SNX17[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806176, LOC126806177 +1047 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	ABHD1, ADCY3 +321 more	Copy number loss	See cases	GPathogenic
Select item 2532123	NM_014748.4(SNX17):c.181C>G (p.Pro61Ala)	SNX17 (P36A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3030746	NM_014748.4(SNX17):c.318A>G (p.Gln106=)	SNX17	Single nucleotide variant (synonymous variant +1 more)	SNX17-related condition	GLikely benign
Select item 2486962	NM_014748.4(SNX17):c.358G>A (p.Glu120Lys)	SNX17 (E120K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2650767	NM_014748.4(SNX17):c.432+8G>A	SNX17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2279677	NM_014748.4(SNX17):c.529C>T (p.Arg177Trp)	SNX17 (R152W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308224	NM_014748.4(SNX17):c.530G>A (p.Arg177Gln)	SNX17 (R152Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2405384	NM_014748.4(SNX17):c.563C>G (p.Ser188Cys)	SNX17 (S168C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289868	NM_014748.4(SNX17):c.644T>C (p.Met215Thr)	SNX17 (M195T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545232	NM_014748.4(SNX17):c.794C>T (p.Thr265Met)	SNX17 (T253M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2303371	NM_014748.4(SNX17):c.817C>T (p.Arg273Cys)	SNX17 (R253C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3050925	NM_014748.4(SNX17):c.873C>T (p.Ser291=)	SNX17	Single nucleotide variant (synonymous variant +1 more)	SNX17-related condition	GLikely benign
Select item 2517809	NM_014748.4(SNX17):c.875C>T (p.Ala292Val)	SNX17 (A272V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234063	NM_014748.4(SNX17):c.949C>T (p.Arg317Cys)	SNX17 (R292C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327953	NM_014748.4(SNX17):c.1025G>A (p.Gly342Asp)	SNX17 (G317D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2598696	NM_014748.4(SNX17):c.1208C>T (p.Thr403Ile)	SNX17 (T391I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3044940	NM_014748.4(SNX17):c.1223A>C (p.Asp408Ala)	SNX17 (D383A +3 more)	Single nucleotide variant (missense variant +1 more)	SNX17-related condition	GLikely benign
Select item 2547777	NM_014748.4(SNX17):c.1237G>A (p.Val413Met)	SNX17 (V393M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 335548	NM_014748.4(SNX17):c.554_558del	SNX17, ZNF513	Deletion (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Dominant	GUncertain significance
Select item 896993	NM_014748.4(SNX17):c.*572A>T	SNX17, ZNF513	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 897473	NM_014748.4(SNX17):c.*601C>T	SNX17, ZNF513	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 897474	NM_014748.4(SNX17):c.*609C>G	SNX17, ZNF513	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 897475	NM_014748.4(SNX17):c.*652C>T	SNX17, ZNF513	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 335549	NM_014748.4(SNX17):c.*653G>A	SNX17, ZNF513	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GBenign/Likely benign
Select item 897476	NM_014748.4(SNX17):c.*662C>T	SNX17, ZNF513	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 335550	NM_014748.4(SNX17):c.*692T>C	SNX17, ZNF513	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 335551	NM_014748.4(SNX17):c.*697C>T	SNX17, ZNF513	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 897477	NM_014748.4(SNX17):c.*766G>A	SNX17, ZNF513	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 898629	NM_014748.4(SNX17):c.*772G>A	SNX17, ZNF513	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 898630	NM_014748.4(SNX17):c.*797G>A	SNX17, ZNF513	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 898631	NM_014748.4(SNX17):c.*811G>A	ZNF513, SNX17	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 2427541	NC_000002.11:g.(?_24443763)_(29022169_?)dup	ZNF513, SLC5A6 +65 more	Duplication	not provided	GUncertain significance
Select item 2425074	NC_000002.11:g.(?_24443763)_(30143525_?)dup	SLC4A1AP, OTOF +72 more	Duplication	not provided	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	GALNT14, GAREM2 +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 814225	GRCh37/hg19 2p23.3(chr2:27519013-27610482)x1	PPM1G, GTF3C2 +6 more	Copy number loss	not provided	GUncertain significance
Select item 687014	GRCh37/hg19 2p23.3(chr2:27583585-27637745)x1	EIF2B4, PPM1G +2 more	Copy number loss	not provided	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic

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Items: 47