ClinVar for MedGen (Select 477095) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061895	NM_003336.4(UBE2A):c.330+1del	UBE2A	Deletion (splice donor variant)	Syndromic X-linked intellectual disability Nascimento type	GLikely pathogenic
Select item 2579183	GRCh38/hg38 Xq24(chrX:119582581-119589158)x0	NKRF, UBE2A	Copy number loss	Syndromic X-linked intellectual disability Nascimento type	GPathogenic
Select item 2572051	NM_003336.4(UBE2A):c.439C>T (p.Gln147Ter)	UBE2A (Q114* +2 more)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability Nascimento type	GLikely pathogenic
Select item 2498374	NM_003336.4(UBE2A):c.352C>A (p.Pro118Thr)	UBE2A (P118T +2 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Nascimento type	GUncertain significance
Select item 1805779	NM_003336.4(UBE2A):c.39C>A (p.Phe13Leu)	UBE2A (F13L)	Single nucleotide variant (5 prime UTR variant +1 more)	Syndromic X-linked intellectual disability Nascimento type	GUncertain significance
Select item 1333497	NM_003336.4(UBE2A):c.421_422del (p.Val141fs)	UBE2A (V108fs +2 more)	Microsatellite (frameshift variant)	Syndromic X-linked intellectual disability Nascimento type	GLikely pathogenic
Select item 976781	NM_003336.4(UBE2A):c.330+1G>A	UBE2A	Single nucleotide variant (splice donor variant)	Syndromic X-linked intellectual disability Nascimento type	GLikely pathogenic
Select item 915476	NM_003336.4(UBE2A):c.283C>T (p.Arg95Cys)	UBE2A (R95C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 915475	NM_003336.4(UBE2A):c.184G>A (p.Glu62Lys)	UBE2A (E29K +1 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Nascimento type	GUncertain significance
Select item 915474	NM_003336.4(UBE2A):c.242-3_244del	UBE2A	Deletion (splice acceptor variant)	Syndromic X-linked intellectual disability Nascimento type	GLikely pathogenic
Select item 915473	NM_003336.4(UBE2A):c.299ATG[1] (p.Asp101del)	UBE2A (D68del +2 more)	Microsatellite (inframe_deletion)	Syndromic X-linked intellectual disability Nascimento type	GLikely pathogenic
Select item 915472	NM_003336.4(UBE2A):c.295A>G (p.Thr99Ala)	UBE2A (T99A +2 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Nascimento type	GUncertain significance
Select item 804078	NM_003336.4(UBE2A):c.31_42del (p.Asp12_Arg15del)	UBE2A	Deletion (5 prime UTR variant +1 more)	Syndromic X-linked intellectual disability Nascimento type	GLikely pathogenic
Select item 625798	GRCh37/hg19 Xq24(chrX:118714474-118718137)	UBE2A	Copy number loss	Syndromic X-linked intellectual disability Nascimento type	GPathogenic
Select item 589444	NM_003336.4(UBE2A):c.403C>T (p.Arg135Trp)	UBE2A (R135W +2 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Nascimento type +2 more	GUncertain significance
Select item 559652	NM_003336.4(UBE2A):c.373del (p.Gln125fs)	UBE2A (Q125fs +2 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability Nascimento type	GLikely pathogenic
Select item 437188	NM_003336.4(UBE2A):c.67G>A (p.Gly23Arg)	UBE2A (G23R)	Single nucleotide variant (5 prime UTR variant +1 more)	Syndromic X-linked intellectual disability Nascimento type	GPathogenic
Select item 29993	NM_003336.4(UBE2A):c.32G>A (p.Arg11Gln)	UBE2A (R11Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Syndromic X-linked intellectual disability Nascimento type	GPathogenic
Select item 9922	NM_003336.4(UBE2A):c.382C>T (p.Gln128Ter)	UBE2A (Q128* +2 more)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability Nascimento type	GPathogenic