"PREPL-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3030251	NM_001171613.2(PREPL):c.1827+4T>C	PREPL, SLC3A1	Single nucleotide variant (intron variant)	PREPL-related condition	GLikely benign
Select item 3029152	NM_001171613.2(PREPL):c.1480-5T>C	PREPL	Single nucleotide variant (intron variant)	PREPL-related condition	GLikely benign
Select item 544541	NM_001171613.2(PREPL):c.1479+8C>T	PREPL	Single nucleotide variant (intron variant)	PREPL-related condition +2 more	GBenign/Likely benign
Select item 1092034	NM_001171613.2(PREPL):c.1467G>A (p.Ala489=)	PREPL	Single nucleotide variant (synonymous variant)	PREPL-related condition +1 more	GLikely benign
Select item 1590348	NM_001171613.2(PREPL):c.1455G>A (p.Glu485=)	PREPL	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 702252	NM_001171613.2(PREPL):c.1155C>G (p.Leu385=)	PREPL	Single nucleotide variant (synonymous variant)	Myasthenic syndrome, congenital, 22 +2 more	GLikely benign
Select item 704492	NM_001171613.2(PREPL):c.1135G>C (p.Asp379His)	PREPL (D379H +3 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22 +1 more	GLikely benign
Select item 1114768	NM_001171613.2(PREPL):c.1086+8T>G	PREPL	Single nucleotide variant (intron variant)	PREPL-related condition +1 more	GLikely benign
Select item 520751	NM_001171613.2(PREPL):c.968T>G (p.Ile323Arg)	PREPL (I412R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3043363	NM_001171613.2(PREPL):c.879G>T (p.Arg293=)	PREPL	Single nucleotide variant (synonymous variant +1 more)	PREPL-related condition	GLikely benign
Select item 767552	NM_001171613.2(PREPL):c.750A>G (p.Leu250=)	PREPL	Single nucleotide variant (synonymous variant +1 more)	PREPL-related condition +1 more	GLikely benign
Select item 1079955	NM_001171613.2(PREPL):c.703-4G>A	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22 +1 more	GLikely benign
Select item 2635506	NM_001171613.2(PREPL):c.539_540dup (p.Met181fs)	PREPL (M270fs +1 more)	Duplication (frameshift variant)	PREPL-related condition	GLikely pathogenic
Select item 733103	NM_001171613.2(PREPL):c.249C>G (p.Ala83=)	PREPL	Single nucleotide variant (synonymous variant)	Myasthenic syndrome, congenital, 22 +1 more	GBenign/Likely benign
Select item 583046	NM_001171613.2(PREPL):c.167del (p.Leu56fs)	PREPL (L145fs +1 more)	Deletion (frameshift variant)	PREPL-related condition +1 more	GPathogenic/Likely pathogenic
Select item 544540	NM_001171613.2(PREPL):c.149A>G (p.Asn50Ser)	PREPL (N139S +1 more)	Single nucleotide variant (missense variant)	PREPL-related condition +1 more	GBenign
Select item 478315	NM_001171613.2(PREPL):c.40C>T (p.Gln14Ter)	PREPL (Q103* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3061684	NM_001171613.2(PREPL):c.-49+1660A>G	PREPL	Single nucleotide variant (5 prime UTR variant +1 more)	PREPL-related condition	GLikely benign