ClinVar for MedGen (Select 162881) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3250398	NM_030665.4(RAI1):c.1774C>T (p.Arg592Trp)	RAI1 (R592W)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GLikely pathogenic
Select item 3064971	NM_030665.4(RAI1):c.4523_4546del (p.Ser1508_Pro1515del)	RAI1	Deletion (inframe_deletion)	Smith-Magenis syndrome	GUncertain significance
Select item 3062317	NM_030665.4(RAI1):c.367dup (p.Ala123fs)	RAI1 (A123fs)	Duplication (frameshift variant)	Smith-Magenis syndrome	GLikely pathogenic
Select item 2682235	NM_030665.4(RAI1):c.5626dup (p.His1876fs)	RAI1 (H1876fs)	Duplication (frameshift variant)	Smith-Magenis syndrome	GPathogenic
Select item 2627087	NM_030665.4(RAI1):c.2468G>A (p.Gly823Asp)	RAI1 (G823D)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GUncertain significance
Select item 2580159	NM_030665.4(RAI1):c.629C>G (p.Pro210Arg)	RAI1 (P210R)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GLikely pathogenic
Select item 2578445	NM_030665.4(RAI1):c.2903C>A (p.Ser968Ter)	RAI1 (S968*)	Single nucleotide variant (nonsense)	Smith-Magenis syndrome	GLikely pathogenic
Select item 2572574	NM_030665.4(RAI1):c.1677del (p.Ser560fs)	RAI1 (S560fs)	Deletion (frameshift variant)	Smith-Magenis syndrome	GLikely pathogenic
Select item 2505268	NM_030665.4(RAI1):c.219_226del (p.Ala74fs)	RAI1 (A74fs)	Deletion (frameshift variant)	Smith-Magenis syndrome	GPathogenic
Select item 2501674	NM_030665.4(RAI1):c.2329del (p.Asp777fs)	RAI1 (D777fs)	Deletion (frameshift variant)	Smith-Magenis syndrome	GPathogenic
Select item 2435362	NM_030665.4(RAI1):c.5407C>G (p.Arg1803Gly)	RAI1 (R1803G)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +1 more	GUncertain significance
Select item 2435361	NM_030665.4(RAI1):c.274C>A (p.Gln92Lys)	RAI1 (Q92K)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GUncertain significance
Select item 2435360	NM_030665.4(RAI1):c.4462A>G (p.Ser1488Gly)	RAI1 (S1488G)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GUncertain significance
Select item 2435359	NM_030665.4(RAI1):c.1618G>T (p.Ala540Ser)	RAI1 (A540S)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +1 more	GUncertain significance
Select item 2435358	NM_030665.4(RAI1):c.1777G>T (p.Asp593Tyr)	RAI1 (D593Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2431950	NM_030665.4(RAI1):c.282G>T (p.Arg94Ser)	RAI1 (R94S)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GUncertain significance
Select item 2430022	NM_030665.4(RAI1):c.3293_3297del (p.Val1098fs)	RAI1 (V1098fs)	Deletion (frameshift variant)	Smith-Magenis syndrome	GLikely pathogenic
Select item 2230823	NM_030665.4(RAI1):c.2763_2764del (p.Glu923fs)	RAI1 (E923fs)	Deletion (frameshift variant)	Smith-Magenis syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2045960	NM_030665.4(RAI1):c.3407C>T (p.Thr1136Met)	RAI1 (T1136M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2012909	NM_030665.4(RAI1):c.3997G>A (p.Val1333Met)	RAI1 (V1333M)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1806004	NM_030665.4(RAI1):c.4415C>G (p.Ala1472Gly)	RAI1 (A1472G)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GUncertain significance
Select item 1805893	NM_030665.4(RAI1):c.4317dup (p.Thr1440fs)	RAI1 (T1440fs)	Duplication (frameshift variant)	Smith-Magenis syndrome	GPathogenic
Select item 1804900	NM_030665.4(RAI1):c.1658T>C (p.Val553Ala)	RAI1 (V553A)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GUncertain significance
Select item 1802191	NM_030665.4(RAI1):c.848_851del (p.Gln283fs)	RAI1 (Q283fs)	Deletion (frameshift variant)	Smith-Magenis syndrome	GPathogenic
Select item 1709995	NM_030665.4(RAI1):c.1785dup (p.Arg596fs)	RAI1 (R596fs)	Duplication (frameshift variant)	Smith-Magenis syndrome	GPathogenic
Select item 1705381	NM_030665.4(RAI1):c.269del (p.Gly90fs)	RAI1 (G90fs)	Deletion (frameshift variant)	Smith-Magenis syndrome	GLikely pathogenic
Select item 1705219	NM_030665.4(RAI1):c.5223del (p.Gly1742fs)	RAI1 (G1742fs)	Deletion (frameshift variant)	Smith-Magenis syndrome	GLikely pathogenic
Select item 1705141	NM_030665.4(RAI1):c.3534_3547del (p.Asp1179fs)	RAI1 (D1179fs)	Deletion (frameshift variant)	Smith-Magenis syndrome	GLikely pathogenic
Select item 1703566	GRCh37/hg19 17p11.2(chr17:17151140-20187953)	AKAP10, ALDH3A1 +43 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 1703565	GRCh37/hg19 17p11.2(chr17:16651292-20286898)	AKAP10, ALDH3A1 +48 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 1696440	NM_030665.4(RAI1):c.5225G>T (p.Gly1742Val)	RAI1 (G1742V)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1685420	NM_030665.4(RAI1):c.5709+5G>C	RAI1	Single nucleotide variant (intron variant)	Smith-Magenis syndrome	GLikely pathogenic
Select item 1679394	NM_030665.4(RAI1):c.13C>T (p.Arg5Ter)	RAI1 (R5*)	Single nucleotide variant (nonsense)	Smith-Magenis syndrome	GLikely pathogenic
Select item 1679355	NM_030665.4(RAI1):c.5444_5448del (p.Pro1815fs)	RAI1 (P1815fs)	Deletion (frameshift variant)	Smith-Magenis syndrome	GLikely pathogenic
Select item 1593975	NM_030665.4(RAI1):c.4911G>A (p.Ser1637=)	RAI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1568523	NM_030665.4(RAI1):c.817C>T (p.Arg273Cys)	RAI1 (R273C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1475952	NM_030665.4(RAI1):c.116G>T (p.Ser39Ile)	RAI1 (S39I)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1474485	NM_030665.4(RAI1):c.1882G>A (p.Glu628Lys)	RAI1 (E628K)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1465426	NM_030665.4(RAI1):c.3401C>T (p.Pro1134Leu)	RAI1 (P1134L)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1376600	NM_030665.4(RAI1):c.454C>A (p.Pro152Thr)	RAI1 (P152T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1374961	NM_030665.4(RAI1):c.3660T>A (p.His1220Gln)	RAI1 (H1220Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1342605	NM_030665.4(RAI1):c.239G>A (p.Arg80Gln)	RAI1 (R80Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1342574	NM_030665.4(RAI1):c.514C>T (p.His172Tyr)	RAI1 (H172Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1342456	NM_030665.4(RAI1):c.4114G>A (p.Gly1372Arg)	RAI1 (G1372R)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GUncertain significance
Select item 1342387	NM_030665.4(RAI1):c.3168T>G (p.Cys1056Trp)	RAI1 (C1056W)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GUncertain significance
Select item 1334033	NM_030665.4(RAI1):c.5698C>G (p.Pro1900Ala)	RAI1 (P1900A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1330239	NM_030665.4(RAI1):c.4271del (p.Phe1424fs)	RAI1 (F1424fs)	Deletion (frameshift variant)	Smith-Magenis syndrome	GPathogenic
Select item 1321232	NM_030665.4(RAI1):c.3272C>A (p.Ala1091Asp)	RAI1 (A1091D)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GUncertain significance
Select item 1321231	NM_030665.4(RAI1):c.-148-13952_-148-10583del	LOC112529899, LOC130060389 +1 more	Deletion (intron variant)	Smith-Magenis syndrome	GPathogenic
Select item 1304227	NM_030665.4(RAI1):c.545C>T (p.Pro182Leu)	RAI1 (P182L)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1208525	NM_030665.4(RAI1):c.2200G>A (p.Ala734Thr)	RAI1 (A734T)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1184965	NM_030665.4(RAI1):c.868C>T (p.Gln290Ter)	RAI1 (Q290*)	Single nucleotide variant (nonsense)	Smith-Magenis syndrome	GPathogenic
Select item 1098707	NM_030665.4(RAI1):c.226G>A (p.Asp76Asn)	RAI1 (D76N)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +1 more	GUncertain significance
Select item 1098581	NM_030665.4(RAI1):c.458C>T (p.Pro153Leu)	RAI1 (P153L)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +1 more	GUncertain significance
Select item 1098289	NM_030665.4(RAI1):c.4525del (p.Gln1509fs)	RAI1 (Q1509fs)	Deletion (frameshift variant)	Smith-Magenis syndrome	GPathogenic
Select item 1047930	NM_030665.4(RAI1):c.3179_3180del (p.Leu1060fs)	RAI1 (L1060fs)	Microsatellite (frameshift variant)	Smith-Magenis syndrome	GPathogenic
Select item 1047863	GRCh37/hg19 17p11.2(chr17:17145361-20137943)	AKAP10, ALDH3A1 +43 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 1032234	NM_030665.4(RAI1):c.4849C>T (p.Pro1617Ser)	RAI1 (P1617S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1032233	NM_030665.4(RAI1):c.2918C>G (p.Ala973Gly)	RAI1 (A973G)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GUncertain significance
Select item 1028899	NM_030665.4(RAI1):c.4967C>G (p.Ser1656Cys)	RAI1 (S1656C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028898	NM_030665.4(RAI1):c.424G>T (p.Asp142Tyr)	RAI1 (D142Y)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GUncertain significance
Select item 1028897	NM_030665.4(RAI1):c.3883C>T (p.Pro1295Ser)	RAI1 (P1295S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 996940	NM_030665.4(RAI1):c.3649C>T (p.Arg1217Trp)	RAI1 (R1217W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 987497	NM_030665.4(RAI1):c.2396dup (p.Gly800fs)	RAI1 (G800fs)	Duplication (frameshift variant)	Smith-Magenis syndrome +1 more	GPathogenic/Likely pathogenic
Select item 982948	NM_030665.4(RAI1):c.707A>G (p.Tyr236Cys)	RAI1 (Y236C)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GLikely benign
Select item 982837	NM_030665.4(RAI1):c.4051G>T (p.Ala1351Ser)	RAI1 (A1351S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 978852	NM_030665.4(RAI1):c.1958_1959del (p.Val653fs)	RAI1 (V653fs)	Microsatellite (frameshift variant)	Intellectual disability +1 more	GLikely pathogenic
Select item 976409	NM_030665.4(RAI1):c.859C>T (p.Gln287Ter)	RAI1 (Q287*)	Single nucleotide variant (nonsense)	Smith-Magenis syndrome	GLikely pathogenic
Select item 976208	NM_030665.4(RAI1):c.2594T>C (p.Leu865Pro)	RAI1 (L865P)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 973254	NM_030665.4(RAI1):c.4681C>T (p.Arg1561Ter)	RAI1 (R1561*)	Single nucleotide variant (nonsense)	Smith-Magenis syndrome +1 more	GPathogenic/Likely pathogenic
Select item 972934	NM_030665.4(RAI1):c.3478C>T (p.Arg1160Trp)	RAI1 (R1160W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 930911	NM_030665.4(RAI1):c.1888C>G (p.Pro630Ala)	RAI1 (P630A)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GUncertain significance
Select item 930630	NM_030665.4(RAI1):c.3760A>G (p.Asn1254Asp)	RAI1 (N1254D)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GLikely benign
Select item 930437	NM_030665.4(RAI1):c.619A>T (p.Thr207Ser)	RAI1 (T207S)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GUncertain significance
Select item 807669	NM_030665.4(RAI1):c.1069_1070insC (p.Ser357fs)	RAI1 (S357fs)	Insertion (frameshift variant)	Smith-Magenis syndrome	GPathogenic
Select item 803329	NM_030665.4(RAI1):c.4814del (p.Asp1605fs)	RAI1 (D1605fs)	Deletion (frameshift variant)	Smith-Magenis syndrome	GPathogenic
Select item 800910	NM_030665.4(RAI1):c.2238G>A (p.Trp746Ter)	RAI1 (W746*)	Single nucleotide variant (nonsense)	Smith-Magenis syndrome	GLikely pathogenic
Select item 634629	NM_030665.4(RAI1):c.1787G>A (p.Arg596Gln)	RAI1 (R596Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 625730	GRCh37/hg19 17p11.2(chr17:16842991-20217316)	AKAP10, ALDH3A1 +47 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 625530	NM_030665.4(RAI1):c.3192_3195del (p.Glu1065fs)	RAI1 (E1065fs)	Microsatellite (frameshift variant)	Smith-Magenis syndrome	GPathogenic
Select item 620039	NM_004595.5(SMS):c.581T>G (p.Val194Gly)	SMS (V194G +1 more)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GLikely pathogenic
Select item 592344	NM_030665.4(RAI1):c.5528T>C (p.Phe1843Ser)	RAI1 (F1843S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 589217	NM_030665.4(RAI1):c.3731GCA[3] (p.Ser1247_Ser1249del)	RAI1	Microsatellite (inframe_deletion)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 589215	NM_030665.4(RAI1):c.4317G>T (p.Gly1439=)	RAI1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 588082	NM_030665.4(RAI1):c.1894C>T (p.Leu632=)	RAI1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 587783	NM_030665.4(RAI1):c.840del (p.Gln280fs)	RAI1 (Q280fs)	Deletion (frameshift variant)	not provided +2 more	GBenign
Select item 586398	NM_030665.4(RAI1):c.3589G>C (p.Gly1197Arg)	RAI1 (G1197R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 522853	NM_030665.4(RAI1):c.2472dup (p.Leu825fs)	RAI1 (L825fs)	Duplication (frameshift variant)	Smith-Magenis syndrome	GPathogenic
Select item 488447	NM_030665.4(RAI1):c.4673dup (p.Arg1559fs)	RAI1 (R1559fs)	Duplication (frameshift variant)	Smith-Magenis syndrome	GPathogenic
Select item 436504	NM_030665.4(RAI1):c.5653G>A (p.Asp1885Asn)	RAI1 (D1885N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 436500	NM_030665.4(RAI1):c.3895G>A (p.Asp1299Asn)	RAI1 (D1299N)	Single nucleotide variant (missense variant)	RAI1-related disorder +3 more	GUncertain significance
Select item 436498	NM_030665.4(RAI1):c.3146C>T (p.Ser1049Leu)	RAI1 (S1049L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 436495	NM_030665.4(RAI1):c.1471G>A (p.Glu491Lys)	RAI1 (E491K)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 436491	NM_030665.4(RAI1):c.109G>A (p.Gly37Arg)	RAI1 (G37R)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 431118	NM_030665.4(RAI1):c.2966_2969del (p.Lys989fs)	RAI1 (K989fs)	Microsatellite (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 403362	NM_030665.4(RAI1):c.840_843del (p.Gln280fs)	RAI1 (Q280fs)	Deletion (frameshift variant)	Inborn genetic diseases +3 more	GBenign
Select item 375265	NM_030665.4(RAI1):c.1748G>A (p.Ser583Asn)	RAI1 (S583N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 261936	NM_030665.4(RAI1):c.4295C>T (p.Pro1432Leu)	RAI1 (P1432L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 261935	NM_030665.4(RAI1):c.2907C>T (p.Asp969=)	RAI1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 243061	Single allele	MIR33B, RAI1 +2 more	Deletion	Smith-Magenis syndrome	GPathogenic

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