SNX22[gene] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 2616201	NM_024798.3(SNX22):c.47C>T (p.Pro16Leu)	LOC130057269, SNX22 (P16L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237921	NM_024798.3(SNX22):c.50G>C (p.Arg17Thr)	LOC130057269, SNX22 (R17T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167237	NM_024798.3(SNX22):c.61G>A (p.Glu21Lys)	LOC130057269, SNX22 (E21K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602105	NM_024798.3(SNX22):c.152A>G (p.His51Arg)	LOC130057270, SNX22 (H51R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273082	NM_024798.3(SNX22):c.194C>T (p.Ser65Leu)	SNX22 (S65L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374007	NM_024798.3(SNX22):c.272T>G (p.Leu91Arg)	SNX22 (L91R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593435	NM_024798.3(SNX22):c.283C>A (p.Gln95Lys)	SNX22 (Q95K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399406	NM_024798.3(SNX22):c.353A>G (p.Asn118Ser)	SNX22 (N118S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2309353	NM_024798.3(SNX22):c.380C>G (p.Pro127Arg)	SNX22 (P127R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167235	NM_024798.3(SNX22):c.382G>A (p.Gly128Ser)	SNX22 (G128S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2611187	NM_024798.3(SNX22):c.410G>A (p.Arg137Gln)	SNX22 (R137Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167236	NM_024798.3(SNX22):c.464C>T (p.Ser155Leu)	SNX22 (S155L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3321299	NM_024798.3(SNX22):c.529A>G (p.Lys177Glu)	SNX22 (K177E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 316695	NM_000942.5(PPIB):c.*204dup	PPIB, SNX22	Duplication (3 prime UTR variant +1 more)	Osteogenesis Imperfecta, Recessive +1 more	GBenign/Likely benign
Select item 316697	NM_000942.5(PPIB):c.201_202dup	SNX22, PPIB	Duplication (3 prime UTR variant +1 more)	Osteogenesis Imperfecta, Recessive +1 more	GUncertain significance
Select item 316696	NM_000942.5(PPIB):c.*202dup	PPIB, SNX22	Duplication (3 prime UTR variant +1 more)	Osteogenesis Imperfecta, Recessive +1 more	GBenign
Select item 316699	NM_000942.5(PPIB):c.*190T>G	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 9	GUncertain significance
Select item 316698	NM_000942.5(PPIB):c.*189dup	PPIB, SNX22	Duplication (3 prime UTR variant +1 more)	Osteogenesis Imperfecta, Recessive	GUncertain significance
Select item 885311	NM_000942.5(PPIB):c.*154C>T	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 9	GUncertain significance
Select item 885312	NM_000942.5(PPIB):c.*80C>T	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 9	GUncertain significance
Select item 885313	NM_000942.5(PPIB):c.*65G>C	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 9	GUncertain significance
Select item 886214	NM_000942.5(PPIB):c.*21T>A	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 9	GBenign
Select item 886215	NM_000942.5(PPIB):c.*14C>A	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 9	GUncertain significance
Select item 316700	NM_000942.5(PPIB):c.*12A>G	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 9	GUncertain significance
Select item 1505005	NM_000942.5(PPIB):c.646G>T (p.Glu216Ter)	PPIB, SNX22 (E216*)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 1702049	NM_000942.5(PPIB):c.640G>T (p.Ala214Ser)	PPIB, SNX22 (A214S)	Single nucleotide variant (missense variant +2 more)	Osteogenesis imperfecta	GUncertain significance
Select item 2921248	NM_000942.5(PPIB):c.626A>G (p.Lys209Arg)	PPIB, SNX22 (K209R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2185123	NM_000942.5(PPIB):c.624G>A (p.Glu208=)	PPIB, SNX22	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 3309168	NM_000942.5(PPIB):c.616G>A (p.Glu206Lys)	PPIB, SNX22 (E206K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 811804	NM_000942.5(PPIB):c.615C>T (p.Ile205=)	PPIB, SNX22	Single nucleotide variant (synonymous variant +2 more)	Osteogenesis imperfecta type 9	GLikely benign
Select item 757737	NM_000942.5(PPIB):c.606C>T (p.Cys202=)	PPIB, SNX22	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 426916	NM_000942.5(PPIB):c.602A>G (p.Asp201Gly)	PPIB, SNX22 (D201G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 316701	NM_000942.5(PPIB):c.597C>T (p.Ile199=)	PPIB, SNX22	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2921230	NM_000942.5(PPIB):c.580C>T (p.Leu194=)	PPIB, SNX22	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 218476	NM_000942.5(PPIB):c.569G>A (p.Arg190Gln)	PPIB, SNX22 (R190Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 41422	NM_000942.5(PPIB):c.563_566del (p.Asp188fs)	PPIB, SNX22 (D188fs)	Microsatellite (frameshift variant +2 more)	Osteogenesis imperfecta type 9	GPathogenic
Select item 16925	NM_000942.5(PPIB):c.556_559del (p.Lys186fs)	PPIB, SNX22 (K186fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 1376786	NM_000942.5(PPIB):c.548A>C (p.Glu183Ala)	PPIB, SNX22 (E183A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 674934	NM_000942.5(PPIB):c.529-21G>A	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +2 more)	Osteogenesis imperfecta type 9 +1 more	GBenign
Select item 675189	NM_000942.5(PPIB):c.529-116T>A	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1204758	NM_000942.5(PPIB):c.529-180G>A	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 886216	NM_000942.5(PPIB):c.528+14G>A	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2691627	NM_000942.5(PPIB):c.528+5G>A	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1698658	NM_000942.5(PPIB):c.528+1G>C	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +2 more)	Osteogenesis imperfecta	GLikely pathogenic
Select item 1419647	NM_000942.5(PPIB):c.510C>T (p.Gly170=)	PPIB, SNX22	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1393219	NM_000942.5(PPIB):c.509G>A (p.Gly170Asp)	PPIB, SNX22 (G170D)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 31846	NM_000942.5(PPIB):c.492C>G (p.Gly164=)	PPIB, SNX22	Single nucleotide variant (synonymous variant +2 more)	not provided	Gnot provided
Select item 3309169	NM_000942.5(PPIB):c.473A>G (p.Lys158Arg)	PPIB, SNX22 (K158R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2048563	NM_000942.5(PPIB):c.465G>A (p.Thr155=)	PPIB, SNX22	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2026810	NM_000942.5(PPIB):c.459C>T (p.Phe153=)	PPIB, SNX22	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 16926	NM_000942.5(PPIB):c.451C>T (p.Gln151Ter)	PPIB, SNX22 (Q151*)	Single nucleotide variant (nonsense +2 more)	Osteogenesis imperfecta type 9	GPathogenic
Select item 993764	NM_000942.5(PPIB):c.445G>A (p.Gly149Ser)	PPIB, SNX22 (G149S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 886217	NM_000942.5(PPIB):c.444C>T (p.Asn148=)	PPIB, SNX22	Single nucleotide variant (synonymous variant +2 more)	Osteogenesis imperfecta type 9	GUncertain significance
Select item 2040342	NM_000942.5(PPIB):c.443A>C (p.Asn148Thr)	PPIB, SNX22 (N148T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1344893	NM_000942.5(PPIB):c.434_435del (p.Lys145fs)	PPIB, SNX22 (K145fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 316702	NM_000942.5(PPIB):c.426C>T (p.Asn142=)	PPIB, SNX22	Single nucleotide variant (synonymous variant +2 more)	Osteogenesis imperfecta type 9	GUncertain significance
Select item 2180199	NM_000942.5(PPIB):c.425A>G (p.Asn142Ser)	PPIB, SNX22 (N142S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 31842	NM_000942.5(PPIB):c.414_423del (p.Ser139fs)	PPIB, SNX22 (S139fs)	Deletion (frameshift variant +2 more)	not provided	Gnot provided
Select item 423387	NM_000942.5(PPIB):c.414_417dup (p.Met140fs)	SNX22, PPIB (M140fs)	Duplication (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 2012622	NM_000942.5(PPIB):c.416G>T (p.Ser139Ile)	PPIB, SNX22 (S139I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1445657	NM_000942.5(PPIB):c.416G>A (p.Ser139Asn)	PPIB, SNX22 (S139N)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 266118	NM_000942.5(PPIB):c.399_401dup (p.Gly134_Pro135insGly)	PPIB, SNX22	Duplication (inframe_indel +3 more)	Osteogenesis imperfecta	GUncertain significance
Select item 1582290	NM_000942.5(PPIB):c.372C>T (p.Pro124=)	PPIB, SNX22	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 316703	NM_000942.5(PPIB):c.364C>T (p.Arg122Cys)	PPIB, SNX22 (R122C)	Single nucleotide variant (missense variant +2 more)	Osteogenesis imperfecta type 9 +1 more	GUncertain significance
Select item 887218	NM_000942.5(PPIB):c.359G>A (p.Gly120Asp)	PPIB, SNX22 (G120D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3217183	NM_000942.5(PPIB):c.351C>G (p.Ser117Arg)	PPIB, SNX22 (S117R)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1530697	NM_000942.5(PPIB):c.351C>T (p.Ser117=)	PPIB, SNX22	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2119547	NM_000942.5(PPIB):c.347A>G (p.Lys116Arg)	PPIB, SNX22 (K116R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 993834	NM_000942.5(PPIB):c.344-1G>T	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 1918653	NM_000942.5(PPIB):c.344-18C>T	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 811590	NM_000942.5(PPIB):c.344-61C>T	SNX22, PPIB	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign/Likely benign
Select item 2424797	NC_000015.9:g.(?_62146656)_(64747263_?)del	APH1B, RPS27L +19 more	Deletion	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	B2M, CTXN2 +472 more	Duplication	Bloom syndrome +1 more	GUncertain significance
Select item 560063	Single allele	ANKDD1A, APH1B +40 more	Deletion	Nemaline myopathy 6	GLikely pathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic

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Items: 81