LOC123522803[gene] - ClinVar

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Search results

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 147882	GRCh38/hg38 5q31.2(chr5:139103408-139683294)x3	CXXC5, CXXC5-AS1 +74 more	Copy number gain	See cases	GUncertain significance
Select item 58117	GRCh38/hg38 5q31.2(chr5:139151411-139493628)x3	DNAJC18, ECSCR +47 more	Copy number gain	See cases	GPathogenic
Select item 2417117	NM_198282.4(STING1):c.411+17G>T	LOC123522803, STING1	Single nucleotide variant (intron variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2000722	NM_198282.4(STING1):c.411+15del	LOC123522803, STING1	Deletion (intron variant)	STING-associated vasculopathy with onset in infancy	GBenign
Select item 1169525	NM_198282.4(STING1):c.411+14G>A	LOC123522803, STING1	Single nucleotide variant (intron variant)	STING-associated vasculopathy with onset in infancy	GBenign
Select item 2996816	NM_198282.4(STING1):c.411+12G>T	LOC123522803, STING1	Single nucleotide variant (intron variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2199410	NM_198282.4(STING1):c.411+12G>A	LOC123522803, STING1	Single nucleotide variant (intron variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 1680259	NM_198282.4(STING1):c.411+12G>C	LOC123522803, STING1	Single nucleotide variant (intron variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2987150	NM_198282.4(STING1):c.411+10_411+11del	LOC123522803, STING1	Deletion (intron variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2151239	NM_198282.4(STING1):c.411+10del	LOC123522803, STING1	Deletion (intron variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 1680260	NM_198282.4(STING1):c.411+10A>G	LOC123522803, STING1	Single nucleotide variant (intron variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 1694181	NM_198282.4(STING1):c.411+4T>C	LOC123522803, STING1	Single nucleotide variant (intron variant)	STING-associated vasculopathy with onset in infancy +1 more	GUncertain significance
Select item 2003260	NM_198282.4(STING1):c.411+3A>G	LOC123522803, STING1	Single nucleotide variant (intron variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2911712	NM_198282.4(STING1):c.400C>T (p.Leu134=)	LOC123522803, STING1	Single nucleotide variant (synonymous variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 660314	NM_198282.4(STING1):c.398T>A (p.Leu133His)	LOC123522803, STING1 (L133H +1 more)	Single nucleotide variant (missense variant)	STING-associated vasculopathy with onset in infancy +1 more	GUncertain significance
Select item 1680261	NM_198282.4(STING1):c.397C>T (p.Leu133Phe)	LOC123522803, STING1 (L133F +1 more)	Single nucleotide variant (missense variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2072020	NM_198282.4(STING1):c.395T>A (p.Ile132Asn)	LOC123522803, STING1 (I132N +1 more)	Single nucleotide variant (missense variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 649502	NM_198282.4(STING1):c.395T>G (p.Ile132Ser)	LOC123522803, STING1 (I13S +1 more)	Single nucleotide variant (missense variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2042038	NM_198282.4(STING1):c.389T>C (p.Leu130Pro)	LOC123522803, STING1 (L11P +1 more)	Single nucleotide variant (missense variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 1680262	NM_198282.4(STING1):c.381G>T (p.Ser127=)	LOC123522803, STING1	Single nucleotide variant (synonymous variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 1116140	NM_198282.4(STING1):c.381G>A (p.Ser127=)	LOC123522803, STING1	Single nucleotide variant (synonymous variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 746622	NM_198282.4(STING1):c.380C>T (p.Ser127Leu)	LOC123522803, STING1 (S8L +1 more)	Single nucleotide variant (missense variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2707519	NM_198282.4(STING1):c.376C>G (p.Leu126Val)	LOC123522803, STING1 (L126V +1 more)	Single nucleotide variant (missense variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 475205	NM_198282.4(STING1):c.376C>A (p.Leu126Ile)	LOC123522803, STING1 (L126I +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +3 more	GBenign
Select item 1680263	NM_198282.4(STING1):c.366C>T (p.Ala122=)	LOC123522803, STING1	Single nucleotide variant (synonymous variant)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2031714	NM_198282.4(STING1):c.364G>A (p.Ala122Thr)	LOC123522803, STING1 (A122T +1 more)	Single nucleotide variant (missense variant)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 1680264	NM_198282.4(STING1):c.353C>T (p.Thr118Ile)	LOC123522803, STING1 (T118I)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 716347	NM_198282.4(STING1):c.348C>G (p.Pro116=)	LOC123522803, STING1	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GBenign
Select item 2708729	NM_198282.4(STING1):c.345G>T (p.Pro115=)	LOC123522803, STING1	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 1124221	NM_198282.4(STING1):c.345G>A (p.Pro115=)	LOC123522803, STING1	Single nucleotide variant (5 prime UTR variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 1312069	NM_198282.4(STING1):c.344del (p.Pro115fs)	LOC123522803, STING1 (P115fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 839783	NM_198282.4(STING1):c.344C>T (p.Pro115Leu)	LOC123522803, STING1 (P115L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 712331	NM_198282.4(STING1):c.340G>A (p.Gly114Ser)	LOC123522803, STING1 (G114S)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy +1 more	GLikely benign
Select item 1680265	NM_198282.4(STING1):c.339C>T (p.Val113=)	LOC123522803, STING1	Single nucleotide variant (5 prime UTR variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 1680266	NM_198282.4(STING1):c.337G>A (p.Val113Ile)	LOC123522803, STING1 (V113I)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 1007660	NM_198282.4(STING1):c.336G>A (p.Ala112=)	LOC123522803, STING1	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2989335	NM_198282.4(STING1):c.335C>T (p.Ala112Val)	LOC123522803, STING1 (A112V)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2831119	NM_198282.4(STING1):c.333T>A (p.Asn111Lys)	LOC123522803, STING1 (N111K)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2035717	NM_198282.4(STING1):c.330A>T (p.Pro110=)	LOC123522803, STING1	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2747305	NM_198282.4(STING1):c.325C>T (p.Leu109Phe)	LOC123522803, STING1 (L109F)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2747484	NM_198282.4(STING1):c.324C>T (p.Ser108=)	LOC123522803, STING1	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 1912704	NM_198282.4(STING1):c.300G>A (p.Leu100=)	LOC123522803, STING1	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2850369	NM_198282.4(STING1):c.290C>A (p.Ala97Asp)	LOC123522803, STING1 (A97D)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 624065	NM_198282.4(STING1):c.289G>A (p.Ala97Thr)	LOC123522803, STING1 (A97T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1680267	NM_198282.4(STING1):c.288G>A (p.Gly96=)	LOC123522803, STING1	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 1694180	NM_198282.4(STING1):c.284G>A (p.Arg95His)	LOC123522803, STING1 (R95H)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy +1 more	GUncertain significance
Select item 661503	NM_198282.4(STING1):c.281G>A (p.Arg94His)	STING1, LOC123522803 (R94H)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2982203	NM_198282.4(STING1):c.280C>T (p.Arg94Cys)	LOC123522803, STING1 (R94C)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 1685152	NM_198282.4(STING1):c.277del (p.Leu93fs)	LOC123522803, STING1 (L93fs)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 2977709	NM_198282.4(STING1):c.276C>A (p.Pro92=)	LOC123522803, STING1	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GLikely benign
Select item 2067184	NM_198282.4(STING1):c.276C>T (p.Pro92=)	LOC123522803, STING1	Single nucleotide variant (synonymous variant +1 more)	STING-associated vasculopathy with onset in infancy	GBenign
Select item 1680268	NM_198282.4(STING1):c.275C>A (p.Pro92His)	LOC123522803, STING1 (P92H)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 1694179	NM_198282.4(STING1):c.272G>A (p.Cys91Tyr)	LOC123522803, STING1 (C91Y)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 2694245	NM_198282.4(STING1):c.259G>A (p.Ala87Thr)	LOC123522803, STING1 (A87T)	Single nucleotide variant (missense variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 967163	NM_198282.4(STING1):c.257G>C (p.Arg86Pro)	LOC123522803, STING1 (R86P)	Single nucleotide variant (5 prime UTR variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 1055607	NM_198282.4(STING1):c.256C>T (p.Arg86Trp)	LOC123522803, STING1 (R86W)	Single nucleotide variant (5 prime UTR variant +1 more)	STING-associated vasculopathy with onset in infancy	GUncertain significance

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Items: 62