ClinVar for Gene (Select 51277) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3247408	NC_000002.11:g.(?_24443763)_(26068452_?)dup	NCOA1, POMC +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 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 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 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 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 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 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 2498866	GRCh37/hg19 2p23.3(chr2:24962301-26257604)x1	ADCY3, ASXL2 +10 more	Copy number loss	not provided	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 2461707	NM_016544.3(DNAJC27):c.224A>G (p.His75Arg)	DNAJC27 (H75R)	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 2427541	NC_000002.11:g.(?_24443763)_(29022169_?)dup	ABHD1, ADCY3 +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	ADGRF3, AGBL5 +72 more	Duplication	not provided	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 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 2311150	NM_016544.3(DNAJC27):c.503G>A (p.Gly168Glu)	DNAJC27 (G168E)	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 2233526	NM_016544.3(DNAJC27):c.425G>A (p.Arg142His)	DNAJC27 (R142H)	Single nucleotide variant (missense variant)	not specified	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
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
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 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 47