ClinVar for Gene (Select 342371) - ClinVar

Links from Gene

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3332979	NM_001137675.4(ATXN1L):c.89C>T (p.Thr30Ile)	ATXN1L (T30I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332970	NM_001137675.4(ATXN1L):c.764C>T (p.Thr255Ile)	ATXN1L (T255I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332959	NM_001137675.4(ATXN1L):c.160C>A (p.Gln54Lys)	ATXN1L (Q54K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332950	NM_001137675.4(ATXN1L):c.371A>G (p.Tyr124Cys)	ATXN1L (Y124C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332941	NM_001137675.4(ATXN1L):c.1060G>C (p.Ala354Pro)	ATXN1L (A354P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332922	NM_001137675.4(ATXN1L):c.1237A>G (p.Met413Val)	ATXN1L (M413V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332909	NM_001137675.4(ATXN1L):c.1015C>T (p.Arg339Trp)	ATXN1L (R339W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332898	NM_001137675.4(ATXN1L):c.784G>C (p.Ala262Pro)	ATXN1L (A262P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332890	NM_001137675.4(ATXN1L):c.1526C>T (p.Thr509Met)	ATXN1L (T509M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332883	NM_001137675.4(ATXN1L):c.2024A>G (p.Gln675Arg)	ATXN1L (Q675R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243655	NC_000016.9:g.(?_70286624)_(72146396_?)del	COG4, AARS1 +27 more	Deletion	not provided	GPathogenic
Select item 3243300	NC_000016.9:g.(?_68679283)_(72146396_?)del	AARS1, AP1G1 +51 more	Deletion	Immunodeficiency	GUncertain significance
Select item 3132210	NM_001137675.4(ATXN1L):c.986G>A (p.Gly329Glu)	ATXN1L (G329E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132208	NM_001137675.4(ATXN1L):c.61G>A (p.Val21Met)	ATXN1L (V21M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132207	NM_001137675.4(ATXN1L):c.422G>C (p.Gly141Ala)	ATXN1L (G141A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132206	NM_001137675.4(ATXN1L):c.325A>G (p.Thr109Ala)	ATXN1L (T109A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132205	NM_001137675.4(ATXN1L):c.2051G>A (p.Arg684His)	ATXN1L (R684H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132204	NM_001137675.4(ATXN1L):c.1897C>G (p.Arg633Gly)	ATXN1L (R633G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132203	NM_001137675.4(ATXN1L):c.1823C>G (p.Pro608Arg)	ATXN1L (P608R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132202	NM_001137675.4(ATXN1L):c.1676G>A (p.Arg559Gln)	ATXN1L (R559Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132201	NM_001137675.4(ATXN1L):c.1354G>C (p.Asp452His)	ATXN1L (D452H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132199	NM_001137675.4(ATXN1L):c.1241T>C (p.Val414Ala)	ATXN1L (V414A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132198	NM_001137675.4(ATXN1L):c.1178G>A (p.Arg393His)	ATXN1L (R393H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132197	NM_001137675.4(ATXN1L):c.1157T>A (p.Leu386Gln)	ATXN1L (L386Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132196	NM_001137675.4(ATXN1L):c.1084C>T (p.Pro362Ser)	ATXN1L (P362S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685575	GRCh37/hg19 16q22.1-22.3(chr16:69709450-73535741)x1	AARS1, AP1G1 +40 more	Copy number loss	not provided	GPathogenic
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 2558428	NM_001137675.4(ATXN1L):c.1949C>T (p.Ala650Val)	ATXN1L (A650V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556442	NM_001137675.4(ATXN1L):c.958G>A (p.Val320Ile)	ATXN1L (V320I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548749	NM_001137675.4(ATXN1L):c.1483C>T (p.Arg495Cys)	ATXN1L (R495C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544288	NM_001137675.4(ATXN1L):c.1800G>C (p.Gln600His)	ATXN1L (Q600H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536610	NM_001137675.4(ATXN1L):c.503C>T (p.Thr168Ile)	ATXN1L (T168I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527000	NM_001137675.4(ATXN1L):c.699G>A (p.Met233Ile)	ATXN1L (M233I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525661	NM_001137675.4(ATXN1L):c.685A>G (p.Ile229Val)	ATXN1L (I229V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521237	NM_001137675.4(ATXN1L):c.774G>C (p.Glu258Asp)	ATXN1L (E258D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519730	NM_001137675.4(ATXN1L):c.191G>T (p.Gly64Val)	ATXN1L (G64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515253	NM_001137675.4(ATXN1L):c.866C>A (p.Ser289Tyr)	ATXN1L (S289Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484407	NM_001137675.4(ATXN1L):c.1428G>C (p.Gln476His)	ATXN1L (Q476H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480001	NM_001137675.4(ATXN1L):c.590C>T (p.Ser197Leu)	ATXN1L (S197L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455601	NM_001137675.4(ATXN1L):c.1330G>A (p.Val444Met)	ATXN1L (V444M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2407565	NM_001137675.4(ATXN1L):c.1886G>T (p.Gly629Val)	ATXN1L (G629V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395936	NM_001137675.4(ATXN1L):c.326C>A (p.Thr109Lys)	ATXN1L (T109K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386147	NM_001137675.4(ATXN1L):c.1531G>A (p.Val511Met)	ATXN1L (V511M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353899	NM_001137675.4(ATXN1L):c.739C>A (p.Pro247Thr)	ATXN1L (P247T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346991	NM_001137675.4(ATXN1L):c.787C>G (p.Leu263Val)	ATXN1L (L263V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345967	NM_001137675.4(ATXN1L):c.31T>C (p.Cys11Arg)	ATXN1L (C11R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330821	NM_001137675.4(ATXN1L):c.1895C>T (p.Ser632Phe)	ATXN1L (S632F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311182	NM_001137675.4(ATXN1L):c.320C>T (p.Pro107Leu)	ATXN1L (P107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288711	NM_001137675.4(ATXN1L):c.1622C>G (p.Pro541Arg)	ATXN1L (P541R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272036	NM_001137675.4(ATXN1L):c.376C>A (p.Pro126Thr)	ATXN1L (P126T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271144	NM_001137675.4(ATXN1L):c.2005C>T (p.Arg669Cys)	ATXN1L (R669C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261379	NM_001137675.4(ATXN1L):c.358C>T (p.Pro120Ser)	ATXN1L (P120S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252611	NM_001137675.4(ATXN1L):c.1217A>G (p.His406Arg)	ATXN1L (H406R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250792	NM_001137675.4(ATXN1L):c.1055T>G (p.Val352Gly)	ATXN1L (V352G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250576	NM_001137675.4(ATXN1L):c.749C>A (p.Ala250Asp)	ATXN1L (A250D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248493	NM_001137675.4(ATXN1L):c.776G>T (p.Ser259Ile)	ATXN1L (S259I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248491	NM_001137675.4(ATXN1L):c.259G>A (p.Val87Met)	ATXN1L (V87M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234671	NM_001137675.4(ATXN1L):c.1795A>G (p.Ser599Gly)	ATXN1L (S599G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2233841	NM_001137675.4(ATXN1L):c.545C>A (p.Ala182Asp)	ATXN1L (A182D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232727	NM_001137675.4(ATXN1L):c.1952C>T (p.Pro651Leu)	ATXN1L (P651L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226108	NM_001137675.4(ATXN1L):c.1046A>G (p.Tyr349Cys)	ATXN1L (Y349C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221124	NM_001137675.4(ATXN1L):c.659T>C (p.Leu220Pro)	ATXN1L (L220P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809158	GRCh37/hg19 16q22.2(chr16:71799420-72372326)x1	AP1G1, ATXN1L +9 more	Copy number loss	not provided	GUncertain significance
Select item 1809139	GRCh37/hg19 16q22.2(chr16:71422334-72110927)x4	AP1G1, ATXN1L +13 more	Copy number gain	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	ACSF3, ADAD2 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1706519	GRCh37/hg19 16q22.1-23.1(chr16:68971067-74823560)x1	TXNL4B, UTP4 +59 more	Copy number loss	See cases	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1441673	NC_000016.9:g.(?_69680960)_(72146396_?)dup	AARS1, AP1G1 +37 more	Duplication	Immunodeficiency	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 815827	GRCh37/hg19 16q22.2(chr16:71822938-71974755)x1	PKD1L3, IST1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 564341	GRCh37/hg19 16q22.2-22.3(chr16:71561717-73724195)x1	TAT, PHLPP2 +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 564338	GRCh37/hg19 16q22.1-22.2(chr16:70646969-72849701)x1	CMTR2, IST1 +22 more	Copy number loss	not provided	GLikely pathogenic
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	CA7, COG8 +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	KCTD19, KIAA0513 +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	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +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	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 221525	GRCh37/hg19 16q22.2(chr16:71103288-72092204)x1	AP1G1, ATXN1L +14 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 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 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 59995	GRCh38/hg38 16q22.2-22.3(chr16:71279916-73246687)x3	AP1G1, ATXN1L +99 more	Copy number gain	See cases	GUncertain significance
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 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

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Links from Gene

Items: 98