C1851741[trait identifier] AND "Mendelics"[submitter] - ClinVar

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

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 544821	NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp)	SPTA1 (R2141W)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +3 more	GUncertain significance
Select item 1030630	NM_003126.4(SPTA1):c.4339-99C>T	SPTA1	Single nucleotide variant (intron variant)	not provided +5 more	GPathogenic
Select item 12846	NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp)	SPTA1 (A970D)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign

Format

Sort by

Choose Destination