NAB2[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic
Select item 59020	GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	AGAP2, AGAP2-AS1 +162 more	Copy number loss	See cases	GPathogenic
Select item 2549627	NM_005967.4(NAB2):c.95G>A (p.Arg32Gln)	NAB2 (R32Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2643108	NM_005967.4(NAB2):c.204C>T (p.Asp68=)	NAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2326081	NM_005967.4(NAB2):c.313G>C (p.Glu105Gln)	NAB2 (E105Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246815	NM_005967.4(NAB2):c.445G>C (p.Gly149Arg)	NAB2 (G149R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270331	NM_005967.4(NAB2):c.461G>A (p.Ser154Asn)	NAB2 (S154N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334139	NM_005967.4(NAB2):c.470G>C (p.Ser157Thr)	NAB2 (S157T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480915	NM_005967.4(NAB2):c.590C>T (p.Ala197Val)	NAB2 (A197V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365720	NM_005967.4(NAB2):c.620C>T (p.Pro207Leu)	NAB2 (P207L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 779440	NM_005967.4(NAB2):c.631C>T (p.Pro211Ser)	NAB2 (P211S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2597561	NM_005967.4(NAB2):c.677C>G (p.Ala226Gly)	NAB2 (A226G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601553	NM_005967.4(NAB2):c.728G>A (p.Arg243His)	NAB2 (R243H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245188	NM_005967.4(NAB2):c.1088C>A (p.Ser363Tyr)	NAB2 (S363Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309977	NM_005967.4(NAB2):c.1268A>C (p.His423Pro)	NAB2 (H423P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489537	NM_005967.4(NAB2):c.1394G>A (p.Arg465Gln)	NAB2 (R465Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531590	NM_005967.4(NAB2):c.1451C>T (p.Ala484Val)	NAB2 (A484V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375159	NM_005967.4(NAB2):c.1546G>A (p.Val516Met)	NAB2 (V452M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498574	GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1	AGAP2, ARHGAP9 +45 more	Copy number loss	not provided	GLikely pathogenic
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 24