SNX15[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2335214	NM_013306.5(SNX15):c.88G>C (p.Val30Leu)	SNX15, ARL2-SNX15 (V30L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608065	NM_013306.5(SNX15):c.157A>G (p.Ser53Gly)	ARL2-SNX15, SNX15 (S53G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2557651	NM_013306.5(SNX15):c.286C>T (p.Arg96Trp)	ARL2-SNX15, SNX15 (R96W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308773	NM_013306.5(SNX15):c.314G>A (p.Arg105His)	SNX15, ARL2-SNX15 (R105H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293272	NM_013306.5(SNX15):c.430C>T (p.Pro144Ser)	ARL2-SNX15, SNX15 (P144S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2587967	NM_013306.5(SNX15):c.464G>A (p.Arg155Gln)	ARL2-SNX15, SNX15 (R155Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2366384	NM_013306.5(SNX15):c.530C>T (p.Pro177Leu)	SNX15, ARL2-SNX15 (P177L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240336	NM_013306.5(SNX15):c.646G>T (p.Asp216Tyr)	SNX15, ARL2-SNX15 (D216Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364590	NM_013306.5(SNX15):c.680G>C (p.Ser227Thr)	ARL2-SNX15, SNX15 (S227T)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2373547	NM_013306.5(SNX15):c.689A>C (p.His230Pro)	SNX15, ARL2-SNX15 (H230P)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2360567	NM_013306.5(SNX15):c.706A>G (p.Thr236Ala)	ARL2-SNX15, SNX15 (T236A)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2496053	NM_013306.5(SNX15):c.866C>T (p.Ala289Val)	ARL2-SNX15, SNX15 (A289V)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2597721	NM_013306.5(SNX15):c.868G>A (p.Ala290Thr)	ARL2-SNX15, SNX15 (A290T)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2280596	NM_013306.5(SNX15):c.983G>T (p.Arg328Leu)	SNX15, ARL2-SNX15 (R242L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347240	NM_013306.5(SNX15):c.1021C>G (p.Pro341Ala)	SNX15, ARL2-SNX15 (P341A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684648	GRCh37/hg19 11q13.1(chr11:64573225-65193732)x3	ARL2, ATG2A +29 more	Copy number gain	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	DRAP1, SNX32 +81 more	Deletion	Glycogen storage disease, type V +1 more	GPathogenic
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 687992	GRCh37/hg19 11q13.1(chr11:64396501-64883447)x3	ARL2, ATG2A +21 more	Copy number gain	not provided	GUncertain significance
Select item 634998	dup(11)(q13.1q13.1)	ARL2, ATG2A +74 more	Duplication	Ependymoma	GLikely pathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic

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Items: 27