ClinVar for Gene (Select 29887) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 175

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062961	GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1	ABCB5, AGMO +71 more	Copy number loss	not specified	GPathogenic
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 3024352	GRCh38/hg38 7p15.2(chr7:25988742-26495573)	CBX3, HNRNPA2B1 +24 more	Copy number gain	Autism spectrum disorder	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 3013051	NM_013322.3(SNX10):c.525-4C>T	SNX10, SNX10-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2997882	NM_013322.3(SNX10):c.213-19G>T	SNX10	Single nucleotide variant (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 2964029	NM_013322.3(SNX10):c.525-16CT[2]	SNX10-AS1, SNX10	Microsatellite (non-coding transcript variant +1 more)	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 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 2876765	NM_013322.3(SNX10):c.502G>T (p.Asp168Tyr)	SNX10 (D194Y +3 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 2842567	NM_013322.3(SNX10):c.411G>C (p.Gln137His)	SNX10 (Q53H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2821979	NM_013322.3(SNX10):c.312-7A>T	SNX10	Single nucleotide variant (intron variant)	not provided	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 2804880	NM_013322.3(SNX10):c.24+8A>G	SNX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800608	NM_013322.3(SNX10):c.311+11_311+18dup	SNX10	Duplication (intron variant)	not provided	GLikely benign
Select item 2799987	NM_013322.3(SNX10):c.420C>T (p.Tyr140=)	SNX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794892	NM_013322.3(SNX10):c.111+1G>T	SNX10	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2789909	NM_013322.3(SNX10):c.111+11A>G	SNX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789891	NM_013322.3(SNX10):c.338C>G (p.Ser113Ter)	SNX10 (S113* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2750143	NM_013322.3(SNX10):c.525-20C>A	SNX10, SNX10-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2733131	NM_013322.3(SNX10):c.387C>T (p.Asp129=)	SNX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2699294	NM_013322.3(SNX10):c.525-14C>T	SNX10, SNX10-AS1	Single nucleotide variant (intron variant +1 more)	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 2663932	NM_013322.3(SNX10):c.302del (p.Phe101fs)	SNX10 (F101fs +3 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 8	GLikely pathogenic
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 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 2476340	NM_013322.3(SNX10):c.566C>T (p.Ser189Leu)	SNX10, SNX10-AS1 (S186L +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2423963	NC_000007.13:g.(?_26386063)_(26412192_?)dup	SNX10	Duplication	not provided	GUncertain significance
Select item 2415143	NM_013322.3(SNX10):c.396G>A (p.Ala132=)	SNX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2271991	NM_013322.3(SNX10):c.602C>T (p.Ser201Phe)	SNX10, SNX10-AS1 (S201F +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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 2179825	NM_013322.3(SNX10):c.395C>T (p.Ala132Val)	SNX10 (A132V +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 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 2124250	NM_013322.3(SNX10):c.531C>G (p.Ser177=)	SNX10, SNX10-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2123871	NM_013322.3(SNX10):c.458A>G (p.Asn153Ser)	SNX10 (N153S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2112070	NM_013322.3(SNX10):c.85_86insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTGGCATTCTT (p.Tyr29fs)	SNX10 (Y29fs +2 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2110070	NM_013322.3(SNX10):c.482AAG[1] (p.Glu162del)	SNX10 (E162del +3 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2109399	NM_013322.3(SNX10):c.501T>C (p.Asn167=)	SNX10	Single nucleotide variant (synonymous variant)	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 2058198	NM_013322.3(SNX10):c.525-20C>T	SNX10, SNX10-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	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 1992125	NM_013322.3(SNX10):c.525-4C>G	SNX10, SNX10-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1991930	NM_013322.3(SNX10):c.45T>G (p.Val15=)	SNX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1991290	NM_013322.3(SNX10):c.312-8del	SNX10	Deletion (intron variant)	not provided	GBenign
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 1967437	NM_013322.3(SNX10):c.213-5C>G	SNX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1959424	NM_013322.3(SNX10):c.479A>G (p.Asp160Gly)	SNX10 (D157G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958507	NM_013322.3(SNX10):c.112-15A>G	SNX10	Single nucleotide variant (intron variant)	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 1929722	NM_013322.3(SNX10):c.270C>T (p.His90=)	SNX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1927555	NM_013322.3(SNX10):c.524+11G>A	SNX10, SNX10-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 1920071	NM_013322.3(SNX10):c.506T>C (p.Ile169Thr)	SNX10 (I85T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1915096	NM_013322.3(SNX10):c.334C>A (p.Leu112Ile)	SNX10 (L138I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1810243	NM_013322.3(SNX10):c.213-2A>G	SNX10	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1719040	NM_013322.3(SNX10):c.413C>T (p.Thr138Ile)	SNX10 (T135I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1714637	NM_013322.3(SNX10):c.319C>A (p.Gln107Lys)	SNX10 (Q104K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703687	GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069)	ADCYAP1R1, AQP1 +55 more	Copy number loss	Cyclical vomiting syndrome	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1679112	NC_000007.14:g.26263639_26335651delinsCA	LOC129998145, LOC129998146 +2 more	Indel	Autosomal recessive osteopetrosis 8	GUncertain significance
Select item 1669990	NM_013322.3(SNX10):c.354C>T (p.His118=)	SNX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1661383	NM_013322.3(SNX10):c.525-16del	SNX10, SNX10-AS1	Deletion (non-coding transcript variant +1 more)	not provided	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 1643481	NM_013322.3(SNX10):c.212+19A>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 1634814	NM_013322.3(SNX10):c.24+18C>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 1602749	NM_013322.3(SNX10):c.219G>C (p.Leu73=)	SNX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 1582063	NM_013322.3(SNX10):c.311+16C>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 1573480	NM_013322.3(SNX10):c.537G>A (p.Gly179=)	SNX10, SNX10-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	SNX10-related disorder +1 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 1536806	NM_013322.3(SNX10):c.204G>A (p.Ala68=)	SNX10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1534562	NM_013322.3(SNX10):c.504T>C (p.Asp168=)	SNX10	Single nucleotide variant (synonymous variant)	SNX10-related disorder +1 more	GLikely benign
Select item 1533579	NM_013322.3(SNX10):c.312-8dup	SNX10	Duplication (intron variant)	SNX10-related disorder +1 more	GBenign
Select item 1527344	GRCh37/hg19 7p15.2(chr7:26270121-27193008)	HOTAIRM1, HOXA1 +8 more	Copy number gain	not specified	GUncertain significance
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
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 1505826	NM_013322.3(SNX10):c.593C>T (p.Pro198Leu)	SNX10, SNX10-AS1 (P195L +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 1492748	NM_013322.3(SNX10):c.464G>A (p.Arg155His)	SNX10 (R152H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1482385	NM_013322.3(SNX10):c.111+5G>A	SNX10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1473768	NM_013322.3(SNX10):c.459T>C (p.Asn153=)	SNX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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

<< First< Prev

Page of 2