"POP1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1519057	NM_001145860.2(POP1):c.74G>A (p.Gly25Asp)	POP1 (G25D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3050944	NM_001145860.2(POP1):c.228C>T (p.Ser76=)	POP1	Single nucleotide variant (synonymous variant)	POP1-related disorder	GLikely benign
Select item 2731772	NM_001145860.2(POP1):c.927G>T (p.Thr309=)	POP1	Single nucleotide variant (synonymous variant)	POP1-related disorder +1 more	GLikely benign
Select item 778945	NM_001145860.2(POP1):c.1128T>A (p.Pro376=)	POP1	Single nucleotide variant (synonymous variant)	POP1-related disorder +1 more	GBenign
Select item 788700	NM_001145860.2(POP1):c.1379A>C (p.Glu460Ala)	POP1 (E460A)	Single nucleotide variant (missense variant)	POP1-related disorder +1 more	GBenign
Select item 1263632	NM_001145860.2(POP1):c.1566A>C (p.Lys522Asn)	POP1 (K522N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1225530	NM_001145860.2(POP1):c.1594+10C>T	POP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1268027	NM_001145860.2(POP1):c.2163T>C (p.Ala721=)	POP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2634959	NM_001145860.2(POP1):c.2332C>T (p.Gln778Ter)	POP1 (Q778*)	Single nucleotide variant (nonsense)	POP1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1601048	NM_001145860.2(POP1):c.2980C>G (p.Leu994Val)	POP1 (L994V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign