5699[geneid] - ClinVar

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Items: 59

	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 2435274	NM_002801.4(PSMB10):c.736G>A (p.Gly246Arg)	PSMB10 (G246R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3310960	NM_002801.4(PSMB10):c.719G>T (p.Arg240Leu)	PSMB10 (R240L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532008	NM_002801.4(PSMB10):c.718C>T (p.Arg240Cys)	PSMB10 (R240C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220360	NM_002801.4(PSMB10):c.711G>A (p.Arg237=)	PSMB10	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3241967	NM_002801.4(PSMB10):c.710+1G>C	PSMB10	Single nucleotide variant (splice donor variant)	Proteasome-associated autoinflammatory syndrome 5	GPathogenic
Select item 3220359	NM_002801.4(PSMB10):c.703G>A (p.Val235Met)	PSMB10 (V235M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646645	NM_002801.4(PSMB10):c.660T>C (p.Thr220=)	PSMB10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2537245	NM_002801.4(PSMB10):c.643T>A (p.Cys215Ser)	PSMB10 (C215S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2435273	NM_002801.4(PSMB10):c.629G>A (p.Gly210Asp)	PSMB10 (G210D)	Single nucleotide variant (missense variant)	Proteasome-associated autoinflammatory syndrome 5	GUncertain significance
Select item 3241969	NM_002801.4(PSMB10):c.601G>C (p.Gly201Arg)	PSMB10 (G201R)	Single nucleotide variant (missense variant)	Immunodeficiency 121 with autoinflammation	GPathogenic
Select item 3241968	NM_002801.4(PSMB10):c.601G>A (p.Gly201Arg)	PSMB10 (G201R)	Single nucleotide variant (missense variant)	Immunodeficiency 121 with autoinflammation	GPathogenic
Select item 3241965	NM_002801.4(PSMB10):c.500G>A (p.Gly167Asp)	LOC130059250, PSMB10 (G167D)	Single nucleotide variant (missense variant)	Proteasome-associated autoinflammatory syndrome 5	GPathogenic
Select item 2277623	NM_002801.4(PSMB10):c.424G>A (p.Val142Ile)	PSMB10 (V142I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340691	NM_002801.4(PSMB10):c.401G>A (p.Gly134Asp)	PSMB10 (G134D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3344355	NM_002801.4(PSMB10):c.392G>A (p.Gly131Asp)	PSMB10 (G131D)	Single nucleotide variant (missense variant)	PSMB10-related disorder	GUncertain significance
Select item 3220357	NM_002801.4(PSMB10):c.367C>T (p.Arg123Cys)	PSMB10 (R123C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518708	NM_002801.4(PSMB10):c.361A>G (p.Ile121Val)	PSMB10 (I121V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3220356	NM_002801.4(PSMB10):c.251G>A (p.Gly84Glu)	PSMB10 (G84E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3241966	NM_002801.4(PSMB10):c.247dup (p.Cys83fs)	PSMB10 (C83fs)	Duplication (frameshift variant)	Proteasome-associated autoinflammatory syndrome 5	GPathogenic
Select item 3380398	NM_002801.4(PSMB10):c.218T>C (p.Ile73Thr)	PSMB10 (I73T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2630424	NM_002801.4(PSMB10):c.212AGA[1] (p.Lys72del)	PSMB10 (K72del)	Microsatellite (inframe_deletion)	PSMB10-related disorder	GUncertain significance
Select item 3241970	NM_002801.4(PSMB10):c.166G>C (p.Asp56His)	LOC130059252, PSMB10 (D56H)	Single nucleotide variant (missense variant)	Immunodeficiency 121 with autoinflammation	GPathogenic
Select item 2343178	NM_002801.4(PSMB10):c.148G>C (p.Gly50Arg)	LOC130059252, PSMB10 (G50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646646	NM_002801.4(PSMB10):c.53A>C (p.Gln18Pro)	PSMB10 (Q18P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3220358	NM_002801.4(PSMB10):c.45G>T (p.Glu15Asp)	PSMB10 (E15D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3241964	NM_002801.4(PSMB10):c.40_42del (p.Phe14del)	PSMB10 (F14del)	Deletion (inframe_deletion)	Proteasome-associated autoinflammatory syndrome 5	GPathogenic
Select item 997016	NM_002801.4(PSMB10):c.41T>C (p.Phe14Ser)	PSMB10 (F14S)	Single nucleotide variant (missense variant)	Proteasome-associated autoinflammatory syndrome 5	GPathogenic
Select item 2646647	NM_002801.4(PSMB10):c.9G>A (p.Lys3=)	PSMB10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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: 59