"GeneDx"[submitter] AND "NAGA"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 900385	NM_000262.3(NAGA):c.*170G>A	NAGA	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 341900	NM_000262.3(NAGA):c.*161T>C	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +2 more	GBenign/Likely benign
Select item 341902	NM_000262.3(NAGA):c.*143C>T	NAGA	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 341903	NM_000262.3(NAGA):c.*12A>C	NAGA	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 1226704	NM_000262.3(NAGA):c.1102-44C>A	NAGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706861	NM_000262.3(NAGA):c.1102-55_1102-54dup	NAGA	Duplication (intron variant)	not provided	GLikely benign
Select item 1286567	NM_000262.3(NAGA):c.1102-61dup	NAGA	Duplication (intron variant)	not provided	GBenign
Select item 1248849	NM_000262.3(NAGA):c.1102-56G>C	NAGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242193	NM_000262.3(NAGA):c.1101+238C>G	NAGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206955	NM_000262.3(NAGA):c.1101+144C>G	NAGA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221971	NM_000262.3(NAGA):c.1101+54G>C	NAGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 18162	NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)	NAGA (E325K)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency +6 more	GConflicting classifications of pathogenicity
Select item 1237723	NM_000262.3(NAGA):c.957+268C>G	NAGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231442	NM_000262.3(NAGA):c.957+146T>C	NAGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 341906	NM_000262.3(NAGA):c.957+4C>G	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1 +2 more	GBenign
Select item 1303646	NM_000262.3(NAGA):c.760C>A (p.Leu254Met)	NAGA (L254M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1259852	NM_000262.3(NAGA):c.760-79G>A	NAGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264160	NM_000262.3(NAGA):c.759+306C>G	NAGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292024	NM_000262.3(NAGA):c.759+293A>G	NAGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 198062	NM_000262.3(NAGA):c.598-15C>T	NAGA	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1226119	NM_000262.3(NAGA):c.598-277G>A	LOC126863160, NAGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300477	NM_000262.3(NAGA):c.502+46G>A	LOC126863160, NAGA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 18165	NM_000262.3(NAGA):c.479C>G (p.Ser160Cys)	LOC126863160, NAGA (S160C)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency +4 more	GConflicting classifications of pathogenicity
Select item 682645	NM_000262.3(NAGA):c.325-72G>A	LOC126863160, NAGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278476	NM_000262.3(NAGA):c.325-193A>C	LOC126863160, NAGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707398	NM_000262.3(NAGA):c.324+118A>G	LOC126863160, NAGA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682644	NM_000262.3(NAGA):c.324+80A>G	LOC126863160, NAGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 341912	NM_000262.3(NAGA):c.280G>A (p.Asp94Asn)	LOC126863160, NAGA (D94N)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +2 more	GConflicting classifications of pathogenicity
Select item 196242	NM_000262.3(NAGA):c.279G>A (p.Pro93=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1 +3 more	GBenign
Select item 429497	NM_000262.3(NAGA):c.103C>T (p.Arg35Cys)	LOC126863160, NAGA (R35C)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 1 +1 more	GUncertain significance
Select item 1218426	NM_000262.3(NAGA):c.17-67G>A	LOC126863160, NAGA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 341917	NM_000262.3(NAGA):c.-208G>C	NAGA	Single nucleotide variant (5 prime UTR variant +1 more)	Alpha-N-acetylgalactosaminidase deficiency type 1 +2 more	GBenign
Select item 684292	NM_000262.2(NAGA):c.-604G>A	NAGA	Single nucleotide variant	not provided	GBenign
Select item 682643	NM_000262.2(NAGA):c.-649G>A	NAGA	Single nucleotide variant	not provided	GBenign
Select item 682642	NM_000262.2(NAGA):c.-679T>A	NAGA	Single nucleotide variant	not provided	GBenign
Select item 253756	GRCh37/hg19 22q13.2(chr22:42207144-42776457)x1	SMDT1, NDUFA6 +13 more	Copy number loss	See cases	GUncertain significance
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 39