ClinVar for MedGen (Select 894554) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3766957	NM_014423.4(AFF4):c.767A>C (p.Tyr256Ser)	AFF4 (Y256S)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely pathogenic
Select item 3730579	NM_014423.4(AFF4):c.3365-13T>C	AFF4	Single nucleotide variant (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3730106	NM_014423.4(AFF4):c.2796+9A>C	AFF4	Single nucleotide variant (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3730078	NM_014423.4(AFF4):c.3314A>G (p.Tyr1105Cys)	AFF4 (Y1105C)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3721481	NM_014423.4(AFF4):c.3246A>C (p.Ser1082=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3719268	NM_014423.4(AFF4):c.3005+17C>G	AFF4	Single nucleotide variant (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3719076	NM_014423.4(AFF4):c.1624A>G (p.Ser542Gly)	AFF4 (S542G)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3718044	NM_014423.4(AFF4):c.3487T>C (p.Ser1163Pro)	AFF4 (S1163P)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3715248	NM_014423.4(AFF4):c.1496C>T (p.Ser499Phe)	AFF4 (S499F)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3714271	NM_014423.4(AFF4):c.1838T>C (p.Ile613Thr)	AFF4 (I613T)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3711529	NM_014423.4(AFF4):c.1893G>A (p.Lys631=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3710627	NM_014423.4(AFF4):c.2637+4A>G	AFF4	Single nucleotide variant (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3710107	NM_014423.4(AFF4):c.340G>A (p.Ala114Thr)	AFF4 (A114T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3706861	NM_014423.4(AFF4):c.1389+14G>A	AFF4	Single nucleotide variant (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3706729	NM_014423.4(AFF4):c.2247G>T (p.Thr749=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3706463	NM_014423.4(AFF4):c.1386C>T (p.Pro462=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3703309	NM_014423.4(AFF4):c.2307+18G>A	AFF4	Single nucleotide variant (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3698896	NM_014423.4(AFF4):c.2307+17T>C	AFF4	Single nucleotide variant (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3698619	NM_014423.4(AFF4):c.359C>A (p.Ser120Tyr)	AFF4 (S120Y)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3697369	NM_014423.4(AFF4):c.2224A>G (p.Lys742Glu)	AFF4 (K742E)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3696337	NM_014423.4(AFF4):c.290A>G (p.Gln97Arg)	AFF4 (Q97R)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3694684	NM_014423.4(AFF4):c.124-13T>A	AFF4	Single nucleotide variant (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3693339	NM_014423.4(AFF4):c.989C>G (p.Pro330Arg)	AFF4 (P330R)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3692016	NM_014423.4(AFF4):c.1716G>A (p.Lys572=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3691423	NM_014423.4(AFF4):c.1520G>C (p.Arg507Pro)	AFF4 (R507P)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3689337	NM_014423.4(AFF4):c.2616C>T (p.Ser872=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3686092	NM_014423.4(AFF4):c.3364+7A>C	AFF4	Single nucleotide variant (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3684196	NM_014423.4(AFF4):c.964-5T>A	AFF4	Single nucleotide variant (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3681243	NM_014423.4(AFF4):c.457C>T (p.Arg153Cys)	AFF4 (R153C)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3681161	NM_014423.4(AFF4):c.2307+13T>A	AFF4	Single nucleotide variant (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3680467	NM_014423.4(AFF4):c.1848G>T (p.Glu616Asp)	AFF4 (E616D)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3678495	NM_014423.4(AFF4):c.285T>C (p.Phe95=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3674854	NM_014423.4(AFF4):c.2573G>A (p.Ser858Asn)	AFF4 (S858N)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3670550	NM_014423.4(AFF4):c.723A>G (p.Ser241=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3669728	NM_014423.4(AFF4):c.1646C>G (p.Ser549Cys)	AFF4 (S549C)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3669011	NM_014423.4(AFF4):c.2041G>A (p.Val681Met)	AFF4 (V681M)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3668955	NM_014423.4(AFF4):c.2308-20G>A	AFF4	Single nucleotide variant (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3668818	NM_014423.4(AFF4):c.2287A>C (p.Lys763Gln)	AFF4 (K763Q)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3668605	NM_014423.4(AFF4):c.937G>A (p.Val313Met)	AFF4 (V313M)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3667698	NM_014423.4(AFF4):c.2007C>G (p.Pro669=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GBenign
Select item 3665440	NM_014423.4(AFF4):c.1777G>T (p.Ala593Ser)	AFF4 (A593S)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3665230	NM_014423.4(AFF4):c.1515A>T (p.Glu505Asp)	AFF4 (E505D)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3655893	NM_014423.4(AFF4):c.1037C>T (p.Pro346Leu)	AFF4 (P346L)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3654405	NM_014423.4(AFF4):c.1188+11T>A	AFF4	Single nucleotide variant (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3652844	NM_014423.4(AFF4):c.3226G>A (p.Ala1076Thr)	AFF4 (A1076T)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3651091	NM_014423.4(AFF4):c.1128T>C (p.Ser376=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3649597	NM_014423.4(AFF4):c.2478A>C (p.Thr826=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3630627	NM_014423.4(AFF4):c.368G>A (p.Arg123Gln)	AFF4 (R123Q)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3626309	NM_014423.4(AFF4):c.3364+10T>A	AFF4	Single nucleotide variant (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3624540	NM_014423.4(AFF4):c.2128G>A (p.Asp710Asn)	AFF4 (D710N)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3621208	NM_014423.4(AFF4):c.1837A>G (p.Ile613Val)	AFF4 (I613V)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3618978	NM_014423.4(AFF4):c.84C>A (p.Phe28Leu)	AFF4 (F28L)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3610217	NM_014423.4(AFF4):c.1133+20A>G	AFF4	Single nucleotide variant (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3608776	NM_014423.4(AFF4):c.1976T>C (p.Leu659Pro)	AFF4 (L659P)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3608622	NM_014423.4(AFF4):c.3174T>A (p.Ser1058=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3607925	NM_014423.4(AFF4):c.3081A>G (p.Thr1027=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3604119	NM_014423.4(AFF4):c.697C>T (p.His233Tyr)	AFF4 (H233Y)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3603586	NM_014423.4(AFF4):c.2600C>A (p.Thr867Asn)	AFF4 (T867N)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3362861	NM_014423.4(AFF4):c.1252A>C (p.Ser418Arg)	AFF4 (S418R)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3358397	NM_014423.4(AFF4):c.1375A>C (p.Ser459Arg)	AFF4 (S459R)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome +1 more	GUncertain significance
Select item 3357761	NM_014423.4(AFF4):c.1154A>G (p.Lys385Arg)	AFF4 (K385R)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3352823	NM_014423.4(AFF4):c.3312C>T (p.Leu1104=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3350882	NM_014423.4(AFF4):c.1553C>A (p.Thr518Lys)	AFF4 (T518K)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3350812	NM_014423.4(AFF4):c.1226+10C>T	AFF4	Single nucleotide variant (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3347245	NM_014423.4(AFF4):c.2644G>T (p.Ala882Ser)	AFF4 (A882S)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3343134	NM_014423.4(AFF4):c.29G>A (p.Arg10His)	AFF4 (R10H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3338238	NM_014423.4(AFF4):c.1400C>G (p.Pro467Arg)	AFF4 (P467R)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3241979	NM_014423.4(AFF4):c.2417C>A (p.Ala806Glu)	AFF4 (A806E)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3236389	NM_014423.4(AFF4):c.2173A>G (p.Arg725Gly)	AFF4 (R725G)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3036116	NM_014423.4(AFF4):c.1464C>T (p.Pro488=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3035840	NM_014423.4(AFF4):c.3129G>A (p.Ser1043=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3034860	NM_014423.4(AFF4):c.3108T>C (p.Tyr1036=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3025310	NM_014423.4(AFF4):c.888C>T (p.Thr296=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome +1 more	GLikely benign
Select item 3019707	NM_014423.4(AFF4):c.19A>C (p.Asn7His)	AFF4 (N7H)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3018583	NM_014423.4(AFF4):c.2547G>C (p.Lys849Asn)	AFF4 (K849N)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3014016	NM_014423.4(AFF4):c.197T>C (p.Ile66Thr)	AFF4 (I66T)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3008224	NM_014423.4(AFF4):c.3358C>G (p.Gln1120Glu)	AFF4 (Q1120E)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3004649	NM_014423.4(AFF4):c.2934-19_2934-11del	AFF4	Deletion (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 2994269	NM_014423.4(AFF4):c.3425C>T (p.Thr1142Ile)	AFF4 (T1142I)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2991028	NM_014423.4(AFF4):c.1975C>T (p.Leu659Phe)	AFF4 (L659F)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2990099	NM_014423.4(AFF4):c.1133C>T (p.Ser378Phe)	AFF4 (S378F)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2984484	NM_014423.4(AFF4):c.3475G>A (p.Ala1159Thr)	AFF4 (A1159T)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2982490	NM_014423.4(AFF4):c.1918T>C (p.Ser640Pro)	AFF4 (S640P)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2982255	NM_014423.4(AFF4):c.1631G>A (p.Arg544His)	AFF4 (R544H)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2968173	NM_014423.4(AFF4):c.3093C>T (p.His1031=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 2967661	NM_014423.4(AFF4):c.2615C>G (p.Ser872Cys)	AFF4 (S872C)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2964277	NM_014423.4(AFF4):c.3289G>A (p.Val1097Ile)	AFF4 (V1097I)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2964039	NM_014423.4(AFF4):c.114A>T (p.Pro38=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 2963700	NM_014423.4(AFF4):c.1565A>C (p.Lys522Thr)	AFF4 (K522T)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2961721	NM_014423.4(AFF4):c.991C>G (p.Leu331Val)	AFF4 (L331V)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2958021	NM_014423.4(AFF4):c.2459C>G (p.Pro820Arg)	AFF4 (P820R)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2955517	NM_014423.4(AFF4):c.1226+18T>A	AFF4	Single nucleotide variant (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 2915168	NM_014423.4(AFF4):c.824A>G (p.Tyr275Cys)	AFF4 (Y275C)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2914314	NM_014423.4(AFF4):c.1673A>C (p.Gln558Pro)	AFF4 (Q558P)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2910613	NM_014423.4(AFF4):c.73G>A (p.Glu25Lys)	AFF4 (E25K)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2908210	NM_014423.4(AFF4):c.3365-17T>C	AFF4	Single nucleotide variant (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 2907899	NM_014423.4(AFF4):c.3015C>T (p.Cys1005=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 2905537	NM_014423.4(AFF4):c.2308-19G>A	AFF4	Single nucleotide variant (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 2903392	NM_014423.4(AFF4):c.2396+5G>A	AFF4	Single nucleotide variant (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2901346	NM_014423.4(AFF4):c.3210A>T (p.Ser1070=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign

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