SNX10[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 144929	GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	LOC111365192, LOC111413014 +281 more	Copy number loss	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 151979	GRCh38/hg38 7p15.2(chr7:25903388-27022498)x1	CBX3, HNRNPA2B1 +41 more	Copy number loss	See cases	GLikely pathogenic
Select item 3024352	GRCh38/hg38 7p15.2(chr7:25988742-26495573)	CBX3, HNRNPA2B1 +24 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 1679112	NC_000007.14:g.26263639_26335651delinsCA	LOC129998145, LOC129998146 +2 more	Indel	Autosomal recessive osteopetrosis 8	GUncertain significance
Select item 1239347	NM_013322.3(SNX10):c.-23-333C>T	SNX10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227601	NM_013322.3(SNX10):c.-23-331T>C	SNX10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286408	NM_013322.3(SNX10):c.-23-214T>G	SNX10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1351408	NM_013322.3(SNX10):c.8C>T (p.Pro3Leu)	SNX10 (P3L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1600294	NM_013322.3(SNX10):c.9G>A (p.Pro3=)	SNX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1378555	NM_013322.3(SNX10):c.16C>T (p.Gln6Ter)	SNX10 (Q6*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2841169	NM_013322.3(SNX10):c.17A>C (p.Gln6Pro)	SNX10 (Q6P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1358690	NM_013322.3(SNX10):c.22G>A (p.Glu8Lys)	SNX10 (E8K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1349342	NM_013322.3(SNX10):c.24+1G>A	SNX10	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2804880	NM_013322.3(SNX10):c.24+8A>G	SNX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1634814	NM_013322.3(SNX10):c.24+18C>G	SNX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243137	NM_013322.3(SNX10):c.24+36T>A	SNX10	Single nucleotide variant (intron variant)	Autosomal recessive osteopetrosis 8 +1 more	GBenign
Select item 1221420	NM_013322.3(SNX10):c.24+68T>C	SNX10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3041611	NM_013322.3(SNX10):c.25-3869G>A	SNX10	Single nucleotide variant (synonymous variant +1 more)	SNX10-related disorder	GLikely benign
Select item 2817656	NM_013322.3(SNX10):c.25-19_25-16del	SNX10	Deletion (intron variant +1 more)	not provided	GLikely benign
Select item 1481727	NM_013322.3(SNX10):c.25-9C>A	SNX10 (P3T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 725914	NM_013322.3(SNX10):c.25-5T>C	SNX10 (L4S)	Single nucleotide variant (missense variant +1 more)	SNX10-related disorder +1 more	GBenign
Select item 1653390	NM_013322.3(SNX10):c.25-4A>G	SNX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1911522	NM_013322.3(SNX10):c.30T>G (p.Phe10Leu)	SNX10 (F7L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850781	NM_013322.3(SNX10):c.33A>G (p.Val11=)	SNX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1461709	NM_013322.3(SNX10):c.42G>T (p.Trp14Cys)	SNX10 (W14C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991930	NM_013322.3(SNX10):c.45T>G (p.Val15=)	SNX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 139565	NM_013322.3(SNX10):c.46C>T (p.Arg16Ter)	SNX10 (R16* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2112070	NM_013322.3(SNX10):c.85_86insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTGGCATTCTT (p.Tyr29fs)	SNX10 (Y29fs +2 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 1497540	NM_013322.3(SNX10):c.80A>G (p.His27Arg)	SNX10 (H27R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1451825	NM_013322.3(SNX10):c.87C>A (p.Tyr29Ter)	SNX10 (Y29* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1403102	NM_013322.3(SNX10):c.88A>G (p.Ile30Val)	SNX10 (I30V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466651	NM_013322.3(SNX10):c.94T>G (p.Tyr32Asp)	SNX10 (Y29D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714651	NM_013322.3(SNX10):c.95A>C (p.Tyr32Ser)	SNX10 (Y29S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2794892	NM_013322.3(SNX10):c.111+1G>T	SNX10	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1482385	NM_013322.3(SNX10):c.111+5G>A	SNX10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1469623	NM_013322.3(SNX10):c.111+5G>C	SNX10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2789909	NM_013322.3(SNX10):c.111+11A>G	SNX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642275	NM_013322.3(SNX10):c.111+11A>C	SNX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268145	NM_013322.3(SNX10):c.112-354A>G	SNX10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276583	NM_013322.3(SNX10):c.112-84G>A	SNX10	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1958507	NM_013322.3(SNX10):c.112-15A>G	SNX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1603795	NM_013322.3(SNX10):c.112-15A>C	SNX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2696024	NM_013322.3(SNX10):c.112-10C>T	SNX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957113	NM_013322.3(SNX10):c.121A>G (p.Met41Val)	SNX10 (M41V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1379202	NM_013322.3(SNX10):c.133A>G (p.Met45Val)	SNX10 (M71V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1404569	NM_013322.3(SNX10):c.143C>G (p.Ser48Cys)	SNX10 (S45C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 804401	NM_013322.3(SNX10):c.151C>T (p.Arg51Ter)	SNX10 (R77* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 40050	NM_013322.3(SNX10):c.152G>A (p.Arg51Gln)	SNX10 (R51Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2114434	NM_013322.3(SNX10):c.160T>C (p.Tyr54His)	SNX10 (Y51H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1597143	NM_013322.3(SNX10):c.162T>C (p.Tyr54=)	SNX10	Single nucleotide variant (synonymous variant +1 more)	SNX10-related disorder +1 more	GLikely benign
Select item 453176	NM_013322.3(SNX10):c.162T>A (p.Tyr54Ter)	SNX10 (Y54* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 744343	NM_013322.3(SNX10):c.171C>T (p.Phe57=)	SNX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1950620	NM_013322.3(SNX10):c.172G>A (p.Val58Met)	SNX10 (V58M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3013896	NM_013322.3(SNX10):c.178C>T (p.Leu60=)	SNX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1369116	NM_013322.3(SNX10):c.194A>G (p.Gln65Arg)	SNX10 (Q62R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 798887	NM_013322.3(SNX10):c.198T>C (p.Ser66=)	SNX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1402414	NM_013322.3(SNX10):c.203C>T (p.Ala68Val)	SNX10 (A65V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1536806	NM_013322.3(SNX10):c.204G>A (p.Ala68=)	SNX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2065178	NM_013322.3(SNX10):c.211G>A (p.Val71Ile)	SNX10 (V68I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 734655	NM_013322.3(SNX10):c.212+4A>T	SNX10	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1572168	NM_013322.3(SNX10):c.212+15G>A	SNX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1643481	NM_013322.3(SNX10):c.212+19A>G	SNX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1580246	NM_013322.3(SNX10):c.212+20_212+21del	SNX10	Deletion (intron variant)	not provided	GLikely benign
Select item 2018547	NM_013322.3(SNX10):c.213-20T>A	SNX10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2997882	NM_013322.3(SNX10):c.213-19G>T	SNX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1967437	NM_013322.3(SNX10):c.213-5C>G	SNX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1810243	NM_013322.3(SNX10):c.213-2A>G	SNX10	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1602749	NM_013322.3(SNX10):c.219G>C (p.Leu73=)	SNX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1448669	NM_013322.3(SNX10):c.230del (p.Pro77fs)	SNX10 (P103fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 749512	NM_013322.3(SNX10):c.234T>C (p.Ser78=)	SNX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1415234	NM_013322.3(SNX10):c.237A>G (p.Lys79=)	SNX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2545152	NM_013322.3(SNX10):c.247T>C (p.Phe83Leu)	SNX10 (F83L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1926821	NM_013322.3(SNX10):c.251A>G (p.Asn84Ser)	SNX10 (N110S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3167130	NM_013322.3(SNX10):c.254T>C (p.Met85Thr)	SNX10 (M111T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1516114	NM_013322.3(SNX10):c.259A>G (p.Asn87Asp)	SNX10 (N113D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2160189	NM_013322.3(SNX10):c.260A>G (p.Asn87Ser)	SNX10 (N84S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2198839	NM_013322.3(SNX10):c.262C>T (p.Arg88Cys)	SNX10 (R85C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495719	NM_013322.3(SNX10):c.262C>A (p.Arg88Ser)	SNX10 (R4S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878270	NM_013322.3(SNX10):c.263G>A (p.Arg88His)	SNX10 (R4H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1983980	NM_013322.3(SNX10):c.263G>T (p.Arg88Leu)	SNX10 (R88L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929722	NM_013322.3(SNX10):c.270C>T (p.His90=)	SNX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1043744	NM_013322.3(SNX10):c.271G>A (p.Val91Met)	SNX10 (V88M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2559844	NM_013322.3(SNX10):c.280C>G (p.Arg94Gly)	SNX10 (R10G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1904575	NM_013322.3(SNX10):c.281G>A (p.Arg94His)	SNX10 (R91H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2357216	NM_013322.3(SNX10):c.283C>T (p.Arg95Cys)	SNX10 (R11C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 635163	NM_013322.3(SNX10):c.284G>A (p.Arg95His)	SNX10 (R95H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1471078	NM_013322.3(SNX10):c.295G>C (p.Glu99Gln)	SNX10 (E99Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663932	NM_013322.3(SNX10):c.302del (p.Phe101fs)	SNX10 (F101fs +3 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 8	GLikely pathogenic
Select item 2127218	NM_013322.3(SNX10):c.301T>G (p.Phe101Val)	SNX10 (F101V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800608	NM_013322.3(SNX10):c.311+11_311+18dup	SNX10	Duplication (intron variant)	not provided	GLikely benign
Select item 2979181	NM_013322.3(SNX10):c.311+13A>C	SNX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1582063	NM_013322.3(SNX10):c.311+16C>G	SNX10	Single nucleotide variant (intron variant)	not provided	GLikely benign

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