IFI16[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 2474317	NM_001376587.1(IFI16):c.163A>G (p.Lys55Glu)	IFI16 (K55E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108116	NM_001376587.1(IFI16):c.212A>G (p.Asp71Gly)	IFI16 (D71G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285289	NM_001376587.1(IFI16):c.232C>G (p.Leu78Val)	IFI16 (L78V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639481	NM_001376587.1(IFI16):c.277G>A (p.Ala93Thr)	IFI16, LOC126805886 (A93T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2483567	NM_001376587.1(IFI16):c.322G>T (p.Ala108Ser)	IFI16, LOC126805886 (A108S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494210	NM_001376587.1(IFI16):c.325C>G (p.Pro109Ala)	IFI16, LOC126805886 (P109A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218982	NM_001376587.1(IFI16):c.329C>T (p.Ser110Phe)	IFI16, LOC126805886 (S110F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309315	NM_001376587.1(IFI16):c.341C>T (p.Thr114Ile)	IFI16, LOC126805886 (T114I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285291	NM_001376587.1(IFI16):c.409G>T (p.Ala137Ser)	IFI16 (A137S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108118	NM_001376587.1(IFI16):c.409G>C (p.Ala137Pro)	IFI16 (A137P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276430	NM_001376587.1(IFI16):c.457T>G (p.Ser153Ala)	IFI16 (S153A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455030	NM_001376587.1(IFI16):c.472G>A (p.Gly158Ser)	IFI16 (G158S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2604913	NM_001376587.1(IFI16):c.489G>A (p.Met163Ile)	IFI16 (M163I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457845	NM_001376587.1(IFI16):c.554C>T (p.Pro185Leu)	IFI16 (P129L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589439	NM_001376587.1(IFI16):c.607C>T (p.Arg203Cys)	IFI16 (R147C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325165	NM_001376587.1(IFI16):c.805A>G (p.Ser269Gly)	IFI16 (S269G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393641	NM_001376587.1(IFI16):c.825A>T (p.Glu275Asp)	IFI16 (E219D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292503	NM_001376587.1(IFI16):c.835G>A (p.Val279Ile)	IFI16 (V279I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108119	NM_001376587.1(IFI16):c.850C>A (p.Pro284Thr)	IFI16 (P284T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639482	NM_001376587.1(IFI16):c.850C>T (p.Pro284Ser)	IFI16 (P228S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3108120	NM_001376587.1(IFI16):c.868G>A (p.Val290Ile)	IFI16 (V234I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607615	NM_001376587.1(IFI16):c.876T>G (p.Asn292Lys)	IFI16 (N236K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108121	NM_001376587.1(IFI16):c.922C>T (p.His308Tyr)	IFI16 (H252Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212297	NM_001376587.1(IFI16):c.944T>C (p.Ile315Thr)	IFI16 (I259T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108122	NM_001376587.1(IFI16):c.990G>T (p.Lys330Asn)	IFI16 (K274N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285290	NM_001376587.1(IFI16):c.1003G>A (p.Glu335Lys)	IFI16 (E279K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325164	NM_001376587.1(IFI16):c.1051T>C (p.Cys351Arg)	IFI16 (C295R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226218	NM_001376587.1(IFI16):c.1112A>T (p.Lys371Ile)	IFI16 (K371I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285297	NM_001376587.1(IFI16):c.1136T>C (p.Ile379Thr)	IFI16 (I323T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285292	NM_001376587.1(IFI16):c.1181C>T (p.Pro394Leu)	IFI16 (P394L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232235	NM_001376587.1(IFI16):c.1226G>A (p.Arg409His)	IFI16 (R353H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108111	NM_001376587.1(IFI16):c.1280G>A (p.Arg427Gln)	IFI16 (R371Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2404310	NM_001376587.1(IFI16):c.1325C>T (p.Thr442Ile)	IFI16 (T386I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2517481	NM_001376587.1(IFI16):c.1345A>G (p.Ile449Val)	IFI16 (I449V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285296	NM_001376587.1(IFI16):c.1397A>G (p.His466Arg)	IFI16 (H410R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312464	NM_001376587.1(IFI16):c.1400T>C (p.Phe467Ser)	IFI16 (F467S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108112	NM_001376587.1(IFI16):c.1439G>A (p.Ser480Asn)	IFI16 (S424N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458211	NM_001376587.1(IFI16):c.1481G>A (p.Ser494Asn)	IFI16 (S438N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781929	NM_001376587.1(IFI16):c.1493C>T (p.Thr498Ile)	IFI16 (T442I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2249917	NM_001376587.1(IFI16):c.1705A>G (p.Ile569Val)	IFI16 (I569V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263993	NM_001376587.1(IFI16):c.1784A>G (p.Glu595Gly)	IFI16 (E539G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285295	NM_001376587.1(IFI16):c.1786C>G (p.Gln596Glu)	IFI16 (Q596E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262064	NM_001376587.1(IFI16):c.1796T>G (p.Met599Arg)	IFI16 (M543R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412434	NM_001376587.1(IFI16):c.1814C>T (p.Ala605Val)	IFI16 (A493V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334715	NM_001376587.1(IFI16):c.1831T>C (p.Phe611Leu)	IFI16 (F499L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266140	NM_001376587.1(IFI16):c.1835G>A (p.Arg612Gln)	IFI16 (R500Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3285294	NM_001376587.1(IFI16):c.1841A>T (p.Lys614Met)	IFI16 (K558M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108113	NM_001376587.1(IFI16):c.1888A>T (p.Ile630Phe)	IFI16 (I630F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108114	NM_001376587.1(IFI16):c.1894A>G (p.Ile632Val)	IFI16 (I520V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352885	NM_001376587.1(IFI16):c.1896A>G (p.Ile632Met)	IFI16 (I520M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465318	NM_001376587.1(IFI16):c.1951G>A (p.Ala651Thr)	IFI16 (A651T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285288	NM_001376587.1(IFI16):c.1976T>C (p.Met659Thr)	IFI16 (M547T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330285	NM_001376587.1(IFI16):c.2068G>A (p.Val690Met)	IFI16 (V578M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535496	NM_001376587.1(IFI16):c.2152G>C (p.Val718Leu)	IFI16 (V606L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561818	NM_001376587.1(IFI16):c.2162G>A (p.Arg721Gln)	IFI16 (R609Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275420	NM_001376587.1(IFI16):c.2182G>A (p.Glu728Lys)	IFI16 (E616K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270524	NM_001376587.1(IFI16):c.2184G>T (p.Glu728Asp)	IFI16 (E616D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108115	NM_001376587.1(IFI16):c.2185G>A (p.Glu729Lys)	IFI16 (E617K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285293	NM_001376587.1(IFI16):c.2264A>G (p.His755Arg)	IFI16 (H643R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108117	NM_001376587.1(IFI16):c.2321A>G (p.Asp774Gly)	IFI16 (D662G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1230050	NM_001376587.1(IFI16):c.2335A>T (p.Thr779Ser)	IFI16 (T667S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2455366	NM_001376587.1(IFI16):c.2346C>G (p.Asp782Glu)	IFI16 (D670E +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	ACKR1, ADAMTS4 +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1340287	GRCh37/hg19 1q23.1-23.2(chr1:158822741-159244974)x3	ACKR1, AIM2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441719	GRCh37/hg19 1q23.1-23.2(chr1:158685035-159301350)x3	ACKR1, AIM2 +10 more	Copy number gain	See cases	GUncertain significance

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Items: 74