Related gene-specific medical variations for Gene (Select 10743) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361115	NM_030665.4(RAI1):c.4331C>G (p.Pro1444Arg)	RAI1 (P1444R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360224	NM_030665.4(RAI1):c.1985G>T (p.Gly662Val)	RAI1 (G662V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360004	NM_030665.4(RAI1):c.613C>G (p.Gln205Glu)	RAI1 (Q205E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3243208	NC_000017.10:g.(?_17707050)_(17713295_?)dup	RAI1	Duplication	not provided	GLikely benign
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 2684320	NM_030665.4(RAI1):c.3112A>G (p.Met1038Val)	RAI1 (M1038V)	Single nucleotide variant (missense variant)	not provided	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 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 2430022	NM_030665.4(RAI1):c.3293_3297del (p.Val1098fs)	RAI1 (V1098fs)	Deletion (frameshift variant)	Smith-Magenis syndrome	GLikely pathogenic
Select item 1807119	NM_030665.4(RAI1):c.3769G>T (p.Asp1257Tyr)	RAI1 (D1257Y)	Single nucleotide variant (missense variant)	not provided	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 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 1184907	NM_030665.4(RAI1):c.2223_2224dup (p.Asn742fs)	RAI1 (N742fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 987263	NM_030665.4(RAI1):c.362_363insT (p.Trp121fs)	RAI1 (W121fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 987094	NM_030665.4(RAI1):c.2396del (p.Pro799fs)	RAI1 (P799fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 987006	NM_030665.4(RAI1):c.367del (p.Ala123fs)	RAI1 (A123fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 986837	NM_030665.4(RAI1):c.613del (p.Gln205fs)	RAI1 (Q205fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
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 870997	NM_030665.4(RAI1):c.1399_1412del (p.Asn467fs)	RAI1 (N467fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 808241	NM_030665.4(RAI1):c.5272G>C (p.Asp1758His)	RAI1 (D1758H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 625530	NM_030665.4(RAI1):c.3192_3195del (p.Glu1065fs)	RAI1 (E1065fs)	Microsatellite (frameshift variant)	Smith-Magenis syndrome	GPathogenic
Select item 591371	NM_030665.4(RAI1):c.834GCA[22] (p.Gln283_Gln291dup)	RAI1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 564415	GRCh37/hg19 17p11.2(chr17:17504608-17625893)x3	RAI1	Copy number gain	not provided	GUncertain significance
Select item 488447	NM_030665.4(RAI1):c.4673dup (p.Arg1559fs)	RAI1 (R1559fs)	Duplication (frameshift variant)	Smith-Magenis syndrome	GPathogenic
Select item 394433	GRCh37/hg19 17p11.2(chr17:17627289-17627351)x1	RAI1	Copy number loss	See cases	GPathogenic
Select item 253952	GRCh37/hg19 17p11.2(chr17:17496888-17599850)x3	RAI1	Copy number gain	See cases	GUncertain significance
Select item 143197	NM_030665.4(RAI1):c.2273G>A (p.Trp758Ter)	RAI1 (W758*)	Single nucleotide variant (nonsense)	Smith-Magenis syndrome	GPathogenic

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Items: 33