"Ambry Genetics"[submitter] AND "SNX27"[gene] - ClinVar

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Items: 29

	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
Select item 972299	NM_001330723.2(SNX27):c.323A>G (p.Asn108Ser)	SNX27 (N108S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2318787	NM_001330723.2(SNX27):c.347A>G (p.Gln116Arg)	SNX27 (Q116R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 665660	NM_001330723.2(SNX27):c.422A>T (p.Asp141Val)	SNX27 (D141V)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy +1 more	GUncertain significance
Select item 1078569	NM_001330723.2(SNX27):c.802-4C>T	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy +1 more	GConflicting classifications of pathogenicity
Select item 2242632	NM_001330723.2(SNX27):c.895C>G (p.Gln299Glu)	SNX27 (Q299E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 952622	NM_001330723.2(SNX27):c.914C>T (p.Ala305Val)	SNX27 (A305V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 531718	NM_001330723.2(SNX27):c.938C>T (p.Thr313Met)	SNX27 (T313M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2082182	NM_001330723.2(SNX27):c.988C>T (p.Arg330Cys)	SNX27 (R330C)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy +1 more	GUncertain significance
Select item 3167252	NM_001330723.2(SNX27):c.1027A>G (p.Ile343Val)	SNX27 (I343V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2313011	NM_001330723.2(SNX27):c.1073G>A (p.Arg358Gln)	SNX27 (R358Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 955042	NM_001330723.2(SNX27):c.1124T>G (p.Leu375Arg)	SNX27 (L375R)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy +1 more	GUncertain significance
Select item 708088	NM_001330723.2(SNX27):c.1237A>T (p.Met413Leu)	SNX27 (M413L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 644512	NM_001330723.2(SNX27):c.1274A>G (p.Asn425Ser)	SNX27 (N425S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 462808	NM_001330723.2(SNX27):c.1324G>A (p.Val442Ile)	SNX27 (V442I)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy +1 more	GUncertain significance
Select item 531720	NM_001330723.2(SNX27):c.1427G>T (p.Arg476Leu)	SNX27 (R476L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3167254	NM_001330723.2(SNX27):c.1447G>C (p.Gly483Arg)	SNX27 (G483R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321305	NM_001330723.2(SNX27):c.1528A>G (p.Met510Val)	SNX27 (M510V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 29