ClinVar for MedGen (Select 439) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3775798	NM_000051.4(ATM):c.3994-161_3994-158del	ATM	Deletion (intron variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3730779	NM_000051.4(ATM):c.7308-18T>G	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3730666	NM_000051.4(ATM):c.8011-17G>A	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3729913	NM_000051.4(ATM):c.1527A>G (p.Gly509=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3729613	NM_000051.4(ATM):c.7138A>T (p.Arg2380Ter)	ATM, C11orf65 (R2380*)	Single nucleotide variant (nonsense +1 more)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3729560	NM_000051.4(ATM):c.2662del (p.Glu888fs)	ATM (E888fs)	Deletion (frameshift variant)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3729387	NM_000051.4(ATM):c.7688_7689delinsAG (p.Leu2563Ter)	ATM, C11orf65 (L2563*)	Indel (nonsense +1 more)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3729177	NM_000051.4(ATM):c.1371A>G (p.Arg457=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3729085	NM_000051.4(ATM):c.3806_3811del (p.Lys1269_Ser1270del)	ATM	Deletion	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3728850	NM_000051.4(ATM):c.5178-11del	ATM	Deletion (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3728766	NM_000051.4(ATM):c.5177+2dup	ATM	Duplication (splice donor variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3728762	NM_000051.4(ATM):c.6837dup (p.Gln2280fs)	ATM, C11orf65 (Q2280fs)	Duplication (frameshift variant +1 more)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3728674	NM_000051.4(ATM):c.4463dup (p.Leu1488fs)	ATM (L1488fs)	Duplication (frameshift variant)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3728430	NM_000051.4(ATM):c.1803-9dup	ATM	Duplication (intron variant)	Ataxia-telangiectasia syndrome	GBenign
Select item 3728385	NM_000051.4(ATM):c.5177+19C>T	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3728088	NM_000051.4(ATM):c.654G>A (p.Gln218=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3728087	NM_000051.4(ATM):c.2852del (p.Leu950_Leu951insTer)	ATM	Deletion (nonsense)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3728055	NM_000051.4(ATM):c.405T>A (p.Ala135=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3727936	NM_000051.4(ATM):c.2413_2414delinsTT (p.Arg805Leu)	ATM (R805L)	Indel (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3727723	NM_000051.4(ATM):c.8197C>T (p.Gln2733Ter)	ATM, C11orf65 (Q2733*)	Single nucleotide variant (nonsense +1 more)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3727656	NM_000051.4(ATM):c.1988T>A (p.Leu663Ter)	ATM (L663*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3727652	NM_000051.4(ATM):c.6198+13C>G	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3727563	NM_000051.4(ATM):c.8418+2T>G	ATM, C11orf65	Single nucleotide variant (splice donor variant +1 more)	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 3727553	NM_000051.4(ATM):c.2690del (p.Phe897fs)	ATM (F897fs)	Deletion (frameshift variant)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3727041	NM_000051.4(ATM):c.9094del (p.Gln3031_Val3032insTer)	ATM, C11orf65	Deletion (nonsense +1 more)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3726944	NM_000051.4(ATM):c.2638+9_2638+18dup	ATM	Duplication (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3726835	NM_000051.4(ATM):c.1898+11T>A	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3726830	NM_000051.4(ATM):c.721_722insT (p.Lys241fs)	ATM (K241fs)	Insertion (frameshift variant)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3726459	NM_000051.4(ATM):c.4809T>A (p.Tyr1603Ter)	ATM (Y1603*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3726345	NM_000051.4(ATM):c.5762+19C>G	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3726264	NM_000051.4(ATM):c.1784_1785del (p.Val595fs)	ATM (V595fs)	Deletion (frameshift variant)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3726207	NM_000051.4(ATM):c.3077+19_3077+31del	ATM	Deletion (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3725943	NM_000051.4(ATM):c.6002del (p.Leu2001fs)	ATM, C11orf65 (L2001fs)	Deletion (frameshift variant +1 more)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3725807	NM_000051.4(ATM):c.2808A>T (p.Leu936=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3725759	NM_000051.4(ATM):c.8671+11A>G	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3725321	NM_000051.4(ATM):c.571dup (p.Ile191fs)	ATM (I191fs)	Duplication (frameshift variant)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3725072	NM_000051.4(ATM):c.6423T>A (p.Ser2141=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3724979	NM_000051.4(ATM):c.6579C>T (p.Val2193=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3724943	NM_000051.4(ATM):c.8010+16C>T	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3724814	NM_000051.4(ATM):c.1898+10C>A	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3724497	NM_000051.4(ATM):c.2351del (p.Thr784fs)	ATM (T784fs)	Deletion (frameshift variant)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3724472	NM_000051.4(ATM):c.6991_6997del (p.Lys2331fs)	ATM, C11orf65 (K2331fs)	Deletion (frameshift variant +1 more)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3724397	NM_000051.4(ATM):c.3183_3184insCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAATGGGCCATTCTT (p.Leu1061_Asn1062insGlnLeuLeuGlyArgLeuArgGlnGluAsnGlyValAsnProGlySerGlyAlaCysSerGluProArgLeuArgXaaXaaXaaLysLysLysLysLysLysLysLysTrpAlaIleLeu)	ATM	Microsatellite	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3724394	NM_000051.4(ATM):c.8274T>A (p.Val2758=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3724353	NM_000051.4(ATM):c.3576+9G>A	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3723911	NM_000051.4(ATM):c.6469G>T (p.Glu2157Ter)	ATM, C11orf65 (E2157*)	Single nucleotide variant (nonsense +1 more)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3723858	NM_000051.4(ATM):c.5319+6T>G	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3723590	NM_000051.4(ATM):c.3027_3028del (p.Asn1010fs)	ATM (N1010fs)	Microsatellite (frameshift variant)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3723574	NM_000051.4(ATM):c.6165C>T (p.Ile2055=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3723264	NM_000051.4(ATM):c.72_72+17del	ATM	Deletion (splice donor variant)	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 3723014	NM_000051.4(ATM):c.8394C>G (p.Ala2798=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3722906	NM_000051.4(ATM):c.3280_3281del (p.Ile1093_Asn1094insTer)	ATM	Deletion (nonsense)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3722899	NM_000051.4(ATM):c.9093del (p.Gln3031_Val3032insTer)	ATM, C11orf65	Deletion (frameshift variant +1 more)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3722894	NM_000051.4(ATM):c.824_825insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGATTCTTT (p.Leu275delinsPhePhePhePhePhePhePheXaaXaaXaaXaaAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)	ATM	Insertion (nonsense)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3722730	NM_000051.4(ATM):c.332-5A>G	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3722553	NM_000051.4(ATM):c.2638+7A>C	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3722509	NM_000051.4(ATM):c.8152-2A>C	ATM, C11orf65	Single nucleotide variant (splice acceptor variant +1 more)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3722507	NM_000051.4(ATM):c.8082del (p.Gly2695fs)	ATM, C11orf65 (G2695fs)	Deletion (frameshift variant +1 more)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3722304	NM_000051.4(ATM):c.6094A>G (p.Arg2032Gly)	ATM, C11orf65 (R2032G)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3721986	NM_000051.4(ATM):c.5771del (p.Ser1923_Ser1924insTer)	ATM, C11orf65	Deletion (nonsense +1 more)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3721968	NM_000051.4(ATM):c.2277dup (p.Ile760fs)	ATM (I760fs)	Duplication (frameshift variant)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3721363	NM_000051.4(ATM):c.3267del (p.Ala1090fs)	ATM (A1090fs)	Deletion (frameshift variant)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3721361	NM_000051.4(ATM):c.3079C>A (p.His1027Asn)	ATM (H1027N)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3721360	NM_000051.4(ATM):c.4176T>C (p.Tyr1392=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3721091	NM_000051.4(ATM):c.8947dup (p.Thr2983fs)	ATM, C11orf65 (T2983fs)	Duplication (frameshift variant +1 more)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3721090	NM_000051.4(ATM):c.8711_8716del (p.Glu2904_Thr2905del)	ATM, C11orf65	Deletion (intron variant)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3721088	NM_000051.4(ATM):c.5653del (p.Thr1885fs)	ATM (T1885fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic
Select item 3721087	NM_000051.4(ATM):c.5496+2T>C	ATM	Single nucleotide variant (splice donor variant)	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 3721086	NM_000051.4(ATM):c.5260_5264del (p.Lys1754fs)	ATM (K1754fs)	Deletion (frameshift variant)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3720493	NM_000051.4(ATM):c.8978G>C (p.Arg2993Pro)	ATM, C11orf65 (R2993P)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3720491	NM_000051.4(ATM):c.8886G>C (p.Met2962Ile)	ATM, C11orf65 (M2962I)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3720489	NM_000051.4(ATM):c.8600G>C (p.Gly2867Ala)	ATM, C11orf65 (G2867A)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3720488	NM_000051.4(ATM):c.8494C>A (p.Arg2832Ser)	ATM, C11orf65 (R2832S)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GConflicting classifications of pathogenicity
Select item 3720487	NM_000051.4(ATM):c.8362C>T (p.His2788Tyr)	ATM, C11orf65 (H2788Y)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3720486	NM_000051.4(ATM):c.8357G>T (p.Gly2786Val)	ATM, C11orf65 (G2786V)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3720484	NM_000051.4(ATM):c.8252C>T (p.Thr2751Ile)	ATM, C11orf65 (T2751I)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3720483	NM_000051.4(ATM):c.8119T>G (p.Ser2707Ala)	ATM, C11orf65 (S2707A)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3720481	NM_000051.4(ATM):c.8105T>A (p.Ile2702Lys)	C11orf65, ATM (I2702K)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 3720479	NM_000051.4(ATM):c.7857T>A (p.Ser2619Arg)	ATM, C11orf65 (S2619R)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3720478	NM_000051.4(ATM):c.7733C>T (p.Ala2578Val)	ATM, C11orf65 (A2578V)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3720477	NM_000051.4(ATM):c.7460T>C (p.Leu2487Pro)	ATM, C11orf65 (L2487P)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3720476	NM_000051.4(ATM):c.7412T>C (p.Ile2471Thr)	C11orf65, ATM (I2471T)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3720474	NM_000051.4(ATM):c.7098A>T (p.Glu2366Asp)	C11orf65, ATM (E2366D)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3720473	NM_000051.4(ATM):c.7037C>A (p.Ala2346Glu)	ATM, C11orf65 (A2346E)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3720472	NM_000051.4(ATM):c.6967T>C (p.Cys2323Arg)	ATM, C11orf65 (C2323R)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3720471	NM_000051.4(ATM):c.6688A>G (p.Ile2230Val)	ATM, C11orf65 (I2230V)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3720470	NM_000051.4(ATM):c.6657T>A (p.Phe2219Leu)	C11orf65, ATM (F2219L)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3720468	NM_000051.4(ATM):c.6401C>T (p.Ser2134Phe)	C11orf65, ATM (S2134F)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3720467	NM_000051.4(ATM):c.6281A>C (p.Glu2094Ala)	ATM, C11orf65 (E2094A)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3720465	NM_000051.4(ATM):c.6073A>G (p.Lys2025Glu)	ATM, C11orf65 (K2025E)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3720464	NM_000051.4(ATM):c.5999G>C (p.Ser2000Thr)	ATM, C11orf65 (S2000T)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3720463	NM_000051.4(ATM):c.5779A>T (p.Ile1927Phe)	ATM, C11orf65 (I1927F)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3720462	NM_000051.4(ATM):c.5522T>A (p.Val1841Glu)	ATM (V1841E)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3720461	NM_000051.4(ATM):c.5511T>A (p.Phe1837Leu)	ATM (F1837L)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3720460	NM_000051.4(ATM):c.5127G>T (p.Gln1709His)	ATM (Q1709H)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3720459	NM_000051.4(ATM):c.4838G>A (p.Gly1613Glu)	ATM (G1613E)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3720458	NM_000051.4(ATM):c.4769T>C (p.Leu1590Pro)	ATM (L1590P)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3720457	NM_000051.4(ATM):c.4677T>G (p.Ile1559Met)	ATM (I1559M)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3720455	NM_000051.4(ATM):c.4152T>G (p.His1384Gln)	ATM (H1384Q)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3720454	NM_000051.4(ATM):c.4145C>A (p.Pro1382Gln)	ATM (P1382Q)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance

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