ClinVar for Gene (Select 285051) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3171557	NM_001163561.2(STPG4):c.368C>G (p.Pro123Arg)	STPG4 (P123R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426558	NC_000002.11:g.(?_47256343)_(47397923_?)dup	CALM2, STPG4 +1 more	Duplication	Multiple gastrointestinal atresias	GUncertain significance
Select item 2422665	NC_000002.11:g.(?_38121051)_(47710088_?)dup	ABCG5, ABCG8 +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 814243	GRCh37/hg19 2p21(chr2:46179259-47646894)x3	TTC7A, ATP6V1E2 +13 more	Copy number gain	not provided	GUncertain significance
Select item 619019	NC_000002.12:g.47142010_47142443dup	EPCAM, STPG4	Duplication	Lynch syndrome	GLikely benign
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 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	RHOQ, SRBD1 +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
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 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
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 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 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 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

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Links from Gene

Items: 24