"GeneDx"[submitter] AND "TRAF3IP1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	LOC129935990, LOC129935991 +361 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	ACKR3, AGAP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 58879	GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1	LOC126806577, LOC126806578 +334 more	Copy number loss	See cases	GPathogenic
Select item 58880	GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1	PRLH, PRR21 +325 more	Copy number loss	See cases	GPathogenic
Select item 59177	GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3	ACKR3, AGAP1 +303 more	Copy number gain	See cases	GPathogenic
Select item 58883	GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1	ACKR3, AGAP1 +298 more	Copy number loss	See cases	GPathogenic
Select item 59178	GRCh38/hg38 2q37.3(chr2:237813997-240410487)x3	ASB1, COPS9 +102 more	Copy number gain	See cases	GPathogenic
Select item 1286072	NC_000002.12:g.238320388C>G	LOC129935941, TRAF3IP1	Single nucleotide variant	not provided	GBenign
Select item 1248120	NC_000002.12:g.238320388C>A	LOC129935941, TRAF3IP1	Single nucleotide variant	not provided	GBenign
Select item 1281208	NM_015650.4(TRAF3IP1):c.-99del	LOC129935941, TRAF3IP1	Deletion (5 prime UTR variant)	not provided	GBenign
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 1804217	NM_015650.4(TRAF3IP1):c.118A>G (p.Thr40Ala)	TRAF3IP1 (T40A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1167272	NM_015650.4(TRAF3IP1):c.123+14A>G	TRAF3IP1, LOC129935942	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272429	NM_015650.4(TRAF3IP1):c.123+154G>A	LOC129935942, TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246483	NM_015650.4(TRAF3IP1):c.123+218G>A	LOC129935942, TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245010	NM_015650.4(TRAF3IP1):c.124-215T>C	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 452924	NM_015650.4(TRAF3IP1):c.124-5T>G	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1289855	NM_015650.4(TRAF3IP1):c.192+94T>C	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268324	NM_015650.4(TRAF3IP1):c.193-54A>G	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249117	NM_015650.4(TRAF3IP1):c.355-170C>T	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1167549	NM_015650.4(TRAF3IP1):c.683A>G (p.Asn228Ser)	TRAF3IP1 (N228S)	Single nucleotide variant (missense variant)	TRAF3IP1-related condition +1 more	GBenign
Select item 1169658	NM_015650.4(TRAF3IP1):c.715C>T (p.Arg239Trp)	TRAF3IP1 (R239W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1167550	NM_015650.4(TRAF3IP1):c.885G>T (p.Lys295Asn)	TRAF3IP1 (K295N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1167551	NM_015650.4(TRAF3IP1):c.906T>C (p.Pro302=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	TRAF3IP1-related condition +1 more	GBenign
Select item 1223027	NM_015650.4(TRAF3IP1):c.988-179C>T	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246570	NM_015650.4(TRAF3IP1):c.988-143T>C	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271403	NM_015650.4(TRAF3IP1):c.1063+57dup	TRAF3IP1	Duplication (intron variant)	not provided	GBenign
Select item 1227099	NM_015650.4(TRAF3IP1):c.1063+56_1063+57dup	TRAF3IP1	Duplication (intron variant)	not provided	GBenign
Select item 1235342	NM_015650.4(TRAF3IP1):c.1063+291T>C	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 940343	NM_015650.4(TRAF3IP1):c.1090A>G (p.Lys364Glu)	TRAF3IP1 (K364E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 970438	NM_015650.4(TRAF3IP1):c.1156A>G (p.Ile386Val)	TRAF3IP1 (I386V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1252955	NM_015650.4(TRAF3IP1):c.1159+76A>G	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183205	NM_015650.4(TRAF3IP1):c.1159+115G>A	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232607	NM_015650.4(TRAF3IP1):c.1160-131T>C	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1167552	NM_015650.4(TRAF3IP1):c.1246A>T (p.Thr416Ser)	TRAF3IP1 (T416S)	Single nucleotide variant (missense variant +1 more)	TRAF3IP1-related condition +1 more	GBenign
Select item 1260778	NM_015650.4(TRAF3IP1):c.1261+27C>A	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263515	NM_015650.4(TRAF3IP1):c.1262-330A>G	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237089	NM_015650.4(TRAF3IP1):c.1282+163A>T	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228202	NM_015650.4(TRAF3IP1):c.1283-195C>T	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1017500	NM_015650.4(TRAF3IP1):c.1378C>T (p.Arg460Trp)	TRAF3IP1 (R394W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 746342	NM_015650.4(TRAF3IP1):c.1451+5G>A	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1279918	NM_015650.4(TRAF3IP1):c.1451+108A>G	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1165035	NM_015650.4(TRAF3IP1):c.1612+16G>A	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1166906	NM_015650.4(TRAF3IP1):c.1858A>C (p.Met620Leu)	TRAF3IP1 (M554L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1223327	NM_015650.4(TRAF3IP1):c.1911-150A>G	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 47