"PreventionGenetics, part of Exact Sciences"[submitter] AND "PHF21A"[g - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1595935	NM_001352027.3(PHF21A):c.2015C>T (p.Ala672Val)	PHF21A (A624V +3 more)	Single nucleotide variant (missense variant +1 more)	PHF21A-related disorder +1 more	GLikely benign
Select item 719351	NM_001352027.3(PHF21A):c.1980G>A (p.Thr660=)	PHF21A	Single nucleotide variant (synonymous variant +1 more)	PHF21A-related disorder +1 more	GLikely benign
Select item 1618357	NM_001352027.3(PHF21A):c.1937A>G (p.Asn646Ser)	PHF21A (N598S +3 more)	Single nucleotide variant (missense variant +1 more)	PHF21A-related disorder +1 more	GBenign
Select item 2979156	NM_001352027.3(PHF21A):c.1872C>T (p.Arg624=)	PHF21A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 780143	NM_001352027.3(PHF21A):c.1813A>G (p.Ile605Val)	PHF21A (I605V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely benign
Select item 3042619	NM_001352027.3(PHF21A):c.1685-4_1685-3dup	PHF21A	Duplication (intron variant)	PHF21A-related disorder	GLikely benign
Select item 3041678	NM_001352027.3(PHF21A):c.1685-7_1685-3del	PHF21A	Deletion (intron variant)	PHF21A-related disorder	GBenign
Select item 2703475	NM_001352027.3(PHF21A):c.1685-16_1685-3del	PHF21A	Deletion (intron variant)	not provided +1 more	GLikely benign
Select item 787908	NM_001352027.3(PHF21A):c.1685-8_1685-3del	PHF21A	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2910760	NM_001352027.3(PHF21A):c.1095+9A>G	PHF21A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 3030191	NM_001352027.3(PHF21A):c.788G>C (p.Arg263Thr)	PHF21A (R262T +1 more)	Single nucleotide variant (missense variant +1 more)	PHF21A-related disorder	GUncertain significance
Select item 781677	NM_001352027.3(PHF21A):c.771T>A (p.Ala257=)	PHF21A	Single nucleotide variant (synonymous variant +1 more)	PHF21A-related disorder +1 more	GBenign
Select item 2628455	NM_001352027.3(PHF21A):c.592G>A (p.Ala198Thr)	PHF21A (A197T +1 more)	Single nucleotide variant (missense variant +1 more)	PHF21A-related disorder	GUncertain significance
Select item 780967	NM_001352027.3(PHF21A):c.360+3A>G	PHF21A	Single nucleotide variant (intron variant)	PHF21A-related disorder +1 more	GBenign
Select item 2127715	NM_001352027.3(PHF21A):c.262C>T (p.Gln88Ter)	PHF21A (Q88*)	Single nucleotide variant (nonsense +1 more)	PHF21A-related disorder +1 more	GPathogenic/Likely pathogenic