DNAJC27[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	ATAD2B, ATP6V1C2 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	ABHD1, ACP1 +1047 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933312, LOC129933313 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	C2orf48, C2orf50 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 3273129	NM_016544.3(DNAJC27):c.707C>T (p.Ala236Val)	DNAJC27 (A236V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2514459	NM_016544.3(DNAJC27):c.686C>T (p.Ser229Leu)	DNAJC27 (S229L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375415	NM_016544.3(DNAJC27):c.629G>A (p.Arg210His)	DNAJC27 (R210H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404631	NM_016544.3(DNAJC27):c.628C>T (p.Arg210Cys)	DNAJC27 (R210C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084565	NM_016544.3(DNAJC27):c.610G>A (p.Glu204Lys)	DNAJC27 (E204K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536573	NM_016544.3(DNAJC27):c.594T>A (p.Ser198Arg)	DNAJC27 (S198R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084564	NM_016544.3(DNAJC27):c.532T>G (p.Phe178Val)	DNAJC27 (F178V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311150	NM_016544.3(DNAJC27):c.503G>A (p.Gly168Glu)	DNAJC27 (G168E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233526	NM_016544.3(DNAJC27):c.425G>A (p.Arg142His)	DNAJC27 (R142H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084563	NM_016544.3(DNAJC27):c.386T>C (p.Phe129Ser)	DNAJC27 (F129S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084562	NM_016544.3(DNAJC27):c.283G>T (p.Val95Phe)	DNAJC27 (V95F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461707	NM_016544.3(DNAJC27):c.224A>G (p.His75Arg)	DNAJC27 (H75R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490059	NM_016544.3(DNAJC27):c.178G>A (p.Val60Ile)	DNAJC27 (V60I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084561	NM_016544.3(DNAJC27):c.113A>G (p.Glu38Gly)	DNAJC27 (E38G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548583	NM_016544.3(DNAJC27):c.65T>C (p.Met22Thr)	DNAJC27 (M22T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456878	NM_016544.3(DNAJC27):c.41C>G (p.Ser14Cys)	DNAJC27 (S14C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263228	NM_016544.3(DNAJC27):c.38G>A (p.Arg13Lys)	DNAJC27 (R13K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3247408	NC_000002.11:g.(?_24443763)_(26068452_?)dup	ADCY3, ASXL2 +9 more	Duplication	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 3247406	NC_000002.11:g.(?_24443763)_(25536853_?)del	ADCY3, CENPO +7 more	Deletion	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 2498866	GRCh37/hg19 2p23.3(chr2:24962301-26257604)x1	ADCY3, ASXL2 +10 more	Copy number loss	not provided	GUncertain significance
Select item 2427541	NC_000002.11:g.(?_24443763)_(29022169_?)dup	ZNF513, SLC5A6 +65 more	Duplication	not provided	GUncertain significance
Select item 2427540	NC_000002.11:g.(?_24443763)_(26029226_?)del	ADCY3, ASXL2 +9 more	Deletion	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 2425074	NC_000002.11:g.(?_24443763)_(30143525_?)dup	SLC4A1AP, OTOF +72 more	Duplication	not provided	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1808132	GRCh37/hg19 2p23.3(chr2:25163058-25461523)x3	DNAJC27, DNMT3A +2 more	Copy number gain	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1701798	GRCh37/hg19 2p23.3(chr2:24641638-26473160)x1	NCOA1, POMC +13 more	Copy number loss	Tatton-Brown-Rahman overgrowth syndrome +1 more	Gnot provided
Select item 1695897	GRCh37/hg19 2p23.3(chr2:24653863-25574264)x1	ADCY3, CENPO +6 more	Copy number loss	not provided	Gnot provided
Select item 1686655	GRCh37/hg19 2p24.1-23.3(chr2:22439520-25608211)x1	FAM228A, FAM228B +19 more	Copy number loss	2p24.1p23.3 microdeletion syndrome	GPathogenic
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	DNAJC27, DNAJC5G +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 814224	GRCh37/hg19 2p23.3(chr2:24710112-25987357)x1	ASXL2, ADCY3 +8 more	Copy number loss	not provided	GUncertain significance
Select item 562654	GRCh37/hg19 2p23.3(chr2:24315204-26384655)x3	DNMT3A, ADCY3 +14 more	Copy number gain	not provided	GUncertain significance
Select item 559502	GRCh37/hg19 2p23.3(chr2:24807000-25700000)x3	CENPO, PTRHD1 +7 more	Copy number gain	Fetal growth restriction +4 more	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 441048	GRCh37/hg19 2p23.3(chr2:24235780-25700427)x1	CENPO, ADCY3 +16 more	Copy number loss	not provided	Gnot provided

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 47