ClinVar for MedGen (Select 899086) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235031	NM_015650.4(TRAF3IP1):c.551_554del (p.Gln184fs)	TRAF3IP1 (Q184fs)	Deletion (frameshift variant)	Senior-Loken syndrome 9	GLikely pathogenic
Select item 2437221	NM_015650.4(TRAF3IP1):c.812G>A (p.Arg271Gln)	TRAF3IP1 (R271Q)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 9	GUncertain significance
Select item 1523605	NM_015650.4(TRAF3IP1):c.1064G>A (p.Gly355Glu)	TRAF3IP1 (G355E)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 9 +2 more	GUncertain significance
Select item 1168003	NM_015650.4(TRAF3IP1):c.69C>A (p.Thr23=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1054876	NM_015650.4(TRAF3IP1):c.436T>C (p.Ser146Pro)	TRAF3IP1 (S146P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1027992	NM_015650.4(TRAF3IP1):c.152G>A (p.Gly51Asp)	TRAF3IP1 (G51D)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 9	GUncertain significance
Select item 1013755	NM_015650.4(TRAF3IP1):c.1408C>T (p.Arg470Trp)	TRAF3IP1 (R404W +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 9 +1 more	GUncertain significance
Select item 959623	NM_015650.4(TRAF3IP1):c.685G>A (p.Glu229Lys)	TRAF3IP1 (E229K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 951276	NM_015650.4(TRAF3IP1):c.88C>T (p.Pro30Ser)	TRAF3IP1 (P30S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 773666	NM_015650.4(TRAF3IP1):c.1282+8A>T	TRAF3IP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 254150	NM_015650.4(TRAF3IP1):c.51T>G (p.Ile17Met)	TRAF3IP1 (I17M)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 9	GPathogenic
Select item 254149	NM_015650.4(TRAF3IP1):c.373G>A (p.Val125Met)	TRAF3IP1 (V125M)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 9	GPathogenic
Select item 254148	NM_015650.4(TRAF3IP1):c.1575+6T>G	TRAF3IP1	Single nucleotide variant (intron variant)	Senior-Loken syndrome 9	GPathogenic
Select item 254147	NM_015650.4(TRAF3IP1):c.1559T>G (p.Met520Arg)	TRAF3IP1 (M520R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 254146	NM_015650.4(TRAF3IP1):c.463C>T (p.Arg155Ter)	TRAF3IP1 (R155*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 254145	NM_015650.4(TRAF3IP1):c.374T>C (p.Val125Ala)	TRAF3IP1 (V125A)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 9	GPathogenic