ADAT2[gene] - ClinVar

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

Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	FBXO5, FNDC1 +865 more	Copy number gain	See cases	GPathogenic
Select item 2374281	NM_182503.3(ADAT2):c.550C>T (p.Arg184Trp)	ADAT2 (R137W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248559	NM_182503.3(ADAT2):c.548T>G (p.Val183Gly)	ADAT2 (V136G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305897	NM_182503.3(ADAT2):c.463A>G (p.Ile155Val)	ADAT2 (I108V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265904	NM_182503.3(ADAT2):c.235C>G (p.Gln79Glu)	ADAT2 (Q32E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355563	NM_182503.3(ADAT2):c.232G>A (p.Asp78Asn)	ADAT2 (D78N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393283	NM_182503.3(ADAT2):c.222G>C (p.Met74Ile)	ADAT2 (M74I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1339842	NM_182503.3(ADAT2):c.191A>G (p.Gln64Arg)	ADAT2 (Q17R +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2592421	NM_182503.3(ADAT2):c.72G>C (p.Lys24Asn)	ADAT2 (K24N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080591	NM_182503.3(ADAT2):c.70A>G (p.Lys24Glu)	ADAT2 (K24E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2424710	NC_000006.11:g.(?_142623467)_(144508628_?)del	ADAT2, ADGRG6 +11 more	Deletion	not provided	GPathogenic
Select item 1808164	GRCh37/hg19 6q24.2(chr6:143645794-143860372)x3	ADAT2, AIG1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1527299	GRCh37/hg19 6q24.2-24.3(chr6:143331663-145817051)	ADAT2, AIG1 +10 more	Copy number gain	not specified	GPathogenic
Select item 1056147	NC_000006.11:g.(?_143771700)_(144086935_?)dup	ADAT2, FUCA2 +2 more	Duplication	not provided	GUncertain significance
Select item 832557	NC_000006.12:g.(?_143333282)_(143511634_?)dup	ADAT2, AIG1 +2 more	Duplication	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 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +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

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: 24