SNX18[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	LOC123497907, LOC123497908 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	ACTBL2, ANKRD55 +518 more	Copy number gain	See cases	GPathogenic
Select item 148959	GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3	ANKRD55, ARL15 +125 more	Copy number gain	See cases	GUncertain significance
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 59608	GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1	ARL15, CCNO +96 more	Copy number loss	See cases	GPathogenic
Select item 153338	GRCh38/hg38 5q11.2(chr5:53969356-54618645)x3	ARL15, HSPB3 +7 more	Copy number gain	See cases	GLikely benign
Select item 2547482	NM_001102575.2(SNX18):c.34A>G (p.Arg12Gly)	SNX18 (R12G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351833	NM_001102575.2(SNX18):c.124G>C (p.Val42Leu)	SNX18 (V42L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324502	NM_001102575.2(SNX18):c.124G>A (p.Val42Ile)	SNX18 (V42I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550587	NM_001102575.2(SNX18):c.158C>T (p.Ala53Val)	SNX18 (A53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167185	NM_001102575.2(SNX18):c.173T>A (p.Val58Glu)	SNX18 (V58E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167187	NM_001102575.2(SNX18):c.215C>T (p.Pro72Leu)	SNX18 (P72L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336079	NM_001102575.2(SNX18):c.224C>T (p.Pro75Leu)	SNX18 (P75L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348098	NM_001102575.2(SNX18):c.239A>G (p.Asn80Ser)	SNX18 (N80S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307649	NM_001102575.2(SNX18):c.278C>T (p.Pro93Leu)	SNX18 (P93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296606	NM_001102575.2(SNX18):c.278C>G (p.Pro93Arg)	SNX18 (P93R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291085	NM_001102575.2(SNX18):c.332A>G (p.Gln111Arg)	SNX18 (Q111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167189	NM_001102575.2(SNX18):c.338C>T (p.Ala113Val)	SNX18 (A113V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293617	NM_001102575.2(SNX18):c.346C>G (p.Pro116Ala)	SNX18 (P116A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381906	NM_001102575.2(SNX18):c.365C>T (p.Pro122Leu)	SNX18 (P122L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493512	NM_001102575.2(SNX18):c.373G>A (p.Gly125Ser)	SNX18 (G125S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167190	NM_001102575.2(SNX18):c.379C>A (p.Pro127Thr)	SNX18 (P127T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208006	NM_001102575.2(SNX18):c.380C>G (p.Pro127Arg)	SNX18 (P127R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167191	NM_001102575.2(SNX18):c.463G>A (p.Asp155Asn)	SNX18 (D155N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791259	NM_001102575.2(SNX18):c.495G>C (p.Ala165=)	SNX18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2296920	NM_001102575.2(SNX18):c.629T>A (p.Val210Asp)	SNX18 (V210D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776044	NM_001102575.2(SNX18):c.879G>A (p.Lys293=)	SNX18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2518985	NM_001102575.2(SNX18):c.928C>T (p.His310Tyr)	SNX18 (H310Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407991	NM_001102575.2(SNX18):c.1030T>G (p.Phe344Val)	SNX18 (F344V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558031	NM_001102575.2(SNX18):c.1117G>A (p.Asp373Asn)	SNX18 (D373N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293273	NM_001102575.2(SNX18):c.1124T>A (p.Phe375Tyr)	SNX18 (F375Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237233	NM_001102575.2(SNX18):c.1138A>T (p.Thr380Ser)	SNX18 (T380S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358218	NM_001102575.2(SNX18):c.1213G>C (p.Ala405Pro)	SNX18 (A405P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274632	NM_001102575.2(SNX18):c.1231C>T (p.Leu411Phe)	SNX18 (L411F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366752	NM_001102575.2(SNX18):c.1243C>T (p.Pro415Ser)	SNX18 (P415S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167183	NM_001102575.2(SNX18):c.1252G>T (p.Ala418Ser)	SNX18 (A418S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167184	NM_001102575.2(SNX18):c.1265A>G (p.Gln422Arg)	SNX18 (Q422R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782698	NM_001102575.2(SNX18):c.1409C>G (p.Ser470Cys)	SNX18 (S470C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2341594	NM_001102575.2(SNX18):c.1598C>T (p.Pro533Leu)	SNX18 (P533L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292290	NM_001102575.2(SNX18):c.1621+55G>A	SNX18 (G559E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459929	NM_001102575.2(SNX18):c.1621+118G>T	SNX18 (S580I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227363	NM_001102575.2(SNX18):c.1621+132G>A	SNX18 (A585T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354614	NM_001102575.2(SNX18):c.1621+193A>G	SNX18 (Y605C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618485	NM_001102575.2(SNX18):c.1621+210G>A	SNX18 (E611K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408387	NM_001102575.2(SNX18):c.1621+211A>C	SNX18 (E611A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372733	NM_001102575.2(SNX18):c.1621+250C>T	SNX18 (T624I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167186	NM_001102575.2(SNX18):c.1621+261T>C	SNX18 (F628L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551951	NM_001102575.2(SNX18):c.1657G>A (p.Val553Met)	SNX18 (V553M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062842	GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1	ACTBL2, ANKRD55 +35 more	Copy number loss	not specified	GLikely pathogenic
Select item 2424366	NC_000005.9:g.(?_52285299)_(56189507_?)del	GZMA, FST +23 more	Deletion	not provided	GPathogenic
Select item 688600	GRCh37/hg19 5q11.2(chr5:53263426-53916242)x3	ARL15, HSPB3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 686287	GRCh37/hg19 5q11.2(chr5:53308304-53821701)x3	ARL15, HSPB3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 635932	NC_000005.9:g.53180658_54552379dup	ARL15, CCNO +11 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563065	GRCh37/hg19 5q11.2(chr5:53831979-54193193)x3	SNX18	Copy number gain	not provided	GLikely benign
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 394638	GRCh37/hg19 5q11.2(chr5:53378898-54011892)x3	ARL15, HSPB3 +1 more	Copy number gain	See cases	GUncertain significance
Select item 268060	GRCh37/hg19 5q11.2(chr5:53316271-53815560)x3	HSPB3, SNX18 +1 more	Copy number gain	See cases	GUncertain significance
Select item 226251	GRCh37/hg19 5q11.2(chr5:53784524-54985838)	SLC38A9, SNX18 +12 more	Copy number loss	Abnormal esophagus morphology	GLikely benign

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Items: 61