ClinVar for Gene (Select 55041) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3214858	NM_001100623.2(PLEKHB2):c.83C>T (p.Ser28Leu)	PLEKHB2 (S28L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214857	NM_001100623.2(PLEKHB2):c.475G>C (p.Val159Leu)	PLEKHB2 (V110L +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214856	NM_001100623.2(PLEKHB2):c.350C>T (p.Ala117Val)	PLEKHB2 (A117V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214855	NM_001100623.2(PLEKHB2):c.212A>G (p.Lys71Arg)	PLEKHB2 (K71R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2622767	NM_001100623.2(PLEKHB2):c.15G>C (p.Lys5Asn)	PLEKHB2 (K5N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2470857	NM_001100623.2(PLEKHB2):c.53G>A (p.Arg18His)	PLEKHB2 (R18H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374983	NM_001100623.2(PLEKHB2):c.169C>T (p.Arg57Cys)	PLEKHB2 (R57C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335379	NM_001100623.2(PLEKHB2):c.538T>C (p.Tyr180His)	PLEKHB2 (Y131H +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329967	NM_001100623.2(PLEKHB2):c.200C>A (p.Pro67His)	PLEKHB2 (P67H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327625	NM_001100623.2(PLEKHB2):c.101A>G (p.Tyr34Cys)	PLEKHB2 (Y34C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319187	NM_001100623.2(PLEKHB2):c.32G>A (p.Arg11Gln)	PLEKHB2 (R11Q)	Single nucleotide variant (missense variant +2 more)	not specified	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 688601	GRCh37/hg19 2q21.1(chr2:131452092-131934102)x1	AMER3, ARHGEF4 +3 more	Copy number loss	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 686711	GRCh37/hg19 2q21.1(chr2:131461909-131967138)x1	AMER3, ARHGEF4 +3 more	Copy number loss	not provided	GUncertain significance
Select item 686172	GRCh37/hg19 2q21.1(chr2:131441707-131950529)x3	AMER3, ARHGEF4 +3 more	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 685441	GRCh37/hg19 2q21.1(chr2:131461909-131929142)x1	AMER3, ARHGEF4 +3 more	Copy number loss	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 684908	GRCh37/hg19 2q21.1(chr2:131478004-131967138)x3	AMER3, ARHGEF4 +3 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 625692	GRCh37/hg19 2q21.1(chr2:131486951-131933628)	AMER3, ARHGEF4 +3 more	Copy number loss	not provided	GLikely pathogenic
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 562589	GRCh37/hg19 2q21.1(chr2:131477947-131956516)x1	PLEKHB2, FAM168B +3 more	Copy number loss	not provided	GUncertain significance
Select item 545243	NC_000002.12:g.(?_130725519)_(131168548_?)del	AMER3, ARHGEF4 +12 more	Deletion	Schizophrenia	GLikely pathogenic
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 443891	GRCh37/hg19 2q21.1(chr2:131477947-131933576)x1	AMER3, ARHGEF4 +3 more	Copy number loss	See cases	GLikely pathogenic
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 443070	GRCh37/hg19 2q21.1(chr2:131477947-131956545)x1	AMER3, ARHGEF4 +3 more	Copy number loss	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 442906	GRCh37/hg19 2q21.1(chr2:131477947-131956516)x1	AMER3, ARHGEF4 +3 more	Copy number loss	See cases	GLikely pathogenic
Select item 442575	GRCh37/hg19 2q21.1(chr2:131477947-131975365)x1	AMER3, ARHGEF4 +3 more	Copy number loss	See cases	GLikely pathogenic
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 441546	GRCh37/hg19 2q21.1(chr2:131477947-131950529)x1	AMER3, ARHGEF4 +3 more	Copy number loss	See cases	GLikely pathogenic
Select item 395307	GRCh37/hg19 2q21.1(chr2:131438951-131976059)x3	AMER3, ARHGEF4 +4 more	Copy number gain	See cases	GLikely benign
Select item 393802	GRCh37/hg19 2q21.1(chr2:131858430-131907307)x3	PLEKHB2	Copy number gain	See cases	GBenign
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 149080	GRCh38/hg38 2q21.1(chr2:130720159-131196705)x1	AMER3, ARHGEF4 +12 more	Copy number loss	See cases	Gconflicting data from submitters
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

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 71