TSNAXIP1[gene] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 more	Copy number loss	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059185, LOC130059186 +869 more	Copy number gain	See cases	GPathogenic
Select item 59494	GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1	ACD, AGRP +155 more	Copy number loss	See cases	GPathogenic
Select item 2620280	NM_001288990.3(TSNAXIP1):c.233G>C (p.Cys78Ser)	TSNAXIP1 (C24S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233447	NM_001288990.3(TSNAXIP1):c.242A>G (p.Asp81Gly)	TSNAXIP1 (D27G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457288	NM_001288990.3(TSNAXIP1):c.254G>A (p.Arg85Gln)	TSNAXIP1 (R31Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249867	NM_001288990.3(TSNAXIP1):c.283C>T (p.Arg95Cys)	TSNAXIP1 (S57L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2548671	NM_001288990.3(TSNAXIP1):c.464C>T (p.Ala155Val)	TSNAXIP1 (A101V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479275	NM_001288990.3(TSNAXIP1):c.506C>A (p.Ala169Asp)	TSNAXIP1 (A100D +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2314096	NM_001288990.3(TSNAXIP1):c.524C>T (p.Ala175Val)	TSNAXIP1 (A175V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183785	NM_001288990.3(TSNAXIP1):c.527A>G (p.Lys176Arg)	TSNAXIP1 (K107R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2318501	NM_001288990.3(TSNAXIP1):c.589T>C (p.Tyr197His)	TSNAXIP1 (Y109H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3183786	NM_001288990.3(TSNAXIP1):c.610A>G (p.Lys204Glu)	TSNAXIP1 (K150E +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183787	NM_001288990.3(TSNAXIP1):c.773T>G (p.Leu258Arg)	TSNAXIP1 (L258R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213621	NM_001288990.3(TSNAXIP1):c.802G>T (p.Ala268Ser)	TSNAXIP1 (A214S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537345	NM_001288990.3(TSNAXIP1):c.811C>T (p.Pro271Ser)	TSNAXIP1 (P183S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508667	NM_001288990.3(TSNAXIP1):c.817A>G (p.Ile273Val)	TSNAXIP1 (I273V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2474096	NM_001288990.3(TSNAXIP1):c.823G>T (p.Gly275Trp)	TSNAXIP1 (G206W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262190	NM_001288990.3(TSNAXIP1):c.850G>C (p.Ala284Pro)	TSNAXIP1 (A196P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183788	NM_001288990.3(TSNAXIP1):c.865C>T (p.Arg289Trp)	TSNAXIP1 (R235W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183789	NM_001288990.3(TSNAXIP1):c.881G>A (p.Arg294His)	TSNAXIP1 (R294H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183790	NM_001288990.3(TSNAXIP1):c.884C>T (p.Thr295Met)	TSNAXIP1 (T226M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225502	NM_001288990.3(TSNAXIP1):c.905T>C (p.Met302Thr)	TSNAXIP1 (M233T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466528	NM_001288990.3(TSNAXIP1):c.910G>C (p.Ala304Pro)	TSNAXIP1 (A250P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253020	NM_001288990.3(TSNAXIP1):c.946G>A (p.Glu316Lys)	TSNAXIP1 (E228K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488557	NM_001288990.3(TSNAXIP1):c.1015G>A (p.Val339Ile)	TSNAXIP1 (V285I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183791	NM_001288990.3(TSNAXIP1):c.1018C>T (p.Arg340Cys)	TSNAXIP1 (R271C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2593243	NM_001288990.3(TSNAXIP1):c.1046T>C (p.Leu349Pro)	TSNAXIP1 (L349P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285353	NM_001288990.3(TSNAXIP1):c.1070G>A (p.Arg357Gln)	TSNAXIP1 (R288Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379158	NM_001288990.3(TSNAXIP1):c.1096G>A (p.Glu366Lys)	TSNAXIP1 (E20K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225871	NM_001288990.3(TSNAXIP1):c.1115C>T (p.Thr372Met)	TSNAXIP1 (T26M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591636	NM_001288990.3(TSNAXIP1):c.1201G>A (p.Asp401Asn)	TSNAXIP1 (D332N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357948	NM_001288990.3(TSNAXIP1):c.1216G>A (p.Val406Met)	TSNAXIP1 (V352M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215061	NM_001288990.3(TSNAXIP1):c.1238C>T (p.Ser413Leu)	TSNAXIP1 (S288L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183778	NM_001288990.3(TSNAXIP1):c.1321G>A (p.Val441Met)	TSNAXIP1 (V441M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183779	NM_001288990.3(TSNAXIP1):c.1342A>G (p.Lys448Glu)	TSNAXIP1 (K448E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302643	NM_001288990.3(TSNAXIP1):c.1351G>A (p.Val451Met)	TSNAXIP1 (V382M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410990	NM_001288990.3(TSNAXIP1):c.1384C>T (p.Arg462Cys)	TSNAXIP1 (R116C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183781	NM_001288990.3(TSNAXIP1):c.1390G>T (p.Ala464Ser)	TSNAXIP1 (A118S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279327	NM_001288990.3(TSNAXIP1):c.1409C>T (p.Thr470Met)	TSNAXIP1 (T124M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479694	NM_001288990.3(TSNAXIP1):c.1469C>T (p.Ala490Val)	TSNAXIP1 (A144V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303379	NM_001288990.3(TSNAXIP1):c.1548G>A (p.Met516Ile)	TSNAXIP1 (M170I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284245	NM_001288990.3(TSNAXIP1):c.1624G>A (p.Asp542Asn)	TSNAXIP1 (D417N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161717	NM_001288990.3(TSNAXIP1):c.1756G>A (p.Ala586Thr)	TSNAXIP1 (A532T +4 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2594580	NM_001288990.3(TSNAXIP1):c.1775G>A (p.Arg592His)	TSNAXIP1 (R538H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263172	NM_001288990.3(TSNAXIP1):c.1828C>G (p.Leu610Val)	TSNAXIP1 (L264V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477800	NM_001288990.3(TSNAXIP1):c.1858G>A (p.Glu620Lys)	TSNAXIP1 (E274K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183784	NM_001288990.3(TSNAXIP1):c.1861T>G (p.Tyr621Asp)	TSNAXIP1 (Y567D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511983	NM_001288990.3(TSNAXIP1):c.1928G>A (p.Arg643Gln)	TSNAXIP1 (R518Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277544	NM_001288990.3(TSNAXIP1):c.1930G>A (p.Gly644Arg)	TSNAXIP1 (G298R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371133	NM_001288990.3(TSNAXIP1):c.1934G>A (p.Gly645Asp)	TSNAXIP1 (G299D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554123	NM_001288990.3(TSNAXIP1):c.2068A>G (p.Thr690Ala)	TSNAXIP1 (T621A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363354	NM_001288990.3(TSNAXIP1):c.2080C>T (p.Arg694Trp)	TSNAXIP1 (R569W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380011	NM_001288990.3(TSNAXIP1):c.2095G>A (p.Asp699Asn)	TSNAXIP1 (D645N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550311	NM_001288990.3(TSNAXIP1):c.2099T>C (p.Ile700Thr)	TSNAXIP1 (I354T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063446	GRCh37/hg19 16q22.1(chr16:67583728-69977397)x3	ACD, C16orf86 +48 more	Copy number gain	not specified	GUncertain significance
Select item 2684809	GRCh37/hg19 16q22.1(chr16:67498380-68754276)x3	ACD, AGRP +33 more	Copy number gain	not provided	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	AARS1, ACD +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 980684	GRCh37/hg19 16q22.1(chr16:67765964-68246270)x1	TSNAXIP1, PSMB10 +15 more	Copy number loss	not provided	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815823	GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1	EXOC3L1, ESRP2 +95 more	Copy number loss	not provided	GPathogenic
Select item 625609	GRCh37/hg19 16q22.1(chr16:67132790-68166320)	ACD, AGRP +47 more	Copy number loss	not provided	GPathogenic
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	ADCY7, ADGRG1 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 395249	GRCh37/hg19 16q22.1(chr16:67654566-68404073)x1	ACD, C16orf86 +28 more	Copy number loss	See cases	GLikely pathogenic
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	SLC7A6, SLC7A6OS +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 83