BCYRN1[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 153532	GRCh38/hg38 2p21-16.3(chr2:46415109-48203207)x3	LOC129933708, LOC129933709 +104 more	Copy number gain	See cases	GUncertain significance
Select item 148501	GRCh38/hg38 2p21(chr2:46592232-47488001)x3	BCYRN1, CALM2 +53 more	Copy number gain	See cases	GLikely benign
Select item 144457	GRCh38/hg38 2p21-16.3(chr2:46806218-50565538)x1	BCYRN1, CALM2 +94 more	Copy number loss	See cases	GPathogenic
Select item 150869	GRCh38/hg38 2p21-16.3(chr2:47089663-48479681)x3	BCYRN1, CALM2 +60 more	Copy number gain	See cases	GLikely pathogenic
Select item 58843	GRCh38/hg38 2p21-16.3(chr2:47206008-47600171)x3	BCYRN1, EPCAM +21 more	Copy number gain	See cases	GUncertain significance
Select item 3247117	NC_000002.11:g.(?_47540053)_(47656931_?)del	BCYRN1, EPCAM +1 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2503487	GRCh37/hg19 2p21(chr2:47511660-47641537)x1	BCYRN1, EPCAM +1 more	Copy number loss	Lynch syndrome 1	GPathogenic
Select item 2503483	GRCh37/hg19 2p21(chr2:47547722-47641537)x1	BCYRN1, EPCAM +1 more	Copy number loss	Lynch syndrome 1	GPathogenic
Select item 2442248	NC_000002.11:g.47470308_47807597del	BCYRN1, EPCAM +3 more	Deletion	Lynch syndrome 1	GPathogenic
Select item 2422665	NC_000002.11:g.(?_38121051)_(47710088_?)dup	CAMKMT, CDKL4 +52 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	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 1432421	NC_000002.11:g.(?_47510090)_(47637485_?)del	BCYRN1, EPCAM +1 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 1341006	GRCh37/hg19 2p21-16.3(chr2:47550425-48041798)x3	BCYRN1, EPCAM +5 more	Copy number gain	not provided	GUncertain significance
Select item 979359	GRCh37/hg19 2p21-16.3(chr2:47469710-48143700)x3	KCNK12, BCYRN1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 814243	GRCh37/hg19 2p21(chr2:46179259-47646894)x3	TTC7A, ATP6V1E2 +13 more	Copy number gain	not provided	GUncertain significance
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 562630	GRCh37/hg19 2p21(chr2:46557702-47744377)x3	CALM2, ATP6V1E2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 562629	GRCh37/hg19 2p21-16.3(chr2:46978055-48131152)x3	EPCAM, FBXO11 +10 more	Copy number gain	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443119	GRCh37/hg19 2p21(chr2:47414693-47636335)x1	BCYRN1, EPCAM +1 more	Copy number loss	See cases	GPathogenic
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 442274	GRCh37/hg19 2p21-16.2(chr2:47361260-54934153)x1	ACYP2, ASB3 +25 more	Copy number loss	See cases	GPathogenic
Select item 442260	GRCh37/hg19 2p21(chr2:47280431-47714665)x1	BCYRN1, CALM2 +4 more	Copy number loss	See cases	GPathogenic
Select item 429039	NC_000002.11:g.38121110_47669522inv	PKDCC, PLEKHH2 +52 more	Inversion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic

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Items: 30