ClinVar for MedGen (Select 894554) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 358

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	GPathogenic
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 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
Select item 2897125	NM_014423.4(AFF4):c.560T>C (p.Val187Ala)	AFF4 (V187A)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2897115	NM_014423.4(AFF4):c.498A>G (p.Lys166=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 2894901	NM_014423.4(AFF4):c.72C>T (p.Gly24=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 2894045	NM_014423.4(AFF4):c.1264G>T (p.Asp422Tyr)	AFF4 (D422Y)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2891950	NM_014423.4(AFF4):c.1226+12T>C	AFF4	Single nucleotide variant (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2891364	NM_014423.4(AFF4):c.3166C>G (p.Pro1056Ala)	AFF4 (P1056A)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2891150	NM_014423.4(AFF4):c.3242C>G (p.Ser1081Cys)	AFF4 (S1081C)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2887631	NM_014423.4(AFF4):c.1390-19A>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 2885469	NM_014423.4(AFF4):c.467A>G (p.Tyr156Cys)	AFF4 (Y156C)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2885029	NM_014423.4(AFF4):c.2234C>T (p.Pro745Leu)	AFF4 (P745L)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2883176	NM_014423.4(AFF4):c.1095T>C (p.Tyr365=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 2878466	NM_014423.4(AFF4):c.1051-5C>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 2871491	NM_014423.4(AFF4):c.1087+19_1087+22del	AFF4	Deletion (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 2863550	NM_014423.4(AFF4):c.3099+8T>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 2863547	NM_014423.4(AFF4):c.2661T>C (p.Ser887=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 2862824	NM_014423.4(AFF4):c.1023A>C (p.Glu341Asp)	AFF4 (E341D)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2862536	NM_014423.4(AFF4):c.404G>A (p.Arg135Gln)	AFF4 (R135Q)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2856298	NM_014423.4(AFF4):c.92G>A (p.Ser31Asn)	AFF4 (S31N)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2850929	NM_014423.4(AFF4):c.308A>T (p.His103Leu)	AFF4 (H103L)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2842267	NM_014423.4(AFF4):c.247C>A (p.Pro83Thr)	AFF4 (P83T)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2838783	NM_014423.4(AFF4):c.229A>T (p.Ile77Phe)	AFF4 (I77F)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2837967	NM_014423.4(AFF4):c.2123C>T (p.Pro708Leu)	AFF4 (P708L)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2830252	NM_014423.4(AFF4):c.3365-17T>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 2817646	NM_014423.4(AFF4):c.1039T>C (p.Phe347Leu)	AFF4 (F347L)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2814005	NM_014423.4(AFF4):c.1839A>G (p.Ile613Met)	AFF4 (I613M)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2810385	NM_014423.4(AFF4):c.2028T>C (p.Val676=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 2808050	NM_014423.4(AFF4):c.556G>A (p.Ala186Thr)	AFF4 (A186T)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2805891	NM_014423.4(AFF4):c.1620A>G (p.Ser540=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 2805491	NM_014423.4(AFF4):c.1284T>C (p.Ser428=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 2792414	NM_014423.4(AFF4):c.2796+14C>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 2789604	NM_014423.4(AFF4):c.1175G>C (p.Ser392Thr)	AFF4 (S392T)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2788673	NM_014423.4(AFF4):c.1000A>G (p.Ile334Val)	AFF4 (I334V)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2787363	NM_014423.4(AFF4):c.2397-18A>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 2786845	NM_014423.4(AFF4):c.465A>C (p.Ser155=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 2786712	NM_014423.4(AFF4):c.1051-17A>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 2783937	NM_014423.4(AFF4):c.124-3T>C	AFF4	Single nucleotide variant (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2781962	NM_014423.4(AFF4):c.2397-19C>T	AFF4	Single nucleotide variant (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2775500	NM_014423.4(AFF4):c.1050+18A>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 2772500	NM_014423.4(AFF4):c.102C>G (p.Leu34=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 2771632	NM_014423.4(AFF4):c.1488C>T (p.Ile496=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 2762896	NM_014423.4(AFF4):c.2521T>C (p.Leu841=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 2760176	NM_014423.4(AFF4):c.387T>C (p.Ser129=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 2756287	NM_014423.4(AFF4):c.1847A>G (p.Glu616Gly)	AFF4 (E616G)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2753360	NM_014423.4(AFF4):c.963+20T>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 2752136	NM_014423.4(AFF4):c.73G>C (p.Glu25Gln)	AFF4 (E25Q)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2745422	NM_014423.4(AFF4):c.1795A>G (p.Ser599Gly)	AFF4 (S599G)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2742470	NM_014423.4(AFF4):c.124-5dup	AFF4	Duplication (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GBenign
Select item 2741366	NM_014423.4(AFF4):c.987C>T (p.Pro329=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 2738056	NM_014423.4(AFF4):c.2721C>A (p.Val907=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 2737198	NM_014423.4(AFF4):c.1087+7_1087+10del	AFF4	Deletion (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 2732932	NM_014423.4(AFF4):c.777C>T (p.Pro259=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GBenign
Select item 2730248	NM_014423.4(AFF4):c.2644G>C (p.Ala882Pro)	AFF4 (A882P)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2728933	NM_014423.4(AFF4):c.935A>G (p.Asp312Gly)	AFF4 (D312G)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2723870	NM_014423.4(AFF4):c.95C>G (p.Ser32Cys)	AFF4 (S32C)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2723726	NM_014423.4(AFF4):c.1732C>G (p.Pro578Ala)	AFF4 (P578A)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2722425	NM_014423.4(AFF4):c.484A>G (p.Ser162Gly)	AFF4 (S162G)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2720985	NM_014423.4(AFF4):c.971C>T (p.Thr324Met)	AFF4 (T324M)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2718822	NM_014423.4(AFF4):c.1766C>A (p.Pro589His)	AFF4 (P589H)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2717805	NM_014423.4(AFF4):c.490C>T (p.Arg164Trp)	AFF4 (R164W)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2716516	NM_014423.4(AFF4):c.1870A>G (p.Thr624Ala)	AFF4 (T624A)	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 2715329	NM_014423.4(AFF4):c.1041T>C (p.Phe347=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 2711246	NM_014423.4(AFF4):c.2801A>T (p.Asp934Val)	AFF4 (D934V)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2698799	NM_014423.4(AFF4):c.2482C>T (p.His828Tyr)	AFF4 (H828Y)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2697419	NM_014423.4(AFF4):c.1055C>T (p.Ser352Phe)	AFF4 (S352F)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2694080	NM_014423.4(AFF4):c.1088-20C>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 2655702	NM_014423.4(AFF4):c.145T>C (p.Ser49Pro)	AFF4 (S49P)	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 2628337	NM_014423.4(AFF4):c.2896C>T (p.Pro966Ser)	AFF4 (P966S)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2570680	NM_014423.4(AFF4):c.879del (p.His294fs)	AFF4 (H294fs)	Deletion (frameshift variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2502245	NM_014423.4(AFF4):c.2656T>A (p.Ser886Thr)	AFF4 (S886T)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome +1 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 4