ADAT2[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997469, LOC129997470 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC132089359, LOC132089360 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	ACAT2, ADAT2 +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)	Inborn genetic diseases	GUncertain significance
Select item 2248559	NM_182503.3(ADAT2):c.548T>G (p.Val183Gly)	ADAT2 (V136G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305897	NM_182503.3(ADAT2):c.463A>G (p.Ile155Val)	ADAT2 (I108V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265904	NM_182503.3(ADAT2):c.235C>G (p.Gln79Glu)	ADAT2 (Q32E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355563	NM_182503.3(ADAT2):c.232G>A (p.Asp78Asn)	ADAT2 (D78N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393283	NM_182503.3(ADAT2):c.222G>C (p.Met74Ile)	ADAT2 (M74I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +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

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Items: 23