DUS2[gene] - ClinVar

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Items: 61

	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	MIR138-2, MIR140 +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	LOC130059829, LOC130059830 +1429 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 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 3274018	NM_017803.5(DUS2):c.95T>C (p.Leu32Pro)	DUS2 (L32P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086206	NM_017803.5(DUS2):c.107C>T (p.Ala36Val)	DUS2 (A36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517798	NM_017803.5(DUS2):c.125A>C (p.Glu42Ala)	DUS2 (E42A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533587	NM_017803.5(DUS2):c.161G>A (p.Arg54Lys)	DUS2 (R54K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284922	NM_017803.5(DUS2):c.302G>C (p.Arg101Thr)	DUS2 (R101T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086211	NM_017803.5(DUS2):c.428C>T (p.Thr143Ile)	DUS2 (T108I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086212	NM_017803.5(DUS2):c.511C>T (p.Arg171Trp)	DUS2 (R136W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513513	NM_017803.5(DUS2):c.541G>A (p.Ala181Thr)	DUS2 (A146T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509829	NM_017803.5(DUS2):c.559C>T (p.Arg187Trp)	DUS2 (R187W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317644	NM_017803.5(DUS2):c.569G>A (p.Arg190Gln)	DUS2 (R155Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086214	NM_017803.5(DUS2):c.659A>G (p.His220Arg)	DUS2 (H185R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518539	NM_017803.5(DUS2):c.731C>G (p.Ala244Gly)	DUS2 (A209G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469478	NM_017803.5(DUS2):c.751A>G (p.Ile251Val)	DUS2 (I251V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086215	NM_017803.5(DUS2):c.794A>G (p.Gln265Arg)	DUS2 (Q230R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344064	NM_017803.5(DUS2):c.812C>T (p.Ala271Val)	DUS2 (A271V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086216	NM_017803.5(DUS2):c.814G>A (p.Val272Met)	DUS2 (V237M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470226	NM_017803.5(DUS2):c.827A>G (p.Asn276Ser)	DUS2 (N241S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469971	NM_017803.5(DUS2):c.884C>T (p.Ser295Leu)	DUS2 (S295L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086217	NM_017803.5(DUS2):c.950G>A (p.Gly317Asp)	DUS2, LOC130059264 (G282D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086204	NM_017803.5(DUS2):c.1023G>C (p.Gln341His)	DUS2 (Q341H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086205	NM_017803.5(DUS2):c.1037C>T (p.Ala346Val)	DUS2 (A346V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401772	NM_017803.5(DUS2):c.1136G>A (p.Arg379Gln)	DUS2 (R379Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274021	NM_017803.5(DUS2):c.1156C>T (p.Pro386Ser)	DUS2 (P386S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592938	NM_017803.5(DUS2):c.1190G>A (p.Arg397His)	DUS2 (R362H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298532	NM_017803.5(DUS2):c.1205T>A (p.Ile402Asn)	DUS2 (I367N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086208	NM_017803.5(DUS2):c.1289G>A (p.Cys430Tyr)	DUS2 (C430Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086209	NM_017803.5(DUS2):c.1352G>A (p.Arg451Gln)	DUS2 (R416Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086210	NM_017803.5(DUS2):c.1357A>T (p.Arg453Trp)	DUS2 (R453W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375370	NM_017803.5(DUS2):c.1427A>G (p.Lys476Arg)	DUS2 (K441R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274022	NM_017803.5(DUS2):c.1445T>G (p.Leu482Trp)	DUS2 (L447W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
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	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
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 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	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 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	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

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Items: 61