ClinVar for MedGen (Select 854647) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237495	NM_001493.3(GDI1):c.1088_1089insT (p.Glu363fs)	GDI1 (E363fs)	Insertion (frameshift variant)	Intellectual disability, X-linked 41	GPathogenic
Select item 2578425	NM_001493.3(GDI1):c.335A>G (p.Lys112Arg)	GDI1 (K112R)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 41	GUncertain significance
Select item 2432101	NM_001493.3(GDI1):c.517C>T (p.Arg173Trp)	GDI1 (R173W)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 41	GUncertain significance
Select item 2432100	NM_001493.3(GDI1):c.518G>A (p.Arg173Gln)	GDI1 (R173Q)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 41	GUncertain significance
Select item 1705314	NM_001493.3(GDI1):c.706del (p.Gln236fs)	GDI1 (Q236fs)	Deletion (frameshift variant)	Intellectual disability, X-linked 41	GLikely pathogenic
Select item 1683576	NM_001493.3(GDI1):c.295T>C (p.Tyr99His)	GDI1 (Y99H)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 41	GUncertain significance
Select item 1683290	NM_001493.3(GDI1):c.706C>T (p.Gln236Ter)	GDI1 (Q236*)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 41	GLikely pathogenic
Select item 1333612	NM_001493.3(GDI1):c.45+1G>A	GDI1	Single nucleotide variant (splice donor variant)	Intellectual disability, X-linked 41	GLikely pathogenic
Select item 976430	NM_001493.3(GDI1):c.1173_1174insACATGAT (p.Asp392delinsThrTer)	GDI1	Insertion (nonsense)	Intellectual disability, X-linked 41 +1 more	GPathogenic
Select item 976035	NM_001493.3(GDI1):c.788del (p.Gly263fs)	GDI1 (G263fs)	Deletion (frameshift variant)	Intellectual disability, X-linked 41	GLikely pathogenic
Select item 975399	NM_001493.3(GDI1):c.1060_1064del (p.Ser354fs)	GDI1 (S354fs)	Deletion (frameshift variant)	Intellectual disability, X-linked 41	GPathogenic
Select item 435315	NM_001493.3(GDI1):c.193T>A (p.Ser65Thr)	GDI1 (S65T)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 41 +2 more	GConflicting classifications of pathogenicity
Select item 423705	NM_001493.3(GDI1):c.1283C>T (p.Ala428Val)	GDI1 (A428V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 129150	NM_001493.3(GDI1):c.324C>T (p.Ser108=)	GDI1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 129149	NM_001493.3(GDI1):c.219T>C (p.Asn73=)	GDI1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 29933	NM_001493.3(GDI1):c.1186_1187del (p.Ser396fs)	GDI1 (S396fs)	Microsatellite (frameshift variant)	Intellectual disability, X-linked 41	GPathogenic
Select item 11628	NM_001493.3(GDI1):c.1268G>C (p.Arg423Pro)	GDI1 (R423P)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 41	GPathogenic
Select item 11627	NM_001493.3(GDI1):c.208C>T (p.Arg70Ter)	GDI1 (R70*)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 41	GPathogenic
Select item 11626	NM_001493.3(GDI1):c.275T>C (p.Leu92Pro)	GDI1 (L92P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance