ClinVar for Gene (Select 445582) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3257622	NM_001083538.3(POTEE):c.2412G>A (p.Leu804=)	POTEE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 2684708	GRCh37/hg19 2q21.1-21.2(chr2:131777624-134871884)x1	ARHGEF4, CCDC74A +11 more	Copy number loss	not provided	GUncertain significance
Select item 2684697	GRCh37/hg19 2q21.1(chr2:130817326-132099295)x1	AMER3, ARHGEF4 +16 more	Copy number loss	not provided	GUncertain significance
Select item 2651375	NM_001083538.3(POTEE):c.2157C>T (p.Ala719=)	POTEE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651374	NM_001083538.3(POTEE):c.471C>G (p.Leu157=)	POTEE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651373	NM_001083538.3(POTEE):c.246T>C (p.Ala82=)	POTEE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651372	NM_001083538.3(POTEE):c.13G>A (p.Val5Ile)	POTEE (V5I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1809452	GRCh37/hg19 2q21.1(chr2:131974176-132280823)x1	MZT2A, POTEE +1 more	Copy number loss	not provided	GUncertain significance
Select item 1808961	GRCh37/hg19 2q21.1(chr2:131974176-132269102)x1	MZT2A, POTEE +1 more	Copy number loss	not provided	GUncertain significance
Select item 1808812	GRCh37/hg19 2q21.1(chr2:131889239-131993862)x3	PLEKHB2, POTEE	Copy number gain	not provided	GUncertain significance
Select item 1808259	GRCh37/hg19 2q21.1(chr2:131452093-132035609)x3	AMER3, ARHGEF4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1710918	GRCh37/hg19 2q21.1-21.2(chr2:131853044-133195255)x3	C2orf27A, CCDC74A +7 more	Copy number gain	See cases	GUncertain significance
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 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1341253	GRCh37/hg19 2q21.1(chr2:131477947-132215063)x1	AMER3, ARHGEF4 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1340706	GRCh37/hg19 2q21.1(chr2:131441707-131993678)x3	AMER3, ARHGEF4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339988	GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1	ACMSD, AMER3 +64 more	Copy number loss	not provided	GPathogenic
Select item 929341	GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1	AMER3, AMMECR1L +44 more	Copy number loss	See cases	GLikely pathogenic
Select item 814305	GRCh37/hg19 2q21.1(chr2:131477947-132280823)x1	ARHGEF4, TUBA3D +6 more	Copy number loss	not provided	GUncertain significance
Select item 689335	GRCh37/hg19 2q21.1(chr2:131391068-132046784)x3	AMER3, ARHGEF4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 688280	GRCh37/hg19 2q21.1(chr2:131477947-131997817)x3	AMER3, ARHGEF4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686960	GRCh37/hg19 2q21.1(chr2:131852846-131993862)x3	PLEKHB2, POTEE	Copy number gain	not provided	GUncertain significance
Select item 685771	GRCh37/hg19 2q21.1-21.2(chr2:130916858-134213436)x3	AMER3, IMP4 +23 more	Copy number gain	not provided	GUncertain significance
Select item 685387	GRCh37/hg19 2q21.1(chr2:131452092-132269288)x3	AMER3, ARHGEF4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 685027	GRCh37/hg19 2q21.1(chr2:131441725-132267790)x3	AMER3, ARHGEF4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 685009	GRCh37/hg19 2q21.1(chr2:131461909-131993678)x3	AMER3, ARHGEF4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 625693	GRCh37/hg19 2q21.1(chr2:131487820-132166509)	AMER3, ARHGEF4 +4 more	Copy number loss	not provided	GPathogenic
Select item 562611	GRCh37/hg19 2q21.1(chr2:131440484-132126860)x3	FAM168B, GPR148 +4 more	Copy number gain	not provided	GUncertain significance
Select item 562599	GRCh37/hg19 2q21.1(chr2:131477947-132048781)x1	FAM168B, ARHGEF4 +4 more	Copy number loss	not provided	GLikely benign
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443178	GRCh37/hg19 2q21.1-21.2(chr2:130920847-134220436)x3	AMER3, ARHGEF4 +23 more	Copy number gain	See cases	GUncertain significance
Select item 443124	GRCh37/hg19 2q21.1(chr2:131477746-131993678)x3	AMER3, ARHGEF4 +4 more	Copy number gain	See cases	GUncertain significance
Select item 443109	GRCh37/hg19 2q21.1(chr2:131440484-132063736)x3	AMER3, ARHGEF4 +4 more	Copy number gain	See cases	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 442082	GRCh37/hg19 2q21.1(chr2:131477947-132048781)x3	AMER3, ARHGEF4 +4 more	Copy number gain	See cases	GUncertain significance
Select item 441676	GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1	ACMSD, AMER3 +74 more	Copy number loss	See cases	GPathogenic
Select item 395307	GRCh37/hg19 2q21.1(chr2:131438951-131976059)x3	AMER3, ARHGEF4 +4 more	Copy number gain	See cases	GLikely benign
Select item 226134	GRCh37/hg19 2q21.1(chr2:131485402-132024166)	AMER3, GPR148 +4 more	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 155407	GRCh38/hg38 2q21.1(chr2:130720374-131388759)x3	AMER3, ARHGEF4 +16 more	Copy number gain	See cases	GLikely benign
Select item 154209	GRCh38/hg38 2q21.1(chr2:130684164-131278036)x3	AMER3, ARHGEF4 +14 more	Copy number gain	See cases	GUncertain significance
Select item 152948	GRCh38/hg38 2q21.1-21.2(chr2:131100857-132436431)x3	ANKRD30BL, CCDC74A +32 more	Copy number gain	See cases	GUncertain significance
Select item 152346	GRCh38/hg38 2q21.1(chr2:130720173-131278036)x1	AMER3, ARHGEF4 +13 more	Copy number loss	See cases	GLikely pathogenic
Select item 148546	GRCh38/hg38 2q21.1(chr2:130594216-131310557)x3	AMER3, ARHGEF4 +18 more	Copy number gain	See cases	GUncertain significance
Select item 148063	GRCh38/hg38 2q21.1(chr2:130743933-131451535)x1	AMER3, ARHGEF4 +16 more	Copy number loss	See cases	GUncertain significance
Select item 148042	GRCh38/hg38 2q21.1(chr2:130743933-131549753)x1	AMER3, ARHGEF4 +24 more	Copy number loss	See cases	GUncertain significance
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 144151	GRCh38/hg38 2q21.1(chr2:130743933-131340280)x3	AMER3, ARHGEF4 +14 more	Copy number gain	See cases	GUncertain significance
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 52