ClinVar for MedGen (Select 18013) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075932	NM_001042492.3(NF1):c.7970+2T>G	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 3075906	NM_001042492.3(NF1):c.3200_3201insATTTT (p.Asp1067fs)	NF1 (D1067fs)	Insertion (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 3075881	NM_001042492.3(NF1):c.3202_3203dup (p.Leu1068fs)	NF1 (L1068fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 3068263	NM_001042492.3(NF1):c.196_204+1del	NF1	Deletion (splice donor variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 3068215	NM_001042492.3(NF1):c.530T>C (p.Ile177Thr)	NF1 (I177T)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3067991	NM_001042492.3(NF1):c.4381_4382del (p.Met1461fs)	NF1 (M1440fs +1 more)	Microsatellite (frameshift variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3067989	NM_001042492.3(NF1):c.1074del (p.Phe358fs)	NF1 (F358fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3067837	NM_001042492.3(NF1):c.1628A>G (p.Gln543Arg)	NF1 (Q543R)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3066237	NM_001042492.3(NF1):c.6643-11_6643-7del	NF1	Deletion (intron variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3065616	NM_001042492.3(NF1):c.2774del (p.Glu924_Leu925insTer)	NF1	Deletion (nonsense)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 3065203	NM_001042492.3(NF1):c.391del (p.Ala131fs)	NF1 (A131fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 3064860	NM_001042492.3(NF1):c.7971_7988del (p.His2658_Ser2663del)	NF1	Deletion (inframe_deletion)	Neurofibromatosis, type 1	GUncertain significance
Select item 3064810	NM_001042492.3(NF1):c.2643_2647del (p.Met881fs)	NF1 (M881fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3062356	NM_001042492.3(NF1):c.5301del (p.Glu1768fs)	NF1 (E1747fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 3023095	NM_001042492.3(NF1):c.5181T>G (p.Pro1727=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1	GLikely benign
Select item 3022769	NM_001042492.3(NF1):c.7457+5G>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3022697	NM_001042492.3(NF1):c.4174-15A>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3021477	NM_001042492.3(NF1):c.419G>A (p.Gly140Glu)	NF1 (G140E)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3020649	NM_001042492.3(NF1):c.6258G>A (p.Leu2086=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1	GLikely benign
Select item 3019949	NM_001042492.3(NF1):c.8161-16C>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GLikely benign
Select item 3019948	NM_001042492.3(NF1):c.3974+14T>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GLikely benign
Select item 3019732	NM_001042492.3(NF1):c.1846-12A>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GLikely benign
Select item 3019509	NM_001042492.3(NF1):c.1721+15A>G	NF1 (Y579C)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 1	GLikely benign
Select item 3019234	NM_001042492.3(NF1):c.6007-8T>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GLikely benign
Select item 3019229	NM_001042492.3(NF1):c.6247C>T (p.Arg2083Cys)	NF1 (R2062C +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3018192	NM_001042492.3(NF1):c.4820A>G (p.Tyr1607Cys)	NF1 (Y1607C +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3018056	NM_001042492.3(NF1):c.6137T>G (p.Val2046Gly)	NF1 (V2025G +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3017778	NM_001042492.3(NF1):c.3114-14C>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GLikely benign
Select item 3017019	NM_001042492.3(NF1):c.3996T>A (p.Leu1332=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1	GLikely benign
Select item 3017010	NM_001042492.3(NF1):c.202A>G (p.Met68Val)	NF1 (M68V)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3016924	NM_001042492.3(NF1):c.7062+8A>T	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GLikely benign
Select item 3015589	NM_001042492.3(NF1):c.4235G>A (p.Arg1412Lys)	NF1 (R1391K +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 3015319	NM_001042492.3(NF1):c.6841G>A (p.Gly2281Arg)	NF1 (G2260R +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3015053	NM_001042492.3(NF1):c.3496+17G>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GLikely benign
Select item 3015028	NM_001042492.3(NF1):c.7870-4G>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GLikely benign
Select item 3014227	NM_001042492.3(NF1):c.4639G>A (p.Gly1547Ser)	NF1 (G1526S +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3014113	NM_001042492.3(NF1):c.60+3A>G	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Neurofibromatosis, type 1	GUncertain significance
Select item 3014057	NM_001042492.3(NF1):c.2412T>A (p.Ala804=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3013518	NM_001042492.3(NF1):c.6351C>G (p.Ser2117=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1	GLikely benign
Select item 3013424	NM_001042492.3(NF1):c.4836-8T>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GLikely benign
Select item 3012664	NM_001042492.3(NF1):c.7763A>T (p.Gln2588Leu)	NF1 (Q2567L +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3010294	NM_001042492.3(NF1):c.6792A>G (p.Ile2264Met)	NF1 (I2243M +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3009264	NM_001042492.3(NF1):c.1246C>G (p.Arg416Gly)	NF1 (R416G)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3008290	NM_001042492.3(NF1):c.2015G>A (p.Gly672Glu)	NF1 (G672E)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3008257	NM_001042492.3(NF1):c.7826T>C (p.Val2609Ala)	NF1 (V2588A +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3007903	NM_001042492.3(NF1):c.8502C>G (p.Ser2834Arg)	NF1 (S2813R +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3007860	NM_001042492.3(NF1):c.3540G>A (p.Met1180Ile)	NF1 (M1180I)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3007521	NM_001042492.3(NF1):c.4866G>T (p.Leu1622Phe)	NF1 (L1622F +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3006247	NM_001042492.3(NF1):c.3272A>G (p.Asp1091Gly)	NF1 (D1091G)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3005964	NM_001042492.3(NF1):c.6007-12T>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GLikely benign
Select item 3003334	NM_001042492.3(NF1):c.2016A>G (p.Gly672=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1	GLikely benign
Select item 3003183	NM_001042492.3(NF1):c.4684C>T (p.Leu1562Phe)	NF1 (L1541F +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3003182	NM_001042492.3(NF1):c.357T>C (p.His119=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1	GLikely benign
Select item 3003181	NM_001042492.3(NF1):c.321G>T (p.Thr107=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1	GLikely benign
Select item 3002958	NM_001042492.3(NF1):c.375T>C (p.Arg125=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1	GLikely benign
Select item 3002488	NM_001042492.3(NF1):c.4774A>G (p.Ile1592Val)	NF1 (I1592V +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3002313	NM_001042492.3(NF1):c.6705-13C>T	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GLikely benign
Select item 3002205	NM_001042492.3(NF1):c.2585C>T (p.Thr862Ile)	NF1 (T862I)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3002114	NM_001042492.3(NF1):c.6006+13C>T	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GLikely benign
Select item 3001705	NM_001042492.3(NF1):c.5280T>G (p.Thr1760=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1	GLikely benign
Select item 3001424	NM_001042492.3(NF1):c.6984C>G (p.Val2328=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1	GLikely benign
Select item 3000900	NM_001042492.3(NF1):c.2249C>T (p.Thr750Ile)	NF1 (T750I)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3000872	NM_001042492.3(NF1):c.7755del (p.Ser2586fs)	NF1 (S2565fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 3000416	NM_001042492.3(NF1):c.510C>G (p.Asp170Glu)	NF1 (D170E)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 2999967	NM_001042492.3(NF1):c.8160+20T>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GLikely benign
Select item 2999679	NM_001042492.3(NF1):c.5715C>G (p.Thr1905=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1	GLikely benign
Select item 2998180	NM_001042492.3(NF1):c.2391C>G (p.Ala797=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1	GLikely benign
Select item 2997572	NM_001042492.3(NF1):c.3556A>T (p.Ile1186Phe)	NF1 (I1186F)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 2997507	NM_001042492.3(NF1):c.3709-19G>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GLikely benign
Select item 2995588	NM_001042492.3(NF1):c.3266A>G (p.Glu1089Gly)	NF1 (E1089G)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 2995241	NM_001042492.3(NF1):c.6466T>C (p.Phe2156Leu)	NF1 (F2135L +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 2992973	NM_001042492.3(NF1):c.3477dup (p.Gly1160fs)	NF1 (G1160fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 2992921	NM_001042492.3(NF1):c.5487C>T (p.Thr1829=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1	GLikely benign
Select item 2992340	NM_001042492.3(NF1):c.1291G>T (p.Ala431Ser)	NF1 (A431S)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 2989776	NM_001042492.3(NF1):c.243C>G (p.Leu81=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1	GLikely benign
Select item 2988983	NM_001042492.3(NF1):c.6766A>G (p.Ser2256Gly)	NF1 (S2235G +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 2988633	NM_001042492.3(NF1):c.3226G>A (p.Val1076Ile)	NF1 (V1076I)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 2987991	NM_001042492.3(NF1):c.1002C>A (p.Ile334=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 2987242	NM_001042492.3(NF1):c.2297T>C (p.Ile766Thr)	NF1 (I766T)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 2987202	NM_001042492.3(NF1):c.5519C>G (p.Pro1840Arg)	NF1 (P1819R +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 2985899	NM_001042492.3(NF1):c.8498dup (p.Asn2833fs)	NF1 (N2833fs +1 more)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 2982883	NM_001042492.3(NF1):c.3807C>T (p.Asp1269=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1	GLikely benign
Select item 2982786	NM_001042492.3(NF1):c.4174-14C>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GLikely benign
Select item 2982379	NM_001042492.3(NF1):c.6306C>A (p.Tyr2102Ter)	NF1 (Y2081* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 2982377	NM_001042492.3(NF1):c.6236del (p.Ala2079fs)	NF1 (A2058fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 2982376	NM_001042492.3(NF1):c.5905C>T (p.Gln1969Ter)	NF1 (Q1948* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 2982372	NM_001042492.3(NF1):c.586+2T>G	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1	GPathogenic
Select item 2982001	NM_001042492.3(NF1):c.3149T>C (p.Met1050Thr)	NF1 (M1050T)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 2981862	NM_001042492.3(NF1):c.4431-19T>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GLikely benign
Select item 2981516	NM_001042492.3(NF1):c.3330T>G (p.Phe1110Leu)	NF1 (F1110L)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 2981322	NM_001042492.3(NF1):c.3114-16C>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GLikely benign
Select item 2981193	NM_001042492.3(NF1):c.631_632dup (p.Val212fs)	NF1 (V212fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 2980096	NM_001042492.3(NF1):c.7399T>G (p.Ser2467Ala)	NF1 (S2446A +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 2979147	NM_001042492.3(NF1):c.654+2dup	NF1	Duplication (splice donor variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 2977906	NM_001042492.3(NF1):c.1846-13T>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GLikely benign
Select item 2977707	NM_001042492.3(NF1):c.889-9A>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 2977465	NM_001042492.3(NF1):c.4578-13T>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GLikely benign
Select item 2977148	NM_001042492.3(NF1):c.8113+14T>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GLikely benign
Select item 2976902	NM_001042492.3(NF1):c.4050C>T (p.Ile1350=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1	GLikely benign
Select item 2975561	NM_001042492.3(NF1):c.8501G>A (p.Ser2834Asn)	NF1 (S2834N +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance

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