ClinVar for MedGen (Select 162881) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3899337	NM_030665.4(RAI1):c.627dup (p.Pro210fs)	RAI1 (P210fs)	Duplication (frameshift variant)	Smith-Magenis syndrome	GPathogenic
Select item 3897599	NM_030665.4(RAI1):c.1516C>T (p.Gln506Ter)	RAI1 (Q506*)	Single nucleotide variant (nonsense)	Smith-Magenis syndrome	GPathogenic
Select item 3897592	NM_030665.4(RAI1):c.631C>T (p.Gln211Ter)	RAI1 (Q211*)	Single nucleotide variant (nonsense)	Smith-Magenis syndrome	GPathogenic
Select item 3892254	NM_030665.4(RAI1):c.5503G>T (p.Val1835Phe)	RAI1 (V1835F)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GUncertain significance
Select item 3892253	NM_030665.4(RAI1):c.5333G>A (p.Arg1778Gln)	RAI1 (R1778Q)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GUncertain significance
Select item 3776286	NM_030665.4(RAI1):c.93del (p.Arg31fs)	RAI1 (R31fs)	Deletion (frameshift variant)	Smith-Magenis syndrome	GLikely pathogenic
Select item 3767310	NM_030665.4(RAI1):c.1507_1523dup (p.His509fs)	RAI1 (H509fs)	Duplication (frameshift variant)	Smith-Magenis syndrome	GPathogenic
Select item 3603286	NM_030665.4(RAI1):c.1190A>G (p.Asn397Ser)	RAI1 (N397S)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GUncertain significance
Select item 3600382	NM_030665.4(RAI1):c.242G>A (p.Gly81Asp)	RAI1 (G81D)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GUncertain significance
Select item 3581707	NM_030665.4(RAI1):c.5600T>C (p.Ile1867Thr)	RAI1 (I1867T)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3581706	NM_030665.4(RAI1):c.3925G>C (p.Ala1309Pro)	RAI1 (A1309P)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +1 more	GUncertain significance
Select item 3581705	NM_030665.4(RAI1):c.3572del (p.Ser1191fs)	RAI1 (S1191fs)	Deletion (frameshift variant)	Smith-Magenis syndrome	GLikely pathogenic
Select item 3572975	NM_030665.4(RAI1):c.3251_3252del (p.Leu1084fs)	RAI1 (L1084fs)	Deletion (frameshift variant)	Smith-Magenis syndrome	GPathogenic
Select item 3393175	NM_030665.4(RAI1):c.280_286del (p.Arg94fs)	RAI1 (R94fs)	Deletion (frameshift variant)	Smith-Magenis syndrome	GLikely pathogenic
Select item 3383141	NM_030665.4(RAI1):c.2809_2830delinsCACATGAAG (p.Lys937fs)	RAI1 (K937fs)	Indel (frameshift variant)	Smith-Magenis syndrome	GPathogenic
Select item 3383080	NM_030665.4(RAI1):c.1930del (p.Glu644fs)	RAI1 (E644fs)	Deletion (frameshift variant)	Smith-Magenis syndrome	GLikely pathogenic
Select item 3383013	NM_030665.4(RAI1):c.2521_2524del (p.Ser841fs)	RAI1 (S841fs)	Deletion (frameshift variant)	Smith-Magenis syndrome	GLikely pathogenic
Select item 3382560	NM_030665.4(RAI1):c.5516C>T (p.Ala1839Val)	RAI1 (A1839V)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GUncertain significance
Select item 3381888	NM_030665.4(RAI1):c.1810C>T (p.Gln604Ter)	RAI1 (Q604*)	Single nucleotide variant (nonsense)	Smith-Magenis syndrome	GPathogenic
Select item 3381248	NM_030665.4(RAI1):c.5554G>A (p.Ala1852Thr)	RAI1 (A1852T)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GUncertain significance
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 2631149	NM_030665.4(RAI1):c.4463G>T (p.Ser1488Ile)	RAI1 (S1488I)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GUncertain significance
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 +2 more	GConflicting classifications of pathogenicity
Select item 2435358	NM_030665.4(RAI1):c.1777G>T (p.Asp593Tyr)	RAI1 (D593Y)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +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)	Inborn genetic diseases +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 2043994	NM_030665.4(RAI1):c.1816G>A (p.Asp606Asn)	RAI1 (D606N)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +1 more	GUncertain significance
Select item 2039408	NM_030665.4(RAI1):c.4984C>T (p.Pro1662Ser)	RAI1 (P1662S)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +1 more	GUncertain significance
Select item 2012909	NM_030665.4(RAI1):c.3997G>A (p.Val1333Met)	RAI1 (V1333M)	Single nucleotide variant (missense variant)	not provided +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)	not specified +1 more	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)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1686774	NM_030665.4(RAI1):c.1487C>T (p.Pro496Leu)	RAI1 (P496L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
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)	not provided +1 more	GPathogenic/Likely 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)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1564036	NM_030665.4(RAI1):c.2404_2406del (p.Lys802del)	RAI1 (K802del)	Deletion (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1512230	NM_030665.4(RAI1):c.3731GCA[7] (p.Ser1249dup)	RAI1	Microsatellite (inframe_insertion)	Smith-Magenis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1504360	NM_030665.4(RAI1):c.1202C>T (p.Thr401Met)	RAI1 (T401M)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1497004	NM_030665.4(RAI1):c.265C>G (p.Gln89Glu)	RAI1 (Q89E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1475952	NM_030665.4(RAI1):c.116G>T (p.Ser39Ile)	RAI1 (S39I)	Single nucleotide variant (missense variant)	not provided +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	GBenign/Likely benign
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 1403812	NM_030665.4(RAI1):c.4198T>C (p.Cys1400Arg)	RAI1 (C1400R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1376600	NM_030665.4(RAI1):c.454C>A (p.Pro152Thr)	RAI1 (P152T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1374961	NM_030665.4(RAI1):c.3660T>A (p.His1220Gln)	RAI1 (H1220Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1359520	NM_030665.4(RAI1):c.4033G>T (p.Ala1345Ser)	RAI1 (A1345S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1342605	NM_030665.4(RAI1):c.239G>A (p.Arg80Gln)	RAI1 (R80Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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)	not provided +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)	SMCR8, SNORD3A +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)	Smith-Magenis syndrome +2 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 +2 more	GPathogenic/Likely pathogenic
Select item 982948	NM_030665.4(RAI1):c.707A>G (p.Tyr236Cys)	RAI1 (Y236C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 982837	NM_030665.4(RAI1):c.4051G>T (p.Ala1351Ser)	RAI1 (A1351S)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 978852	NM_030665.4(RAI1):c.1958_1959del (p.Val653fs)	RAI1 (V653fs)	Microsatellite (frameshift variant)	Smith-Magenis syndrome +1 more	GLikely pathogenic
Select item 978151	NM_030665.4(RAI1):c.1801G>A (p.Ala601Thr)	RAI1 (A601T)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +1 more	GUncertain significance
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)	not provided +1 more	GConflicting classifications of pathogenicity

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