ClinVar for MedGen (Select 324539) - ClinVar

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

Links from MedGen

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 932122	NM_000262.3(NAGA):c.759+1_759+8del	NAGA	Deletion (splice donor variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GLikely pathogenic
Select item 903167	NM_000262.3(NAGA):c.12G>A (p.Lys4=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1 +1 more	GConflicting classifications of pathogenicity
Select item 902999	NM_000262.3(NAGA):c.697G>A (p.Val233Met)	NAGA (V233M)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 1 +2 more	GUncertain significance
Select item 902876	NM_000262.3(NAGA):c.*1724C>G	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 902054	NM_000262.3(NAGA):c.*572G>A	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 902053	NM_000262.3(NAGA):c.*730T>C	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 901975	NM_000262.3(NAGA):c.*1862C>A	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 1 +1 more	GUncertain significance
Select item 901974	NM_000262.3(NAGA):c.*1930G>A	NAGA, WBP2NL	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GLikely benign
Select item 901483	NM_000262.3(NAGA):c.*1103T>C	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GBenign
Select item 900504	NM_000262.3(NAGA):c.324C>T (p.Tyr108=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1 +2 more	GConflicting classifications of pathogenicity
Select item 900446	NM_000262.3(NAGA):c.*55C>T	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 1 +1 more	GUncertain significance
Select item 900386	NM_000262.3(NAGA):c.*107G>A	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
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 900327	NM_000262.3(NAGA):c.*1311T>C	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GLikely benign
Select item 900326	NM_000262.3(NAGA):c.*1484A>G	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 900325	NM_000262.3(NAGA):c.*1555C>T	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 899549	NM_000262.3(NAGA):c.-394A>G	LOC130067582, NAGA	Single nucleotide variant (5 prime UTR variant +1 more)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GLikely benign
Select item 899383	NM_000262.3(NAGA):c.486C>G (p.Pro162=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GConflicting classifications of pathogenicity
Select item 899382	NM_000262.3(NAGA):c.493C>T (p.Arg165Trp)	LOC126863160, NAGA (R165W)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 1 +2 more	GUncertain significance
Select item 899381	NM_000262.3(NAGA):c.582C>T (p.Gly194=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GConflicting classifications of pathogenicity
Select item 782072	NM_000262.3(NAGA):c.482C>T (p.Thr161Ile)	LOC126863160, NAGA (T161I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 738828	NM_000262.3(NAGA):c.618G>A (p.Ala206=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1 +1 more	GConflicting classifications of pathogenicity
Select item 719610	NM_000262.3(NAGA):c.1209C>T (p.Ile403=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1 +1 more	GConflicting classifications of pathogenicity
Select item 660319	NM_000262.3(NAGA):c.487G>A (p.Glu163Lys)	LOC126863160, NAGA (E163K)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GUncertain significance
Select item 341920	NM_000262.3(NAGA):c.-502A>C	LOC130067582, NAGA	Single nucleotide variant (5 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 1 +1 more	GUncertain significance
Select item 341919	NM_000262.3(NAGA):c.-496G>C	LOC130067582, NAGA	Single nucleotide variant (5 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 1 +1 more	GUncertain significance
Select item 341918	NM_000262.3(NAGA):c.-306C>A	LOC130067582, NAGA	Single nucleotide variant (5 prime UTR variant +1 more)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 341917	NM_000262.3(NAGA):c.-208G>C	NAGA	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 341916	NM_000262.3(NAGA):c.-43C>T	NAGA	Single nucleotide variant (5 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 341915	NM_000262.3(NAGA):c.19C>T (p.Leu7Phe)	LOC126863160, NAGA (L7F)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 341914	NM_000262.3(NAGA):c.25C>T (p.Leu9=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1 +3 more	GBenign/Likely benign
Select item 341913	NM_000262.3(NAGA):c.110G>A (p.Arg37His)	LOC126863160, NAGA (R37H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 1 +3 more	GConflicting classifications of pathogenicity
Select item 341911	NM_000262.3(NAGA):c.406G>A (p.Asp136Asn)	LOC126863160, NAGA (D136N)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +2 more	GConflicting classifications of pathogenicity
Select item 341910	NM_000262.3(NAGA):c.549C>T (p.Ile183=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1 +1 more	GConflicting classifications of pathogenicity
Select item 341909	NM_000262.3(NAGA):c.638G>A (p.Arg213His)	NAGA (R213H)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 341908	NM_000262.3(NAGA):c.760-7C>A	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GBenign
Select item 341907	NM_000262.3(NAGA):c.859C>T (p.Arg287Cys)	NAGA (R287C)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 341906	NM_000262.3(NAGA):c.957+4C>G	NAGA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 341905	NM_000262.3(NAGA):c.993G>T (p.Leu331=)	NAGA	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 341904	NM_000262.3(NAGA):c.1013T>C (p.Leu338Ser)	NAGA (L338S)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
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 341902	NM_000262.3(NAGA):c.*143C>T	NAGA	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 341901	NM_000262.3(NAGA):c.*155A>G	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
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 341899	NM_000262.3(NAGA):c.*176C>G	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 341898	NM_000262.3(NAGA):c.*268G>A	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 341897	NM_000262.3(NAGA):c.*555C>T	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GLikely benign
Select item 341896	NM_000262.3(NAGA):c.*926C>G	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 341895	NM_000262.3(NAGA):c.*1035G>A	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GBenign
Select item 341894	NM_000262.3(NAGA):c.*1090G>A	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 341893	NM_000262.3(NAGA):c.*1252T>C	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 341892	NM_000262.3(NAGA):c.*1299C>T	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 341891	NM_000262.3(NAGA):c.*1333T>C	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GBenign
Select item 341890	NM_000262.3(NAGA):c.*1501C>G	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 341889	NM_000262.3(NAGA):c.*1696C>T	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GBenign
Select item 341888	NM_000262.3(NAGA):c.1788_1789del	NAGA	Deletion (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GBenign
Select item 341887	NM_000262.3(NAGA):c.*1789del	NAGA	Deletion (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance
Select item 341886	NM_000262.3(NAGA):c.*1814C>T	NAGA	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GBenign
Select item 341885	NM_000262.3(NAGA):c.*1929C>T	NAGA, WBP2NL	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GBenign
Select item 212736	NM_000262.3(NAGA):c.606C>A (p.Tyr202Ter)	NAGA (Y202*)	Single nucleotide variant (nonsense)	Alpha-N-acetylgalactosaminidase deficiency type 1 +1 more	GLikely pathogenic
Select item 198062	NM_000262.3(NAGA):c.598-15C>T	NAGA	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 196242	NM_000262.3(NAGA):c.279G>A (p.Pro93=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 18166	NM_000262.3(NAGA):c.986G>A (p.Arg329Gln)	NAGA (R329Q)	Single nucleotide variant (missense variant)	NAGA-Related Disorders	GUncertain significance
Select item 18165	NM_000262.3(NAGA):c.479C>G (p.Ser160Cys)	LOC126863160, NAGA (S160C)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 18164	NM_000262.3(NAGA):c.577G>T (p.Glu193Ter)	LOC126863160, NAGA (E193*)	Single nucleotide variant (nonsense)	Alpha-N-acetylgalactosaminidase deficiency type 2	GPathogenic
Select item 18163	NM_000262.3(NAGA):c.985C>T (p.Arg329Trp)	NAGA (R329W)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 2	GPathogenic
Select item 18162	NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)	NAGA (E325K)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 68