"Ambry Genetics"[submitter] AND "LOC129931442"[gene] - ClinVar - NCBI

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

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1059758	NM_001330723.2(SNX27):c.15C>G (p.Asp5Glu)	LOC129931442, SNX27 (D5E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1928993	NM_001330723.2(SNX27):c.16G>C (p.Gly6Arg)	LOC129931442, SNX27 (G6R)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy +1 more	GUncertain significance
Select item 1026063	NM_001330723.2(SNX27):c.17G>T (p.Gly6Val)	LOC129931442, SNX27 (G6V)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy +2 more	GUncertain significance
Select item 3321306	NM_001330723.2(SNX27):c.20A>G (p.Glu7Gly)	LOC129931442, SNX27 (E7G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553382	NM_001330723.2(SNX27):c.31C>T (p.Pro11Ser)	LOC129931442, SNX27 (P11S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 849829	NM_001330723.2(SNX27):c.40C>T (p.Pro14Ser)	LOC129931442, SNX27 (P14S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 462814	NM_001330723.2(SNX27):c.41C>T (p.Pro14Leu)	LOC129931442, SNX27 (P14L)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy +2 more	GUncertain significance
Select item 2273018	NM_001330723.2(SNX27):c.45C>G (p.His15Gln)	LOC129931442, SNX27 (H15Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1350094	NM_001330723.2(SNX27):c.56G>A (p.Gly19Asp)	LOC129931442, SNX27 (G19D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3167255	NM_001330723.2(SNX27):c.59G>T (p.Gly20Val)	LOC129931442, SNX27 (G20V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167256	NM_001330723.2(SNX27):c.74G>T (p.Gly25Val)	LOC129931442, SNX27 (G25V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167253	NM_001330723.2(SNX27):c.139G>A (p.Val47Ile)	LOC129931442, SNX27 (V47I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance