ClinVar for Gene (Select 55783) - ClinVar

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Links from Gene

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3268016	NM_018348.6(CMTR2):c.1519T>A (p.Cys507Ser)	CMTR2 (C507S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268015	NM_018348.6(CMTR2):c.1720C>T (p.Pro574Ser)	CMTR2 (P574S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268014	NM_018348.6(CMTR2):c.2148C>G (p.Asp716Glu)	CMTR2 (D716E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268013	NM_018348.6(CMTR2):c.1138C>T (p.Arg380Cys)	CMTR2 (R380C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268012	NM_018348.6(CMTR2):c.1107A>T (p.Lys369Asn)	CMTR2 (K369N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268011	NM_018348.6(CMTR2):c.62A>T (p.Asp21Val)	CMTR2 (D21V)	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 3146304	NM_018348.6(CMTR2):c.91G>T (p.Ala31Ser)	CMTR2 (A31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146303	NM_018348.6(CMTR2):c.835A>G (p.Met279Val)	CMTR2 (M279V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146302	NM_018348.6(CMTR2):c.317T>G (p.Val106Gly)	CMTR2 (V106G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146301	NM_018348.6(CMTR2):c.286G>C (p.Gly96Arg)	CMTR2 (G96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146300	NM_018348.6(CMTR2):c.2301G>T (p.Gln767His)	CMTR2 (Q767H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146299	NM_018348.6(CMTR2):c.2075A>G (p.Gln692Arg)	CMTR2 (Q692R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146298	NM_018348.6(CMTR2):c.1916C>T (p.Thr639Ile)	CMTR2 (T639I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146297	NM_018348.6(CMTR2):c.1904G>A (p.Arg635Gln)	CMTR2 (R635Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3146296	NM_018348.6(CMTR2):c.182A>G (p.Asn61Ser)	CMTR2 (N61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146295	NM_018348.6(CMTR2):c.1640G>C (p.Cys547Ser)	CMTR2 (C547S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146294	NM_018348.6(CMTR2):c.1607A>G (p.Lys536Arg)	CMTR2 (K536R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146292	NM_018348.6(CMTR2):c.1508C>G (p.Pro503Arg)	CMTR2 (P503R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146291	NM_018348.6(CMTR2):c.1415G>T (p.Gly472Val)	CMTR2 (G472V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146290	NM_018348.6(CMTR2):c.1029G>T (p.Arg343Ser)	CMTR2 (R343S)	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 2684814	GRCh37/hg19 16q22.2(chr16:70823633-71541641)x3	CALB2, CMTR2 +4 more	Copy number gain	not provided	GUncertain significance
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 2684811	GRCh37/hg19 16q22.1-22.2(chr16:70179556-71750471)x3	AARS1, CALB2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 2484523	NM_018348.6(CMTR2):c.1538G>A (p.Gly513Asp)	CMTR2 (G513D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477884	NM_018348.6(CMTR2):c.1405G>A (p.Glu469Lys)	CMTR2 (E469K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476609	NM_018348.6(CMTR2):c.1011T>G (p.Phe337Leu)	CMTR2 (F337L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468801	NM_018348.6(CMTR2):c.1163C>T (p.Ala388Val)	CMTR2 (A388V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467518	NM_018348.6(CMTR2):c.1765C>T (p.Arg589Cys)	CMTR2 (R589C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466098	NM_018348.6(CMTR2):c.165T>G (p.Cys55Trp)	CMTR2 (C55W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2398044	NM_018348.6(CMTR2):c.1799G>A (p.Arg600Gln)	CMTR2 (R600Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386505	NM_018348.6(CMTR2):c.46G>A (p.Ala16Thr)	CMTR2 (A16T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371111	NM_018348.6(CMTR2):c.1474C>T (p.His492Tyr)	CMTR2 (H492Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349103	NM_018348.6(CMTR2):c.1316A>G (p.Lys439Arg)	CMTR2 (K439R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2346840	NM_018348.6(CMTR2):c.485G>A (p.Arg162Gln)	CMTR2 (R162Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341329	NM_018348.6(CMTR2):c.2050G>A (p.Ala684Thr)	CMTR2 (A684T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298107	NM_018348.6(CMTR2):c.2056C>G (p.Leu686Val)	CMTR2 (L686V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296838	NM_018348.6(CMTR2):c.1766G>C (p.Arg589Pro)	CMTR2 (R589P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285223	NM_018348.6(CMTR2):c.1766G>T (p.Arg589Leu)	CMTR2 (R589L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272849	NM_018348.6(CMTR2):c.831T>A (p.Phe277Leu)	CMTR2 (F277L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258034	NM_018348.6(CMTR2):c.451A>C (p.Ile151Leu)	CMTR2 (I151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238328	NM_018348.6(CMTR2):c.1957A>G (p.Arg653Gly)	CMTR2 (R653G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213692	NM_018348.6(CMTR2):c.918C>G (p.Ser306Arg)	CMTR2 (S306R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707463	Single allele	AP1G1, CALB2 +36 more	Duplication	not specified	GUncertain significance
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 687301	GRCh37/hg19 16q22.1-22.2(chr16:70467293-71560136)x3	CALB2, CHST4 +11 more	Copy number gain	not provided	GUncertain significance
Select item 564340	GRCh37/hg19 16q22.2(chr16:71298712-71386890)x1	CMTR2	Copy number loss	not provided	GUncertain significance
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 148810	GRCh38/hg38 16q22.1-22.2(chr16:69918076-71541872)x3	AARS1, CALB2 +84 more	Copy number gain	See cases	GUncertain significance
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: 80