ClinVar for Gene (Select 51534) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3332384	NM_016485.5(VTA1):c.541G>A (p.Ala181Thr)	VTA1 (A123T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189196	NM_016485.5(VTA1):c.787C>T (p.Arg263Cys)	VTA1 (R263C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189195	NM_016485.5(VTA1):c.754G>A (p.Ala252Thr)	VTA1 (A252T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189194	NM_016485.5(VTA1):c.716T>C (p.Ile239Thr)	VTA1 (I239T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189193	NM_016485.5(VTA1):c.364A>C (p.Ser122Arg)	VTA1 (S122R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064210	NM_016485.5(VTA1):c.52C>T (p.Gln18Ter)	VTA1 (Q18*)	Single nucleotide variant (nonsense +1 more)	not specified	GLikely pathogenic
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2614340	NM_016485.5(VTA1):c.13G>A (p.Ala5Thr)	VTA1 (A5T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552853	NM_016485.5(VTA1):c.560C>G (p.Pro187Arg)	VTA1 (P187R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551960	NM_016485.5(VTA1):c.218A>G (p.Gln73Arg)	VTA1 (Q15R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490830	NM_016485.5(VTA1):c.754G>T (p.Ala252Ser)	VTA1 (A252S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490432	NM_016485.5(VTA1):c.382A>G (p.Ile128Val)	VTA1 (I70V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408997	NM_016485.5(VTA1):c.458A>G (p.His153Arg)	VTA1 (H95R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366515	NM_016485.5(VTA1):c.169C>T (p.Arg57Cys)	VTA1 (R57C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365850	NM_016485.5(VTA1):c.317G>A (p.Arg106His)	VTA1 (R48H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327890	NM_016485.5(VTA1):c.800A>T (p.Glu267Val)	VTA1 (E182V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291850	NM_016485.5(VTA1):c.908C>T (p.Thr303Met)	VTA1 (T276M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258390	NM_016485.5(VTA1):c.170G>A (p.Arg57His)	VTA1 (R57H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255183	NM_016485.5(VTA1):c.160C>T (p.Pro54Ser)	VTA1 (P54S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245758	NM_016485.5(VTA1):c.149A>G (p.Asp50Gly)	VTA1 (D50G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807585	GRCh37/hg19 6q24.1(chr6:142246948-142757320)x3	ADGRG6, NMBR +1 more	Copy number gain	not provided	GUncertain significance
Select item 1684644	Single allele	ABRACL, AHI1 +260 more	Deletion	Autoinflammatory syndrome, familial, Behcet-like	GPathogenic
Select item 1527298	GRCh37/hg19 6q24.1-24.2(chr6:140486733-143341271)	ADGRG6, HIVEP2 +2 more	Copy number loss	not specified	GLikely pathogenic
Select item 980793	GRCh37/hg19 6q24.1(chr6:142410111-142475616)x1	VTA1	Copy number loss	not provided	GUncertain significance
Select item 980792	GRCh37/hg19 6q24.1(chr6:142483642-142786697)x3	ADGRG6, VTA1	Copy number gain	not provided	GUncertain significance
Select item 625705	GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510)	ABRACL, ADAT2 +49 more	Copy number loss	not provided	GPathogenic
Select item 563239	GRCh37/hg19 6q24.1(chr6:142540767-142619703)x1	VTA1	Copy number loss	not provided	GLikely benign
Select item 563238	GRCh37/hg19 6q24.1(chr6:142410111-142547236)x1	VTA1	Copy number loss	not provided	GUncertain significance
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 442470	GRCh37/hg19 6q24.1-25.1(chr6:139513020-150389231)x1	ADAT2, ADGB +42 more	Copy number loss	See cases	GPathogenic
Select item 441897	GRCh37/hg19 6q23.2-24.2(chr6:133077239-143761582)x1	ABRACL, ADAT2 +41 more	Copy number loss	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 36