VGLL2[gene] - ClinVar

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

Search results

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 146318	GRCh38/hg38 6q22.1-22.2(chr6:115326962-117935240)x1	CALHM4, CALHM5 +91 more	Copy number loss	See cases	GLikely pathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 151218	GRCh38/hg38 6q22.1-22.31(chr6:116815199-119718887)x1	ASF1A, CEP85L +68 more	Copy number loss	See cases	GLikely pathogenic
Select item 59527	GRCh38/hg38 6q22.1(chr6:117206991-117881842)x3	DCBLD1, GOPC +24 more	Copy number gain	See cases	GUncertain significance
Select item 2211859	NM_182645.3(VGLL2):c.85C>G (p.Leu29Val)	VGLL2 (L29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770557	NM_182645.3(VGLL2):c.99C>A (p.Ser33=)	VGLL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2516323	NM_182645.3(VGLL2):c.151G>A (p.Gly51Ser)	VGLL2 (G51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188495	NM_182645.3(VGLL2):c.250C>T (p.Arg84Cys)	VGLL2 (R84C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188496	NM_182645.3(VGLL2):c.292G>C (p.Val98Leu)	VGLL2 (V98L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188497	NM_182645.3(VGLL2):c.301G>A (p.Glu101Lys)	VGLL2 (E101K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332024	NM_182645.3(VGLL2):c.357C>A (p.Ser119Arg)	VGLL2 (S119R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779915	NM_182645.3(VGLL2):c.382C>G (p.Pro128Ala)	VGLL2 (P128A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3188498	NM_182645.3(VGLL2):c.421T>G (p.Phe141Val)	VGLL2 (F141V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 731356	NM_182645.3(VGLL2):c.467C>A (p.Pro156Gln)	VGLL2 (P156Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3188499	NM_182645.3(VGLL2):c.509C>T (p.Pro170Leu)	VGLL2 (P170L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384481	NM_182645.3(VGLL2):c.551G>A (p.Gly184Asp)	VGLL2 (G184D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457788	NM_182645.3(VGLL2):c.594C>G (p.His198Gln)	VGLL2 (H198Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332022	NM_182645.3(VGLL2):c.608A>G (p.His203Arg)	VGLL2 (H203R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332021	NM_182645.3(VGLL2):c.609C>G (p.His203Gln)	VGLL2 (H203Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288607	NM_182645.3(VGLL2):c.647C>G (p.Ala216Gly)	VGLL2 (A216G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188500	NM_182645.3(VGLL2):c.694G>C (p.Ala232Pro)	VGLL2 (A232P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332023	NM_182645.3(VGLL2):c.698C>G (p.Pro233Arg)	VGLL2 (P233R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188501	NM_182645.3(VGLL2):c.739G>A (p.Ala247Thr)	VGLL2 (A247T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188502	NM_182645.3(VGLL2):c.757C>G (p.Arg253Gly)	VGLL2 (R253G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188503	NM_182645.3(VGLL2):c.769G>T (p.Ala257Ser)	VGLL2 (A257S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410300	NM_182645.3(VGLL2):c.817G>A (p.Gly273Ser)	VGLL2 (G273S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188504	NM_182645.3(VGLL2):c.866G>T (p.Ser289Ile)	VGLL2 (S289I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355525	NM_182645.3(VGLL2):c.872C>T (p.Ser291Leu)	VGLL2 (S291L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188505	NM_182645.3(VGLL2):c.887A>G (p.Gln296Arg)	VGLL2 (Q296R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	GPathogenic
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 2574685	GRCh37/hg19 6q21-22.31(chr6:112713854-124105184)	ASF1A, CALHM4 +39 more	Copy number loss	6q terminal deletion syndrome	GLikely pathogenic
Select item 2427242	NC_000006.11:g.(?_116441236)_(119252888_?)del	TRAPPC3L, TSPYL4 +24 more	Deletion	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 1527278	GRCh37/hg19 6q22.1-22.31(chr6:116212698-119482708)	DCBLD1, DSE +26 more	Copy number loss	not specified	GPathogenic
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	AFG1L, AK9 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 1341103	GRCh37/hg19 6q22.1-22.31(chr6:117441803-123349672)x3	ASF1A, CEP85L +18 more	Copy number gain	not provided	GLikely pathogenic
Select item 980222	GRCh37/hg19 6q22.1(chr6:117190128-117881578)x3	GOPC, VGLL2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 978186	NC_000006.11:g.116734559_123648104del	ASF1A, CALHM4 +31 more	Deletion	Seizure +1 more	GPathogenic
Select item 688010	GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1	AMD1, ASF1A +45 more	Copy number loss	not provided	GPathogenic
Select item 563225	GRCh37/hg19 6q22.1(chr6:117572602-117619588)x1	VGLL2, ROS1	Copy number loss	not provided	GUncertain significance
Select item 563222	GRCh37/hg19 6q21-22.1(chr6:113261042-117842826)x1	CALHM4, CALHM5 +21 more	Copy number loss	not provided	GPathogenic
Select item 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 217142	GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1	NT5DC1, TRAPPC3L +36 more	Copy number loss	6q21-6q22.1 deletion	GLikely pathogenic
Select item 180227	NC_000006.11:g.(116681080_116735056)_(119687719_119775014)del	ASF1A, CALHM4 +22 more	Deletion	Tremor +3 more	GPathogenic
Select item 180224	NC_000006.11:g.(112511751_112511752)_(118037595_118037596)del	KPNA5, LAMA4 +25 more	Deletion	Delayed speech and language development +2 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 55