"SNX27-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 760095	NM_001330723.2(SNX27):c.318C>T (p.His106=)	SNX27	Single nucleotide variant (synonymous variant)	SNX27-related condition +1 more	GLikely benign
Select item 2632546	NM_001330723.2(SNX27):c.464A>G (p.Tyr155Cys)	SNX27 (Y155C)	Single nucleotide variant (missense variant)	SNX27-related condition	GUncertain significance
Select item 462820	NM_001330723.2(SNX27):c.967G>A (p.Val323Met)	SNX27 (V323M)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy +1 more	GLikely benign
Select item 462822	NM_001330723.2(SNX27):c.984T>C (p.Phe328=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy +1 more	GBenign
Select item 462804	NM_001330723.2(SNX27):c.1156G>C (p.Asp386His)	SNX27 (D386H)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy +1 more	GLikely benign
Select item 3058829	NM_001330723.2(SNX27):c.1240-10_1240-3dup	SNX27	Duplication (intron variant)	SNX27-related condition	GLikely benign
Select item 3037200	NM_001330723.2(SNX27):c.1240-4_1240-3dup	SNX27	Duplication (intron variant)	SNX27-related condition	GBenign
Select item 3034008	NM_001330723.2(SNX27):c.1240-9_1240-3dup	SNX27	Duplication (intron variant)	SNX27-related condition	GLikely benign
Select item 3060478	NM_001330723.2(SNX27):c.1240-5_1240-3del	SNX27	Deletion (intron variant)	SNX27-related condition	GBenign
Select item 1536689	NM_001330723.2(SNX27):c.1240-4_1240-3del	SNX27	Deletion (intron variant)	SNX27-related condition +1 more	GBenign
Select item 462809	NM_001330723.2(SNX27):c.1329C>T (p.Ile443=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy +1 more	GBenign/Likely benign
Select item 462811	NM_001330723.2(SNX27):c.1365C>T (p.Ala455=)	SNX27	Single nucleotide variant (synonymous variant)	SNX27-related condition +1 more	GLikely benign