"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ATRIP"[gen - ClinVar

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

Search results

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 771855	NM_130384.3(ATRIP):c.2105G>A (p.Arg702Gln)	ATRIP-TREX1, ATRIP (R575Q +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 774842	NM_130384.3(ATRIP):c.2337G>A (p.Ala779=)	LOC129936704, ATRIP +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 624023	NM_033629.6(TREX1):c.32T>G (p.Met11Arg)	TREX1, ATRIP +1 more (M11R +1 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 2653791	NM_033629.6(TREX1):c.84G>C (p.Gln28His)	ATRIP, ATRIP-TREX1 +1 more (Q18H +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 more	GUncertain significance
Select item 2160083	NM_033629.6(TREX1):c.96G>A (p.Thr32=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 more	GLikely benign
Select item 872548	NM_033629.6(TREX1):c.120C>T (p.His40=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +3 more	GConflicting classifications of pathogenicity
Select item 282766	NM_033629.6(TREX1):c.144dup (p.Thr49fs)	TREX1, ATRIP +1 more (T39fs +1 more)	Duplication (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +5 more	GPathogenic/Likely pathogenic
Select item 522920	NM_033629.6(TREX1):c.218C>T (p.Pro73Leu)	ATRIP, ATRIP-TREX1 +1 more (P73L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 225498	NM_033629.6(TREX1):c.290G>A (p.Arg97His)	ATRIP, ATRIP-TREX1 +1 more (R97H +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 4179	NM_033629.6(TREX1):c.341G>A (p.Arg114His)	ATRIP, ATRIP-TREX1 +1 more (R114H +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	TREX1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 809480	NM_033629.6(TREX1):c.346C>G (p.Pro116Ala)	TREX1, ATRIP +1 more (P116A +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Chilblain lupus 1 +3 more	GConflicting classifications of pathogenicity
Select item 719820	NM_033629.6(TREX1):c.387C>T (p.Tyr129=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 more	GLikely benign
Select item 1098249	NM_033629.6(TREX1):c.477G>A (p.Leu159=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 more	GLikely benign
Select item 1711574	NM_033629.6(TREX1):c.541_544dup (p.Ile182fs)	ATRIP, ATRIP-TREX1 +1 more (I172fs +1 more)	Duplication (non-coding transcript variant +2 more)	not provided +1 more	GLikely pathogenic
Select item 1335520	NM_033629.6(TREX1):c.553C>T (p.Arg185Cys)	ATRIP, ATRIP-TREX1 +1 more (R175C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 more	GUncertain significance
Select item 1413822	NM_033629.6(TREX1):c.581C>T (p.Ser194Leu)	ATRIP, ATRIP-TREX1 +1 more (S194L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 more	GUncertain significance
Select item 4182	NM_033629.6(TREX1):c.602T>A (p.Val201Asp)	ATRIP, ATRIP-TREX1 +1 more (V201D +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GPathogenic
Select item 2156872	NM_033629.6(TREX1):c.616A>G (p.Ser206Gly)	ATRIP, ATRIP-TREX1 +1 more (S206G +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +3 more	GUncertain significance
Select item 1675919	NM_033629.6(TREX1):c.632G>T (p.Arg211Ile)	ATRIP, ATRIP-TREX1 +1 more (R201I +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 870893	NM_033629.6(TREX1):c.700G>T (p.Gly234Trp)	ATRIP, ATRIP-TREX1 +1 more (G224W +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 96242	NM_033629.6(TREX1):c.797A>G (p.Glu266Gly)	ATRIP, ATRIP-TREX1 +1 more (E266G +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 809481	NM_033629.6(TREX1):c.806del (p.Gly269fs)	ATRIP, ATRIP-TREX1 +1 more (G269fs +1 more)	Deletion (non-coding transcript variant +2 more)	not provided	GLikely pathogenic
Select item 1554349	NM_033629.6(TREX1):c.828G>A (p.Val276=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 more	GLikely benign
Select item 2653792	NM_033629.6(TREX1):c.856G>A (p.Gly286Arg)	ATRIP, ATRIP-TREX1 +1 more (G276R +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 126393	NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)	TREX1, ATRIP +1 more	Deletion (non-coding transcript variant +2 more)	TREX1-related condition +6 more	GPathogenic/Likely pathogenic
Select item 624024	NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys)	ATRIP, ATRIP-TREX1 +1 more (Y305C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +4 more	GUncertain significance
Select item 374471	NM_033629.6(TREX1):c.923C>G (p.Ser308Cys)	TREX1, ATRIP +1 more (S308C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +4 more	GUncertain significance

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: 27