ClinVar for MedGen (Select 856014) - ClinVar - NCBI

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

Links from MedGen

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235129	NM_001080449.3(DNA2):c.1963A>G (p.Thr655Ala)	DNA2 (T655A)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 8	GPathogenic
Select item 3235127	NM_001080449.3:c.1764-38_1764-37insGAACCTCAAACAGCCAGGAGCAGCTGGAATGCAGGCCTTTCACTCCACTTTTC	DNA2	Insertion	Seckel syndrome 8	GPathogenic
Select item 2907397	NM_001080449.3(DNA2):c.74+4A>C	DNA2	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1333688	NM_001080449.3(DNA2):c.916A>T (p.Asn306Tyr)	DNA2 (N306Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1033659	NM_001080449.3(DNA2):c.2156G>T (p.Arg719Ile)	DNA2 (R719I)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 8	GUncertain significance
Select item 1031788	NM_001080449.3(DNA2):c.707T>C (p.Met236Thr)	DNA2 (M236T)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 8	GUncertain significance
Select item 559218	NM_001080449.3(DNA2):c.720-4del	DNA2	Deletion (intron variant)	Seckel syndrome 8 +2 more	GBenign/Likely benign
Select item 516414	NM_001080449.3(DNA2):c.1057+19del	DNA2	Deletion (intron variant)	not provided +2 more	GBenign
Select item 429200	NM_001080449.3(DNA2):c.2697+13del	DNA2	Deletion (intron variant)	Mitochondrial DNA deletion syndrome with progressive myopathy +2 more	GBenign
Select item 385006	NM_001080449.3(DNA2):c.1649A>G (p.Asn550Ser)	DNA2 (N550S)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 8 +2 more	GBenign/Likely benign
Select item 382984	NM_001080449.3(DNA2):c.295T>C (p.Leu99=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 381847	NM_001080449.3(DNA2):c.888G>A (p.Pro296=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 257346	NM_001080449.3(DNA2):c.507C>A (p.Ala169=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 257343	NM_001080449.3(DNA2):c.2430C>G (p.Phe810Leu)	DNA2 (F810L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA deletion syndrome with progressive myopathy +3 more	GBenign/Likely benign
Select item 143932	NM_001080449.3(DNA2):c.3114+6del	DNA2	Deletion (intron variant)	Seckel syndrome 8 +1 more	GPathogenic/Likely pathogenic