ClinVar for Gene (Select 92017) - ClinVar

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Links from Gene

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321309	NM_032167.5(SNX29):c.803C>T (p.Ser268Leu)	SNX29 (S268L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321307	NM_032167.5(SNX29):c.1097A>G (p.His366Arg)	SNX29 (H366R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167265	NM_032167.5(SNX29):c.997G>A (p.Gly333Arg)	SNX29 (G333R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167264	NM_032167.5(SNX29):c.947A>G (p.Asn316Ser)	SNX29 (N316S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167262	NM_032167.5(SNX29):c.892C>T (p.Arg298Cys)	SNX29 (R298C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167261	NM_032167.5(SNX29):c.412G>A (p.Asp138Asn)	SNX29 (D138N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167260	NM_032167.5(SNX29):c.400A>G (p.Met134Val)	SNX29 (M134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167259	NM_032167.5(SNX29):c.367C>G (p.Leu123Val)	SNX29 (L123V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167258	NM_032167.5(SNX29):c.253G>A (p.Val85Met)	SNX29 (V85M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167257	NM_032167.5(SNX29):c.1064A>G (p.Asp355Gly)	SNX29 (D355G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685557	GRCh37/hg19 16p13.13-13.12(chr16:11444572-12722447)x1	BCAR4, GSPT1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 2684788	GRCh37/hg19 16p13.13-13.12(chr16:12229416-12915390)x3	CPPED1, SNX29	Copy number gain	not provided	GUncertain significance
Select item 2646237	NM_032167.5(SNX29):c.2349C>T (p.Asn783=)	SNX29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646236	NM_032167.5(SNX29):c.1511C>T (p.Ala504Val)	SNX29 (A504V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2646235	NM_032167.5(SNX29):c.853A>T (p.Thr285Ser)	SNX29 (T285S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2646234	NM_032167.5(SNX29):c.711C>T (p.Thr237=)	SNX29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646233	NM_032167.5(SNX29):c.585C>G (p.Leu195=)	SNX29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2531496	NM_032167.5(SNX29):c.431C>T (p.Thr144Ile)	SNX29 (T144I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516994	NM_032167.5(SNX29):c.415C>T (p.Arg139Cys)	SNX29 (R139C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494991	NM_032167.5(SNX29):c.268G>A (p.Val90Met)	SNX29 (V90M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480265	NM_032167.5(SNX29):c.958A>G (p.Ser320Gly)	SNX29 (S320G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469406	NM_032167.5(SNX29):c.679G>A (p.Val227Ile)	SNX29 (V227I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457439	NM_032167.5(SNX29):c.649C>G (p.Leu217Val)	SNX29 (L217V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405052	NM_032167.5(SNX29):c.80G>A (p.Arg27His)	SNX29 (R27H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389683	NM_032167.5(SNX29):c.889G>A (p.Asp297Asn)	SNX29 (D297N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387882	NM_032167.5(SNX29):c.373G>A (p.Glu125Lys)	SNX29 (E125K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384226	NM_032167.5(SNX29):c.1115C>T (p.Ser372Leu)	SNX29 (S372L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382110	NM_032167.5(SNX29):c.301C>T (p.Arg101Cys)	SNX29 (R101C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378231	NM_032167.5(SNX29):c.995A>C (p.Asn332Thr)	SNX29 (N332T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375759	NM_032167.5(SNX29):c.316C>T (p.Arg106Cys)	SNX29 (R106C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368296	NM_032167.5(SNX29):c.770G>T (p.Arg257Leu)	SNX29 (R257L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353981	NM_032167.5(SNX29):c.475A>G (p.Ser159Gly)	SNX29 (S159G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2350321	NM_032167.5(SNX29):c.506A>G (p.Asn169Ser)	SNX29 (N169S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329130	NM_032167.5(SNX29):c.916G>T (p.Ala306Ser)	SNX29 (A306S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322475	NM_032167.5(SNX29):c.625G>C (p.Glu209Gln)	SNX29 (E209Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307744	NM_032167.5(SNX29):c.359G>A (p.Arg120His)	SNX29 (R120H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302182	NM_032167.5(SNX29):c.1060G>A (p.Glu354Lys)	SNX29 (E354K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293823	NM_032167.5(SNX29):c.746C>T (p.Ala249Val)	SNX29 (A249V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292416	NM_032167.5(SNX29):c.392A>G (p.Tyr131Cys)	SNX29 (Y131C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231086	NM_032167.5(SNX29):c.916G>A (p.Ala306Thr)	SNX29 (A306T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223809	NM_032167.5(SNX29):c.1117C>T (p.Pro373Ser)	SNX29 (P373S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215182	NM_032167.5(SNX29):c.154G>A (p.Val52Ile)	SNX29 (V52I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208884	NM_032167.5(SNX29):c.841G>A (p.Val281Met)	SNX29 (V281M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809399	GRCh37/hg19 16p13.13(chr16:12007435-12073710)x1	GSPT1, SNX29 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1809030	GRCh37/hg19 16p13.2-13.13(chr16:10423631-12176517)x3	CIITA, ATF7IP2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1808469	GRCh37/hg19 16p13.13(chr16:12170523-12374728)x3	SNX29	Copy number gain	not provided	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1526502	GRCh37/hg19 16p13.13-13.12(chr16:11364838-13592668)	SNN, SNX29 +13 more	Copy number gain	not specified	GUncertain significance
Select item 1340789	GRCh37/hg19 16p13.13(chr16:12278972-12338544)x1	SNX29	Copy number loss	not provided	GLikely benign
Select item 1340054	GRCh37/hg19 16p13.13(chr16:12007434-12085776)x1	GSPT1, SNX29 +1 more	Copy number loss	not provided	GUncertain significance
Select item 994097	NM_032167.5(SNX29):c.1363_1364del (p.Leu455fs)	SNX29 (L455fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 980563	GRCh37/hg19 16p13.13(chr16:12039345-12256698)x3	SNX29, TNFRSF17	Copy number gain	not provided	GUncertain significance
Select item 980086	GRCh37/hg19 16p13.13(chr16:12117856-12374728)x3	SNX29	Copy number gain	not provided	GUncertain significance
Select item 980084	GRCh37/hg19 16p13.13(chr16:12204015-12420150)x1	SNX29	Copy number loss	not provided	GLikely benign
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 685893	GRCh37/hg19 16p13.13-13.12(chr16:11922647-12621101)x3	BCAR4, GSPT1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 564276	GRCh37/hg19 16p13.13(chr16:12327596-12397665)x1	SNX29	Copy number loss	not provided	GLikely benign
Select item 564275	GRCh37/hg19 16p13.13(chr16:12120389-12452622)x1	SNX29	Copy number loss	not provided	GLikely benign
Select item 564274	GRCh37/hg19 16p13.13-13.12(chr16:12007434-14781381)x1	BFAR, CPPED1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 564273	GRCh37/hg19 16p13.13(chr16:11954001-12161925)x3	GSPT1, TNFRSF17 +1 more	Copy number gain	not provided	GUncertain significance
Select item 561979	GRCh37/hg19 16p13.13-13.12(chr16:12389767-13081111)x3	SHISA9, SNX29 +1 more	Copy number gain	not provided	GUncertain significance
Select item 545184	Single allele	BCAR4, CPPED1 +85 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 441858	GRCh37/hg19 16p13.2-13.13(chr16:9631472-12128275)x3	ATF7IP2, BCAR4 +22 more	Copy number gain	See cases	GUncertain significance
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 394836	GRCh37/hg19 16p13.13-13.12(chr16:12239818-12652287)x3	SNX29	Copy number gain	See cases	GLikely benign
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 153166	GRCh38/hg38 16p13.13(chr16:12124659-12483947)x1	LOC101927227, LOC112296185 +13 more	Copy number loss	See cases	GUncertain significance
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 148522	GRCh38/hg38 16p13.13-13.11(chr16:11952467-15186199)x1	BFAR, CPPED1 +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58701	GRCh38/hg38 16p13.13-13.11(chr16:11967831-15162888)x1	BFAR, CPPED1 +110 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 81