3712[HGNC] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 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 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 148077	GRCh38/hg38 2p24.1-23.3(chr2:23789282-24087112)x1	ATAD2B, FAM228B +19 more	Copy number loss	See cases	GUncertain significance
Select item 2242234	NM_025203.3(WDCP):c.1666C>G (p.Gln556Glu)	FKBP1B, WDCP (Q556E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361511	NM_025203.3(WDCP):c.1637A>G (p.Lys546Arg)	FKBP1B, WDCP (K546R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385752	NM_025203.3(WDCP):c.1555A>G (p.Thr519Ala)	FKBP1B, WDCP (T519A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327000	NM_025203.3(WDCP):c.820T>C (p.Ser274Pro)	FKBP1B, WDCP (S274P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240012	NM_025203.3(WDCP):c.600T>A (p.Phe200Leu)	FKBP1B, WDCP (F200L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533927	NM_004116.5(FKBP1B):c.194C>G (p.Ala65Gly)	FKBP1B (A36G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 1808931	GRCh37/hg19 2p24.1-23.3(chr2:23908436-24636185)x3	ATAD2B, FAM228A +10 more	Copy number gain	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 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 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 562668	GRCh37/hg19 2p24.1-23.3(chr2:19905995-24762790)x1	APOB, ATAD2B +22 more	Copy number loss	not provided	GPathogenic
Select item 562549	GRCh37/hg19 2p23.3(chr2:24058035-24283976)x1	FKBP1B, UBXN2A +3 more	Copy number loss	not provided	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

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Items: 26