23028[HGNC] - ClinVar

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Items: 67

	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 3085429	NM_022355.4(DPEP2):c.1406T>C (p.Met469Thr)	DPEP2 (M469T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526902	NM_022355.4(DPEP2):c.1396T>C (p.Ser466Pro)	DPEP2 (S308P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085428	NM_022355.4(DPEP2):c.1298T>C (p.Leu433Pro)	DPEP2 (L433P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590632	NM_022355.4(DPEP2):c.1295G>A (p.Arg432His)	DPEP2 (R274H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3085427	NM_022355.4(DPEP2):c.1292C>T (p.Ser431Leu)	DPEP2 (S431L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465902	NM_022355.4(DPEP2):c.1285G>A (p.Asp429Asn)	DPEP2 (D271N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085426	NM_022355.4(DPEP2):c.1253C>T (p.Pro418Leu)	DPEP2 (P260L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214186	NM_022355.4(DPEP2):c.1184G>A (p.Arg395Gln)	DPEP2 (R237Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269255	NM_022355.4(DPEP2):c.1162G>A (p.Val388Ile)	DPEP2 (V388I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085425	NM_022355.4(DPEP2):c.1149A>C (p.Glu383Asp)	DPEP2 (E383D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412519	NM_022355.4(DPEP2):c.959A>C (p.Gln320Pro)	DPEP2, LOC130059259 (Q320P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317965	NM_022355.4(DPEP2):c.892G>T (p.Asp298Tyr)	DPEP2 (D298Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612016	NM_022355.4(DPEP2):c.848C>T (p.Ser283Leu)	DPEP2 (S283L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381424	NM_022355.4(DPEP2):c.833T>A (p.Val278Glu)	DPEP2 (V120E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391175	NM_022355.4(DPEP2):c.826G>A (p.Ala276Thr)	DPEP2 (A276T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085435	NM_022355.4(DPEP2):c.817G>A (p.Val273Met)	DPEP2 (V115M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334363	NM_022355.4(DPEP2):c.814G>A (p.Glu272Lys)	DPEP2 (E114K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329907	NM_022355.4(DPEP2):c.803G>A (p.Arg268Gln)	DPEP2 (R268Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524091	NM_022355.4(DPEP2):c.802C>T (p.Arg268Trp)	DPEP2 (R110W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455995	NM_022355.4(DPEP2):c.712G>A (p.Gly238Arg)	DPEP2 (G80R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273567	NM_022355.4(DPEP2):c.635C>T (p.Thr212Met)	DPEP2 (T54M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2646649	NM_022355.4(DPEP2):c.510C>T (p.Thr170=)	DPEP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2267476	NM_022355.4(DPEP2):c.470G>A (p.Arg157His)	DPEP2 (R157H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3085434	NM_022355.4(DPEP2):c.440G>A (p.Arg147His)	DPEP2 (R147H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2360397	NM_022355.4(DPEP2):c.376C>G (p.Leu126Val)	DPEP2 (L126V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2338190	NM_022355.4(DPEP2):c.275T>C (p.Leu92Pro)	DPEP2, LOC130059261 (L92P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085432	NM_022355.4(DPEP2):c.261C>G (p.Asp87Glu)	DPEP2 (D87E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3273569	NM_022355.4(DPEP2):c.254T>A (p.Leu85His)	DPEP2 (L85H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085431	NM_022355.4(DPEP2):c.233C>T (p.Ala78Val)	DPEP2 (A78V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2470054	NM_022355.4(DPEP2):c.230G>A (p.Arg77Gln)	DPEP2 (R77Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2274725	NM_022355.4(DPEP2):c.190C>T (p.Leu64Phe)	DPEP2 (L64F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2547796	NM_022355.4(DPEP2):c.175G>A (p.Ala59Thr)	DPEP2 (A59T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2248889	NM_022355.4(DPEP2):c.158C>G (p.Thr53Ser)	DPEP2 (T53S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3273568	NM_022355.4(DPEP2):c.116C>T (p.Pro39Leu)	DPEP2 (P39L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3273570	NM_022355.4(DPEP2):c.107C>A (p.Thr36Lys)	DPEP2 (T36K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085433	NM_022355.4(DPEP2):c.38G>C (p.Gly13Ala)	DPEP2 (G13A)	Single nucleotide variant (missense variant +2 more)	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: 67