"PreventionGenetics, part of Exact Sciences"[submitter] AND "GLA"[gene - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3048977	NM_021029.6(RPL36A):c.3+121A>G	GLA, RPL36A +1 more	Single nucleotide variant (intron variant)	GLA-related disorder	GLikely benign
Select item 3040732	NM_021029.6(RPL36A):c.3+149C>T	GLA, RPL36A +1 more	Single nucleotide variant (intron variant)	GLA-related disorder	GLikely benign
Select item 3031516	NM_021029.6(RPL36A):c.3+170G>A	GLA, RPL36A +1 more	Single nucleotide variant (intron variant)	GLA-related disorder	GLikely benign
Select item 3050211	NM_021029.6(RPL36A):c.4-194G>A	GLA, RPL36A +1 more	Single nucleotide variant (intron variant)	GLA-related disorder	GLikely benign
Select item 3030728	NM_001199973.2(RPL36A-HNRNPH2):c.300+2257T>C	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	GLA-related disorder	GLikely benign
Select item 3048387	NM_001199973.2(RPL36A-HNRNPH2):c.300+2296A>C	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	GLA-related disorder	GLikely benign
Select item 222160	NM_000169.3(GLA):c.1207T>C (p.Leu403=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	GLA-related disorder +3 more	GLikely benign
Select item 2635243	NM_000169.3(GLA):c.1095T>G (p.Tyr365Ter)	GLA, RPL36A-HNRNPH2 (Y365* +1 more)	Single nucleotide variant (nonsense +2 more)	GLA-related disorder	GPathogenic
Select item 222143	NM_000169.3(GLA):c.1095T>C (p.Tyr365=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease +1 more	GLikely benign
Select item 10713	NM_000169.3(GLA):c.1066C>T (p.Arg356Trp)	GLA, RPL36A-HNRNPH2 (R356W)	Single nucleotide variant (missense variant +2 more)	GLA-related disorder +2 more	GPathogenic
Select item 10743	NM_000169.3(GLA):c.1024C>T (p.Arg342Ter)	GLA, RPL36A-HNRNPH2 (R342*)	Single nucleotide variant (nonsense +2 more)	not provided +2 more	GPathogenic
Select item 222112	NM_000169.3(GLA):c.1000-22C>T	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease +2 more	GBenign
Select item 3061400	NM_000169.3(GLA):c.994del (p.Arg332fs)	GLA, RPL36A-HNRNPH2 (R332fs)	Deletion (frameshift variant +2 more)	GLA-related disorder	GLikely pathogenic
Select item 42466	NM_000169.3(GLA):c.978G>A (p.Lys326=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 42465	NM_000169.3(GLA):c.945C>T (p.Asp315=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 10738	NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)	GLA, RPL36A-HNRNPH2 (D313Y)	Single nucleotide variant (missense variant +2 more)	not provided +6 more	GConflicting classifications of pathogenicity; other
Select item 2634390	NM_000169.3(GLA):c.816C>A (p.Asn272Lys)	GLA, RPL36A-HNRNPH2 (N272K +1 more)	Single nucleotide variant (missense variant +2 more)	GLA-related disorder	GPathogenic
Select item 918787	NM_000169.3(GLA):c.802-6T>G	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease +1 more	GLikely benign
Select item 3053116	NM_000169.3(GLA):c.802-102G>C	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	GLA-related disorder	GLikely benign
Select item 1685852	NM_000169.3(GLA):c.782del (p.Gly261fs)	GLA, RPL36A-HNRNPH2 (G261fs)	Deletion (frameshift variant +2 more)	Fabry disease +1 more	GPathogenic/Likely pathogenic
Select item 222380	NM_000169.3(GLA):c.755G>C (p.Arg252Thr)	GLA, RPL36A-HNRNPH2 (R252T)	Single nucleotide variant (missense variant +2 more)	GLA-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 42460	NM_000169.3(GLA):c.714T>C (p.Ser238=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 92559	NM_000169.3(GLA):c.640-16A>G	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease +2 more	GBenign
Select item 1284295	NM_000169.3(GLA):c.639+18G>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	GLA-related disorder +2 more	GBenign/Likely benign
Select item 92558	NM_000169.3(GLA):c.639+4A>T	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 167141	NM_000169.3(GLA):c.619T>C (p.Tyr207His)	RPL36A-HNRNPH2, GLA	Single nucleotide variant (missense variant +2 more)	GLA-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3030508	NM_000169.3(GLA):c.547+27C>T	GLA, RPL36A-HNRNPH2 (H233Y)	Single nucleotide variant (missense variant +1 more)	RPL36A-HNRNPH2-related disorder	GLikely benign
Select item 2631565	NM_000169.3(GLA):c.547+4A>C	GLA, RPL36A-HNRNPH2 (N225T)	Single nucleotide variant (missense variant +1 more)	GLA-related disorder	GUncertain significance
Select item 573833	NM_000169.3(GLA):c.525C>G (p.Asp175Glu)	GLA, RPL36A-HNRNPH2 (D175E)	Single nucleotide variant (missense variant +2 more)	Fabry disease +3 more	GConflicting classifications of pathogenicity
Select item 222204	NM_000169.3(GLA):c.272T>C (p.Ile91Thr)	GLA, RPL36A-HNRNPH2 (I91T)	Single nucleotide variant (missense variant +2 more)	GLA-related disorder +2 more	GPathogenic
Select item 193058	NM_000169.3(GLA):c.194+17A>G	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease +2 more	GBenign
Select item 222174	NM_000169.3(GLA):c.124A>G (p.Met42Val)	GLA, RPL36A-HNRNPH2 (M42V)	Single nucleotide variant (missense variant +2 more)	GLA-related disorder +2 more	GPathogenic
Select item 2633232	NM_000169.3(GLA):c.52T>C (p.Phe18Leu)	GLA, RPL36A-HNRNPH2 (F18L)	Single nucleotide variant (missense variant +2 more)	GLA-related disorder	GUncertain significance
Select item 42455	NM_000169.3(GLA):c.48T>G (p.Leu16=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 1062738	NM_000169.3(GLA):c.17C>G (p.Pro6Arg)	GLA, RPL36A-HNRNPH2 (P6R)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 163550	NM_000169.3(GLA):c.-8C>G	GLA, RPL36A-HNRNPH2	Single nucleotide variant (5 prime UTR variant +2 more)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 3035095	NM_000169.3(GLA):c.-9A>C	GLA, RPL36A-HNRNPH2	Single nucleotide variant (5 prime UTR variant +2 more)	GLA-related disorder	GLikely benign
Select item 36280	NM_000169.3(GLA):c.-10C>T	GLA, RPL36A-HNRNPH2	Single nucleotide variant (5 prime UTR variant +2 more)	Fabry disease +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)	Fabry disease +3 more	GBenign/Likely benign

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Items: 39