AFF4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129995052, LOC129995053 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	LOC129994691, LOC129994692 +263 more	Copy number loss	See cases	GPathogenic
Select item 58360	GRCh38/hg38 5q31.1(chr5:132816203-135383158)x1	AFF4, AFF4-DT +147 more	Copy number loss	See cases	GPathogenic
Select item 3030760	NM_014423.4(AFF4):c.*10A>G	AFF4	Single nucleotide variant (3 prime UTR variant)	AFF4-related condition	GLikely benign
Select item 1897722	NM_014423.4(AFF4):c.3480G>A (p.Lys1160=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
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 1307074	NM_014423.4(AFF4):c.3466C>T (p.Arg1156Cys)	AFF4 (R1156C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 797723	NM_014423.4(AFF4):c.3450G>A (p.Gln1150=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 2073528	NM_014423.4(AFF4):c.3432A>T (p.Leu1144=)	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 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 2012149	NM_014423.4(AFF4):c.3414A>G (p.Ala1138=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 1535850	NM_014423.4(AFF4):c.3411T>C (p.Asn1137=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
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 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 1294977	NM_014423.4(AFF4):c.3365-189G>T	AFF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286410	NM_014423.4(AFF4):c.3364+245G>T	AFF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267749	NM_014423.4(AFF4):c.3364+82T>C	AFF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1554972	NM_014423.4(AFF4):c.3364+19A>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 1992861	NM_014423.4(AFF4):c.3364+7A>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 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 1443854	NM_014423.4(AFF4):c.3353A>G (p.Lys1118Arg)	AFF4 (K1118R)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2655700	NM_014423.4(AFF4):c.3343C>G (p.Gln1115Glu)	AFF4 (Q1115E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1659713	NM_014423.4(AFF4):c.3321C>T (p.Thr1107=)	AFF4	Single nucleotide variant (synonymous variant)	AFF4-related condition +1 more	GBenign/Likely benign
Select item 1907848	NM_014423.4(AFF4):c.3320C>T (p.Thr1107Ile)	AFF4 (T1107I)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 766939	NM_014423.4(AFF4):c.3319A>G (p.Thr1107Ala)	AFF4 (T1107A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 779059	NM_014423.4(AFF4):c.3312C>G (p.Leu1104=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome +2 more	GLikely benign
Select item 1304590	NM_014423.4(AFF4):c.3307T>A (p.Phe1103Ile)	AFF4 (F1103I)	Single nucleotide variant (missense variant)	not provided	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 2152918	NM_014423.4(AFF4):c.3274A>G (p.Met1092Val)	AFF4 (M1092V)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3054872	NM_014423.4(AFF4):c.3267C>T (p.Ile1089=)	AFF4	Single nucleotide variant (synonymous variant)	AFF4-related condition	GLikely benign
Select item 735255	NM_014423.4(AFF4):c.3261G>A (p.Gln1087=)	AFF4	Single nucleotide variant (synonymous variant)	AFF4-related condition +1 more	GLikely benign
Select item 1703093	NM_014423.4(AFF4):c.3256C>G (p.Pro1086Ala)	AFF4 (P1086A)	Single nucleotide variant (missense variant)	not provided +1 more	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 2634428	NM_014423.4(AFF4):c.3230C>T (p.Ser1077Phe)	AFF4 (S1077F)	Single nucleotide variant (missense variant)	AFF4-related condition	GUncertain significance
Select item 1346486	NM_014423.4(AFF4):c.3218C>T (p.Ala1073Val)	AFF4 (A1073V)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 707434	NM_014423.4(AFF4):c.3216G>A (p.Gly1072=)	AFF4	Single nucleotide variant (synonymous variant)	AFF4-related condition +2 more	GLikely benign
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 1546500	NM_014423.4(AFF4):c.3207T>C (p.Tyr1069=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 1419414	NM_014423.4(AFF4):c.3170T>C (p.Val1057Ala)	AFF4 (V1057A)	Single nucleotide variant (missense 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 1966090	NM_014423.4(AFF4):c.3144-17C>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 1271361	NM_014423.4(AFF4):c.3144-52T>A	AFF4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1289063	NM_014423.4(AFF4):c.3144-132C>T	AFF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262463	NM_014423.4(AFF4):c.3143+20G>A	AFF4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3035840	NM_014423.4(AFF4):c.3129G>A (p.Ser1043=)	AFF4	Single nucleotide variant (synonymous variant)	AFF4-related condition	GLikely benign
Select item 1626066	NM_014423.4(AFF4):c.3129G>T (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 2198810	NM_014423.4(AFF4):c.3128C>T (p.Ser1043Leu)	AFF4 (S1043L)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 1369040	NM_014423.4(AFF4):c.3116C>T (p.Ser1039Phe)	AFF4 (S1039F)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2174746	NM_014423.4(AFF4):c.3109AAT[1] (p.Asn1038del)	AFF4 (N1038del)	Microsatellite (inframe_deletion)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 3034860	NM_014423.4(AFF4):c.3108T>C (p.Tyr1036=)	AFF4	Single nucleotide variant (synonymous variant)	AFF4-related condition	GLikely benign
Select item 2634293	NM_014423.4(AFF4):c.3107A>T (p.Tyr1036Phe)	AFF4 (Y1036F)	Single nucleotide variant (missense variant)	AFF4-related condition	GUncertain significance
Select item 1279209	NM_014423.4(AFF4):c.3100-158AC[11]	AFF4	Microsatellite (intron variant)	not provided	GBenign
Select item 1275055	NM_014423.4(AFF4):c.3100-158AC[12]	AFF4	Microsatellite (intron variant)	not provided	GBenign
Select item 1260380	NM_014423.4(AFF4):c.3100-158AC[13]	AFF4	Microsatellite (intron variant)	not provided	GBenign
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 542217	NM_014423.4(AFF4):c.3099+2T>C	AFF4	Single nucleotide variant (splice donor 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 2055067	NM_014423.4(AFF4):c.3054G>A (p.Lys1018=)	AFF4	Single nucleotide variant (synonymous variant)	AFF4-related condition +1 more	GLikely benign
Select item 2673027	NM_014423.4(AFF4):c.3044A>G (p.Lys1015Arg)	AFF4 (K1015R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2193386	NM_014423.4(AFF4):c.3021T>C (p.Ser1007=)	AFF4	Single nucleotide variant (synonymous variant)	AFF4-related condition +1 more	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 2028684	NM_014423.4(AFF4):c.3006-19G>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 1583254	NM_014423.4(AFF4):c.3006-20C>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 1314736	NM_014423.4(AFF4):c.3005+2T>C	AFF4	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2089128	NM_014423.4(AFF4):c.3003T>C (p.Leu1001=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 707544	NM_014423.4(AFF4):c.3000A>G (p.Val1000=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GBenign
Select item 1356977	NM_014423.4(AFF4):c.2995A>G (p.Thr999Ala)	AFF4 (T999A)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome +2 more	GConflicting classifications of pathogenicity
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 2143924	NM_014423.4(AFF4):c.2934-20_2934-19dup	AFF4	Duplication (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 3055124	NM_014423.4(AFF4):c.2919G>A (p.Thr973=)	AFF4	Single nucleotide variant (synonymous variant)	AFF4-related condition	GLikely benign
Select item 2489565	NM_014423.4(AFF4):c.2918C>T (p.Thr973Met)	AFF4 (T973M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 707057	NM_014423.4(AFF4):c.2892A>G (p.Lys964=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GBenign/Likely benign
Select item 1338148	NM_014423.4(AFF4):c.2817T>C (p.Ala939=)	AFF4	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
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 2178621	NM_014423.4(AFF4):c.2797-7T>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 2018304	NM_014423.4(AFF4):c.2796+19del	AFF4	Deletion (intron 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 3031591	NM_014423.4(AFF4):c.2796+8_2796+11del	AFF4	Deletion (intron variant)	AFF4-related condition	GLikely benign
Select item 1343216	NM_014423.4(AFF4):c.2796+1G>A	AFF4	Single nucleotide variant (splice donor variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 1471871	NM_014423.4(AFF4):c.2760A>G (p.Gln920=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign
Select item 1550302	NM_014423.4(AFF4):c.2733-7C>G	AFF4	Single nucleotide variant (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome +1 more	GLikely benign
Select item 2057809	NM_014423.4(AFF4):c.2733-9G>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 2043100	NM_014423.4(AFF4):c.2724T>C (p.Phe908=)	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 2173739	NM_014423.4(AFF4):c.2719G>A (p.Val907Ile)	AFF4 (V907I)	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 1719497	NM_014423.4(AFF4):c.2705G>A (p.Arg902Gln)	AFF4 (R902Q)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 2588188	NM_014423.4(AFF4):c.2704C>T (p.Arg902Trp)	AFF4 (R902W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1699031	NM_014423.4(AFF4):c.2702C>T (p.Pro901Leu)	AFF4 (P901L)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 1805738	NM_014423.4(AFF4):c.2678C>T (p.Ala893Val)	AFF4 (A893V)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GUncertain significance
Select item 772457	NM_014423.4(AFF4):c.2669C>T (p.Pro890Leu)	AFF4 (P890L)	Single nucleotide variant (missense variant)	AFF4-related condition +1 more	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 2502245	NM_014423.4(AFF4):c.2656T>A (p.Ser886Thr)	AFF4 (S886T)	Single nucleotide variant (missense variant)	AFF4-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1690889	NM_014423.4(AFF4):c.2645C>T (p.Ala882Val)	AFF4 (A882V)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
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 2429928	NM_014423.4(AFF4):c.2638-4_2638del	AFF4	Deletion (splice acceptor variant)	Autism spectrum disorder	GLikely benign
Select item 2021068	NM_014423.4(AFF4):c.2638-16A>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 1561623	NM_014423.4(AFF4):c.2638-17del	AFF4	Deletion (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	GLikely benign

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