ClinVar for MedGen (Select 1639061) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3591242	NM_025074.7(FRAS1):c.12011A>G (p.Asn4004Ser)	FRAS1 (N4004S)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591241	NM_025074.7(FRAS1):c.12010A>T (p.Asn4004Tyr)	FRAS1 (N4004Y)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591240	NM_025074.7(FRAS1):c.12005T>C (p.Val4002Ala)	FRAS1 (V4002A)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591239	NM_025074.7(FRAS1):c.11960C>T (p.Thr3987Met)	FRAS1 (T3987M)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591238	NM_025074.7(FRAS1):c.11950G>A (p.Ala3984Thr)	FRAS1 (A3984T)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591237	NM_025074.7(FRAS1):c.11933T>C (p.Ile3978Thr)	FRAS1 (I3978T)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591235	NM_025074.7(FRAS1):c.11864_11872del (p.Pro3955_Arg3957del)	FRAS1	Deletion	Fraser syndrome 1	GUncertain significance
Select item 3591234	NM_025074.7(FRAS1):c.11820G>C (p.Glu3940Asp)	FRAS1 (E3940D)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591233	NM_025074.7(FRAS1):c.11740A>G (p.Met3914Val)	FRAS1 (M3914V)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591232	NM_025074.7(FRAS1):c.11735C>A (p.Ala3912Glu)	FRAS1 (A3912E)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591231	NM_025074.7(FRAS1):c.11513C>T (p.Pro3838Leu)	FRAS1 (P3838L)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591230	NM_025074.7(FRAS1):c.11503A>G (p.Ile3835Val)	FRAS1 (I3835V)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591229	NM_025074.7(FRAS1):c.11449del (p.Glu3817fs)	FRAS1 (E3817fs)	Deletion (frameshift variant)	Fraser syndrome 1	GLikely pathogenic
Select item 3591228	NM_025074.7(FRAS1):c.11336A>G (p.His3779Arg)	FRAS1 (H3779R)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591227	NM_025074.7(FRAS1):c.11184G>A (p.Thr3728=)	FRAS1	Single nucleotide variant (synonymous variant)	Fraser syndrome 1	GUncertain significance
Select item 3591225	NM_025074.7(FRAS1):c.11174A>G (p.Tyr3725Cys)	FRAS1 (Y3725C)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591224	NM_025074.7(FRAS1):c.11104del (p.Tyr3702fs)	FRAS1 (Y3702fs)	Deletion (frameshift variant)	Fraser syndrome 1	GLikely pathogenic
Select item 3591223	NM_025074.7(FRAS1):c.11092+1G>A	FRAS1, LOC126807089	Single nucleotide variant (splice donor variant)	Fraser syndrome 1	GLikely pathogenic
Select item 3591222	NM_025074.7(FRAS1):c.11091A>C (p.Lys3697Asn)	FRAS1, LOC126807089 (K3697N)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591221	NM_025074.7(FRAS1):c.11073C>A (p.Tyr3691Ter)	LOC126807089, FRAS1 (Y3691*)	Single nucleotide variant (nonsense)	Fraser syndrome 1	GLikely pathogenic
Select item 3591220	NM_025074.7(FRAS1):c.11070T>G (p.Asp3690Glu)	LOC126807089, FRAS1 (D3690E)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591219	NM_025074.7(FRAS1):c.11030T>G (p.Met3677Arg)	FRAS1, LOC126807089 (M3677R)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591218	NM_025074.7(FRAS1):c.11008A>G (p.Asn3670Asp)	FRAS1, LOC126807089 (N3670D)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591217	NM_025074.7(FRAS1):c.10976T>G (p.Val3659Gly)	FRAS1, LOC126807089 (V3659G)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591216	NM_025074.7(FRAS1):c.10888G>C (p.Glu3630Gln)	FRAS1 (E3630Q)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591215	NM_025074.7(FRAS1):c.10861C>G (p.Pro3621Ala)	FRAS1 (P3621A)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591214	NM_025074.7(FRAS1):c.10858C>T (p.Gln3620Ter)	FRAS1 (Q3620*)	Single nucleotide variant (nonsense)	Fraser syndrome 1	GLikely pathogenic
Select item 3591213	NM_025074.7(FRAS1):c.10830C>G (p.Tyr3610Ter)	FRAS1 (Y3610*)	Single nucleotide variant (nonsense)	Fraser syndrome 1	GLikely pathogenic
Select item 3591212	NM_025074.7(FRAS1):c.10825G>A (p.Glu3609Lys)	FRAS1 (E3609K)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591211	NM_025074.7(FRAS1):c.10778A>C (p.Gln3593Pro)	FRAS1 (Q3593P)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591210	NM_025074.7(FRAS1):c.10768T>A (p.Ser3590Thr)	FRAS1 (S3590T)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591209	NM_025074.7(FRAS1):c.10725T>G (p.Ile3575Met)	FRAS1 (I3575M)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591208	NM_025074.7(FRAS1):c.10720G>A (p.Gly3574Arg)	FRAS1 (G3574R)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591207	NM_025074.7(FRAS1):c.10717G>A (p.Gly3573Arg)	FRAS1 (G3573R)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591206	NM_025074.7(FRAS1):c.10648+3A>G	FRAS1	Single nucleotide variant (intron variant)	Fraser syndrome 1	GUncertain significance
Select item 3591205	NM_025074.7(FRAS1):c.10626C>G (p.Phe3542Leu)	FRAS1 (F3542L)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591204	NM_025074.7(FRAS1):c.10605T>A (p.Asp3535Glu)	FRAS1 (D3535E)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591203	NM_025074.7(FRAS1):c.10600G>A (p.Glu3534Lys)	FRAS1 (E3534K)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591202	NM_025074.7(FRAS1):c.10501G>C (p.Glu3501Gln)	FRAS1 (E3501Q)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591200	NM_025074.7(FRAS1):c.10396G>A (p.Asp3466Asn)	FRAS1 (D3466N)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591199	NM_025074.7(FRAS1):c.10372G>A (p.Val3458Ile)	FRAS1 (V3458I)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591198	NM_025074.7(FRAS1):c.10353T>G (p.Ile3451Met)	FRAS1 (I3451M)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591197	NM_025074.7(FRAS1):c.10334A>G (p.Tyr3445Cys)	FRAS1 (Y3445C)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591196	NM_025074.7(FRAS1):c.10262G>A (p.Arg3421Gln)	FRAS1 (R3421Q)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591195	NM_025074.7(FRAS1):c.10225G>A (p.Gly3409Ser)	FRAS1 (G3409S)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591193	NM_025074.7(FRAS1):c.10181G>A (p.Gly3394Glu)	FRAS1 (G3394E)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591192	NM_025074.7(FRAS1):c.10111A>G (p.Ile3371Val)	FRAS1 (I3371V)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591191	NM_025074.7(FRAS1):c.10093T>G (p.Phe3365Val)	FRAS1 (F3365V)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591190	NM_025074.7(FRAS1):c.10081C>T (p.His3361Tyr)	FRAS1 (H3361Y)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591189	NM_025074.7(FRAS1):c.10034T>C (p.Ile3345Thr)	FRAS1 (I3345T)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591188	NM_025074.7(FRAS1):c.10020C>T (p.His3340=)	FRAS1	Single nucleotide variant (synonymous variant)	Fraser syndrome 1	GUncertain significance
Select item 3591187	NM_025074.7(FRAS1):c.10013G>A (p.Arg3338Lys)	FRAS1 (R3338K)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591186	NM_025074.7(FRAS1):c.9992A>T (p.Lys3331Ile)	FRAS1 (K3331I)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591185	NM_025074.7(FRAS1):c.9989T>C (p.Val3330Ala)	FRAS1 (V3330A)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591184	NM_025074.7(FRAS1):c.9959C>T (p.Ser3320Phe)	FRAS1 (S3320F)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591183	NM_025074.7(FRAS1):c.9952G>T (p.Ala3318Ser)	FRAS1 (A3318S)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591182	NM_025074.7(FRAS1):c.9901A>G (p.Ser3301Gly)	FRAS1 (S3301G)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591181	NM_025074.7(FRAS1):c.9899A>G (p.Asp3300Gly)	FRAS1 (D3300G)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591180	NM_025074.7(FRAS1):c.9874A>G (p.Ser3292Gly)	FRAS1 (S3292G)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591179	NM_025074.7(FRAS1):c.9860G>A (p.Gly3287Glu)	FRAS1 (G3287E)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591178	NM_025074.7(FRAS1):c.9790A>G (p.Ser3264Gly)	FRAS1 (S3264G)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591177	NM_025074.7(FRAS1):c.9701C>T (p.Ala3234Val)	FRAS1 (A3234V)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591176	NM_025074.7(FRAS1):c.9693A>G (p.Glu3231=)	FRAS1	Single nucleotide variant (synonymous variant)	Fraser syndrome 1	GUncertain significance
Select item 3591175	NM_025074.7(FRAS1):c.9690G>C (p.Trp3230Cys)	FRAS1 (W3230C)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591174	NM_025074.7(FRAS1):c.9664A>G (p.Asn3222Asp)	FRAS1 (N3222D)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591173	NM_025074.7(FRAS1):c.9650G>A (p.Ser3217Asn)	FRAS1 (S3217N)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591172	NM_025074.7(FRAS1):c.9514C>G (p.Leu3172Val)	FRAS1 (L3172V)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591170	NM_025074.7(FRAS1):c.9496C>T (p.Pro3166Ser)	FRAS1 (P3166S)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591169	NM_025074.7(FRAS1):c.9392T>C (p.Val3131Ala)	FRAS1 (V3131A)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591168	NM_025074.7(FRAS1):c.9379T>G (p.Ser3127Ala)	FRAS1 (S3127A)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591167	NM_025074.7(FRAS1):c.9379T>C (p.Ser3127Pro)	FRAS1 (S3127P)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591166	NM_025074.7(FRAS1):c.9359A>C (p.Glu3120Ala)	FRAS1 (E3120A)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591165	NM_025074.7(FRAS1):c.9316+1G>A	FRAS1	Single nucleotide variant (splice donor variant)	Fraser syndrome 1	GLikely pathogenic
Select item 3591164	NM_025074.7(FRAS1):c.9294C>A (p.Ser3098Arg)	FRAS1 (S3098R)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591163	NM_025074.7(FRAS1):c.9286C>G (p.Pro3096Ala)	FRAS1 (P3096A)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591162	NM_025074.7(FRAS1):c.9244A>G (p.Ser3082Gly)	FRAS1 (S3082G)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591161	NM_025074.7(FRAS1):c.9233A>G (p.Lys3078Arg)	FRAS1 (K3078R)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591160	NM_025074.7(FRAS1):c.9205C>T (p.Arg3069Cys)	FRAS1 (R3069C)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591159	NM_025074.7(FRAS1):c.9202A>T (p.Ile3068Phe)	FRAS1 (I3068F)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591158	NM_025074.7(FRAS1):c.9195C>G (p.Ile3065Met)	FRAS1 (I3065M)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591157	NM_025074.7(FRAS1):c.9193A>G (p.Ile3065Val)	FRAS1 (I3065V)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591156	NM_025074.7(FRAS1):c.9179T>C (p.Ile3060Thr)	FRAS1 (I3060T)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591155	NM_025074.7(FRAS1):c.9157G>A (p.Glu3053Lys)	FRAS1 (E3053K)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591154	NM_025074.7(FRAS1):c.9121del (p.Thr3041fs)	FRAS1 (T3041fs)	Deletion (frameshift variant)	Fraser syndrome 1	GLikely pathogenic
Select item 3591153	NM_025074.7(FRAS1):c.9088A>T (p.Thr3030Ser)	FRAS1 (T3030S)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591152	NM_025074.7(FRAS1):c.9041T>C (p.Leu3014Pro)	FRAS1 (L3014P)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591151	NM_025074.7(FRAS1):c.8985C>G (p.His2995Gln)	FRAS1 (H2995Q)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591150	NM_025074.7(FRAS1):c.8974G>T (p.Val2992Phe)	FRAS1 (V2992F)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591149	NM_025074.7(FRAS1):c.8959-17T>A	FRAS1	Single nucleotide variant (intron variant)	Fraser syndrome 1	GUncertain significance
Select item 3591148	NM_025074.7(FRAS1):c.8958+5G>C	FRAS1	Single nucleotide variant (intron variant)	Fraser syndrome 1	GUncertain significance
Select item 3591147	NM_025074.7(FRAS1):c.8958+1G>A	FRAS1	Single nucleotide variant (splice donor variant)	Fraser syndrome 1	GLikely pathogenic
Select item 3591146	NM_025074.7(FRAS1):c.8884G>A (p.Ala2962Thr)	FRAS1 (A2962T)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591145	NM_025074.7(FRAS1):c.8873A>C (p.Gln2958Pro)	FRAS1 (Q2958P)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591144	NM_025074.7(FRAS1):c.8857G>T (p.Val2953Leu)	FRAS1 (V2953L)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591143	NM_025074.7(FRAS1):c.8830A>T (p.Ser2944Cys)	FRAS1 (S2944C)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591142	NM_025074.7(FRAS1):c.8821A>G (p.Ile2941Val)	FRAS1 (I2941V)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591141	NM_025074.7(FRAS1):c.8800G>A (p.Glu2934Lys)	FRAS1 (E2934K)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591140	NM_025074.7(FRAS1):c.8759G>A (p.Ser2920Asn)	FRAS1 (S2920N)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591139	NM_025074.7(FRAS1):c.8701C>G (p.Leu2901Val)	FRAS1 (L2901V)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 3591138	NM_025074.7(FRAS1):c.8668G>A (p.Val2890Met)	FRAS1 (V2890M)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance

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