DYNLRB2[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 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 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 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 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 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 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 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	LOC112486211, LOC112486212 +360 more	Copy number loss	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 655227	NC_000016.10:g.(?_78278583)_(80589366_?)del	LOC132090434, LOC132090435 +47 more	Deletion	Cataract 21 multiple types +1 more	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 145976	GRCh38/hg38 16q23.1-23.3(chr16:78790450-83255421)x1	LOC130059528, LOC130059529 +162 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 57099	GRCh38/hg38 16q23.2(chr16:79455147-81109328)x1	ARLNC1, ATMIN +59 more	Copy number loss	See cases	GPathogenic
Select item 2665080	GRCh38/hg38 16q23.2-23.3(chr16:79568000-83552000)	ARLNC1, ATMIN +162 more	Copy number loss	CMIP-related neurodevelopmental disorder	GLikely pathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 3086554	NM_130897.3(DYNLRB2):c.45A>C (p.Lys15Asn)	DYNLRB2, DYNLRB2-AS1 (K44N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086555	NM_130897.3(DYNLRB2):c.49G>C (p.Val17Leu)	DYNLRB2, DYNLRB2-AS1 (V17L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086556	NM_130897.3(DYNLRB2):c.85C>T (p.Pro29Ser)	DYNLRB2, DYNLRB2-AS1 (P58S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456880	NM_130897.3(DYNLRB2):c.107A>C (p.Asn36Thr)	DYNLRB2, DYNLRB2-AS1 (N65T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086552	NM_130897.3(DYNLRB2):c.133C>G (p.Leu45Val)	DYNLRB2, DYNLRB2-AS1 (L74V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086553	NM_130897.3(DYNLRB2):c.137T>C (p.Leu46Pro)	DYNLRB2, DYNLRB2-AS1 (L75P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486977	NM_130897.3(DYNLRB2):c.152T>C (p.Met51Thr)	DYNLRB2, DYNLRB2-AS1 (M51T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223941	NM_130897.3(DYNLRB2):c.173G>A (p.Arg58His)	DYNLRB2, DYNLRB2-AS1 (R87H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468283	NM_130897.3(DYNLRB2):c.179T>C (p.Ile60Thr)	DYNLRB2, DYNLRB2-AS1 (I89T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246054	NM_130897.3(DYNLRB2):c.192C>A (p.Asn64Lys)	DYNLRB2, DYNLRB2-AS1 (N93K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 402815	NM_130897.3(DYNLRB2):c.196C>T (p.Leu66=)	DYNLRB2, DYNLRB2-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 2485837	NM_130897.3(DYNLRB2):c.200C>A (p.Thr67Asn)	DYNLRB2, DYNLRB2-AS1 (T67N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222720	NM_130897.3(DYNLRB2):c.220A>G (p.Lys74Glu)	DYNLRB2, DYNLRB2-AS1 (K103E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264715	NM_130897.3(DYNLRB2):c.253G>A (p.Glu85Lys)	DYNLRB2, DYNLRB2-AS1 (E114K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223922	NM_130897.3(DYNLRB2):c.268G>C (p.Val90Leu)	DYNLRB2, DYNLRB2-AS1 (V90L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243515	NC_000016.9:g.(?_78420737)_(81991603_?)del	ATMIN, BCO1 +12 more	Deletion	Autosomal recessive spinocerebellar ataxia 12 +1 more	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 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 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1526528	GRCh37/hg19 16q23.2(chr16:80228506-81280700)	ATMIN, BCO1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1526526	GRCh37/hg19 16q23.1-23.2(chr16:77960664-81429258)	ATMIN, BCO1 +12 more	Copy number loss	not specified	GUncertain significance
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BANP, BCO1 +102 more	Copy number gain	not provided	GPathogenic
Select item 979478	GRCh37/hg19 16q23.2-23.3(chr16:80483625-82044152)x1	ATMIN, BCO1 +11 more	Copy number loss	not provided	GLikely pathogenic
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 815850	GRCh37/hg19 16q23.2-23.3(chr16:80476611-82397606)x1	CDYL2, CENPN +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 815849	GRCh37/hg19 16q23.1-23.2(chr16:78426151-81049683)x3	CDYL2, CENPN +4 more	Copy number gain	not provided	GUncertain significance
Select item 689307	GRCh37/hg19 16q23.2-24.1(chr16:79254648-84827672)x1	ADAD2, ATMIN +34 more	Copy number loss	not provided	GUncertain significance
Select item 564356	GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3	ACSF3, ADAD2 +103 more	Copy number gain	not provided	GPathogenic
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 560156	Single allele	ATMIN, C16orf46 +6 more	Duplication	not provided	GUncertain significance
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 443549	GRCh37/hg19 16q23.2(chr16:80241243-80799888)x1	CDYL2, DYNLRB2	Copy number loss	See cases	GUncertain significance
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 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic
Select item 221527	GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	ACSF3, ADAD2 +140 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 218968	t(5;16)(p15.31;q23.1)	C16orf46, C16orf74 +150 more	Translocation	not provided	GLikely pathogenic

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Items: 64