"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 42452	NM_000169.3(GLA):c.1153A>G (p.Thr385Ala)	GLA, RPL36A-HNRNPH2 (T385A)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 222112	NM_000169.3(GLA):c.1000-22C>T	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 42466	NM_000169.3(GLA):c.978G>A (p.Lys326=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 1284447	NM_000169.3(GLA):c.956T>C (p.Ile319Thr)	GLA, RPL36A-HNRNPH2 (I319T)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic/Likely pathogenic
Select item 42465	NM_000169.3(GLA):c.945C>T (p.Asp315=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	GLA-related condition +4 more	GConflicting classifications of pathogenicity
Select item 92559	NM_000169.3(GLA):c.640-16A>G	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 222253	NM_000169.3(GLA):c.416A>G (p.Asn139Ser)	GLA, RPL36A-HNRNPH2 (N139S)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GLikely benign
Select item 222202	NM_000169.3(GLA):c.247G>A (p.Asp83Asn)	GLA, RPL36A-HNRNPH2 (D83N)	Single nucleotide variant (missense variant +2 more)	Fabry disease +2 more	GConflicting classifications of pathogenicity
Select item 193058	NM_000169.3(GLA):c.194+17A>G	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 42453	NM_000169.3(GLA):c.129C>T (p.Gly43=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 222170	NM_000169.3(GLA):c.123C>T (p.Thr41=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease +4 more	GConflicting classifications of pathogenicity
Select item 42455	NM_000169.3(GLA):c.48T>G (p.Leu16=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	GLA-related condition +5 more	GConflicting classifications of pathogenicity
Select item 36280	NM_000169.3(GLA):c.-10C>T	GLA, RPL36A-HNRNPH2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +4 more	GBenign/Likely benign
Select item 42449	NM_000169.3(GLA):c.-12G>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 218430	NM_000169.2(GLA):c.-30G>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease +1 more	GBenign/Likely benign