 (Q281R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2466827	NM_001461.4(FMO5):c.173C>T (p.Ser58Leu)	CHD1L, FMO5 (S58L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2461899	NM_001461.4(FMO5):c.528C>G (p.Asp176Glu)	CHD1L, FMO5 (D176E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2461451	NM_004284.6(CHD1L):c.307C>T (p.Pro103Ser)	CHD1L (P31S +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2445223	Single allele	ACP6, BCL9 +9 more	Duplication	See cases	GPathogenic
Select item 2425333	NC_000001.10:g.(?_146714354)_(147381384_?)del	GJA5, CHD1L +3 more	Deletion	Cataract 1 multiple types	GPathogenic
Select item 2410646	NM_001461.4(FMO5):c.516C>A (p.Phe172Leu)	CHD1L, FMO5 (F172L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406030	NM_004284.6(CHD1L):c.605C>T (p.Thr202Ile)	CHD1L (T130I +5 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2403766	NM_004284.6(CHD1L):c.35A>G (p.Gln12Arg)	CHD1L, LOC129931354 (Q12R)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2396431	NM_001461.4(FMO5):c.401G>A (p.Gly134Glu)	CHD1L, FMO5 (G134E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388652	NM_004284.6(CHD1L):c.2452G>A (p.Ala818Thr)	CHD1L, LOC126805854 (A746T +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382383	NM_004284.6(CHD1L):c.1595C>T (p.Thr532Ile)	CHD1L (T328I +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372343	NM_004284.6(CHD1L):c.2453C>T (p.Ala818Val)	CHD1L, LOC126805854 (A537V +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2371544	NM_001461.4(FMO5):c.968T>C (p.Ile323Thr)	CHD1L, FMO5 (I323T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370696	NM_001461.4(FMO5):c.874C>T (p.Arg292Cys)	CHD1L, FMO5 (R292C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370653	NM_001461.4(FMO5):c.1477G>A (p.Asp493Asn)	CHD1L, FMO5 (D493N)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2366920	NM_004284.6(CHD1L):c.1415G>A (p.Arg472Gln)	CHD1L (R191Q +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2362693	NM_001461.4(FMO5):c.940T>A (p.Phe314Ile)	CHD1L, FMO5 (F314I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342689	NM_004284.6(CHD1L):c.433C>T (p.Arg145Cys)	CHD1L (R73C +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2341263	NM_004284.6(CHD1L):c.983T>G (p.Phe328Cys)	CHD1L (F124C +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335278	NM_001461.4(FMO5):c.31G>A (p.Gly11Arg)	CHD1L, FMO5 (G11R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323241	NM_004284.6(CHD1L):c.2180C>G (p.Pro727Arg)	CHD1L (P564R +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320028	NM_001461.4(FMO5):c.1418A>G (p.Tyr473Cys)	CHD1L, FMO5 (Y473C)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2317585	NM_004284.6(CHD1L):c.2524C>T (p.Arg842Cys)	CHD1L (R638C +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308209	NM_001461.4(FMO5):c.1162T>C (p.Trp388Arg)	CHD1L, FMO5 (W388R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305146	NM_004284.6(CHD1L):c.1706A>G (p.Lys569Arg)	CHD1L (K456R +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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