"Fulgent Genetics, Fulgent Genetics"[submitter] AND "RAI1"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1376600	NM_030665.4(RAI1):c.454C>A (p.Pro152Thr)	RAI1 (P152T)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +1 more	GUncertain significance
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 96196	NM_030665.4(RAI1):c.725C>T (p.Pro242Leu)	RAI1 (P242L)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +4 more	GBenign/Likely benign
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 96176	NM_030665.4(RAI1):c.1044C>T (p.Arg348=)	RAI1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 96177	NM_030665.4(RAI1):c.1142C>T (p.Ala381Val)	RAI1 (A381V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 436495	NM_030665.4(RAI1):c.1471G>A (p.Glu491Lys)	RAI1 (E491K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 588082	NM_030665.4(RAI1):c.1894C>T (p.Leu632=)	RAI1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 261935	NM_030665.4(RAI1):c.2907C>T (p.Asp969=)	RAI1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 586398	NM_030665.4(RAI1):c.3589G>C (p.Gly1197Arg)	RAI1 (G1197R)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 167562	NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln)	RAI1 (R1217Q)	Single nucleotide variant (missense variant)	RAI1-related disorder +4 more	GBenign/Likely benign
Select item 589217	NM_030665.4(RAI1):c.3731GCA[3] (p.Ser1247_Ser1249del)	RAI1	Microsatellite (inframe_deletion)	not provided +3 more	GBenign/Likely benign
Select item 436500	NM_030665.4(RAI1):c.3895G>A (p.Asp1299Asn)	RAI1 (D1299N)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +3 more	GUncertain significance
Select item 261936	NM_030665.4(RAI1):c.4295C>T (p.Pro1432Leu)	RAI1 (P1432L)	Single nucleotide variant (missense variant)	RAI1-related disorder +4 more	GBenign/Likely benign
Select item 589215	NM_030665.4(RAI1):c.4317G>T (p.Gly1439=)	RAI1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 96191	NM_030665.4(RAI1):c.4512G>T (p.Leu1504=)	RAI1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1593975	NM_030665.4(RAI1):c.4911G>A (p.Ser1637=)	RAI1	Single nucleotide variant (synonymous variant)	RAI1-related disorder +2 more	GLikely benign
Select item 436504	NM_030665.4(RAI1):c.5653G>A (p.Asp1885Asn)	RAI1 (D1885N)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +4 more	GConflicting classifications of pathogenicity