23664[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58780	GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1	ACTR1A, ARL3 +121 more	Copy number loss	See cases	GPathogenic
Select item 3572	NC_000010.11:g.(102444036_?)_(?_104726221)del	ACTR1A, ARL3 +135 more	Deletion	Desmoplastic/nodular medulloblastoma	GPathogenic
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	LOC124416905, LOC124416906 +318 more	Copy number loss	See cases	GPathogenic
Select item 2385827	NM_001394015.1(SH3PXD2A):c.3380A>C (p.Asn1127Thr)	SH3PXD2A (N1004T +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161352	NM_001394015.1(SH3PXD2A):c.3339C>G (p.Ile1113Met)	SH3PXD2A (I980M +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476295	NM_001394015.1(SH3PXD2A):c.3232G>A (p.Val1078Ile)	SH3PXD2A (V1050I +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161351	NM_001394015.1(SH3PXD2A):c.3205A>C (p.Ile1069Leu)	SH3PXD2A (I1069L +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161350	NM_001394015.1(SH3PXD2A):c.3200A>G (p.Gln1067Arg)	SH3PXD2A (Q1039R +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318107	NM_001394015.1(SH3PXD2A):c.3190G>A (p.Glu1064Lys)	SH3PXD2A (E1036K +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569638	NM_001394015.1(SH3PXD2A):c.3163G>A (p.Val1055Met)	SH3PXD2A (V936M +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331745	NM_001394015.1(SH3PXD2A):c.3163G>T (p.Val1055Leu)	SH3PXD2A (V1055L +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161349	NM_001394015.1(SH3PXD2A):c.3143C>T (p.Ala1048Val)	SH3PXD2A (A1020V +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318104	NM_001394015.1(SH3PXD2A):c.3117G>T (p.Gln1039His)	SH3PXD2A (Q916H +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708369	NM_001394015.1(SH3PXD2A):c.3104G>A (p.Arg1035Gln)	SH3PXD2A (R1007Q +9 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2297058	NM_001394015.1(SH3PXD2A):c.3092G>A (p.Arg1031His)	SH3PXD2A (R838H +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288341	NM_001394015.1(SH3PXD2A):c.3077C>T (p.Ala1026Val)	SH3PXD2A (A1026V +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228370	NM_001394015.1(SH3PXD2A):c.3076G>A (p.Ala1026Thr)	SH3PXD2A (A888T +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598957	NM_001394015.1(SH3PXD2A):c.3070G>A (p.Ala1024Thr)	SH3PXD2A (A1024T +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223699	NM_001394015.1(SH3PXD2A):c.3065G>A (p.Arg1022His)	SH3PXD2A (R829H +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720165	NM_001394015.1(SH3PXD2A):c.3064C>T (p.Arg1022Cys)	SH3PXD2A (R903C +9 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 717164	NM_001394015.1(SH3PXD2A):c.3034G>A (p.Val1012Ile)	SH3PXD2A (V893I +9 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3161348	NM_001394015.1(SH3PXD2A):c.2993G>A (p.Arg998Gln)	SH3PXD2A (R879Q +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161347	NM_001394015.1(SH3PXD2A):c.2957C>T (p.Pro986Leu)	SH3PXD2A (P848L +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543523	NM_001394015.1(SH3PXD2A):c.2942C>T (p.Ser981Leu)	SH3PXD2A (S815L +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161346	NM_001394015.1(SH3PXD2A):c.2927C>T (p.Ala976Val)	SH3PXD2A (A838V +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319903	NM_001394015.1(SH3PXD2A):c.2924T>C (p.Val975Ala)	SH3PXD2A (V810A +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161345	NM_001394015.1(SH3PXD2A):c.2904G>A (p.Met968Ile)	SH3PXD2A (M940I +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516298	NM_001394015.1(SH3PXD2A):c.2863G>A (p.Gly955Arg)	SH3PXD2A (G822R +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776537	NM_001394015.1(SH3PXD2A):c.2838G>A (p.Thr946=)	SH3PXD2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3161344	NM_001394015.1(SH3PXD2A):c.2833G>A (p.Ala945Thr)	SH3PXD2A (A945T +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161343	NM_001394015.1(SH3PXD2A):c.2823G>C (p.Gln941His)	SH3PXD2A (Q748H +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351662	NM_001394015.1(SH3PXD2A):c.2788G>A (p.Glu930Lys)	SH3PXD2A (E792K +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161342	NM_001394015.1(SH3PXD2A):c.2758G>A (p.Glu920Lys)	SH3PXD2A (E727K +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161341	NM_001394015.1(SH3PXD2A):c.2729A>G (p.Asp910Gly)	SH3PXD2A (D759G +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672283	NM_001394015.1(SH3PXD2A):c.2683G>A (p.Val895Met)	SH3PXD2A (V702M +9 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2332359	NM_001394015.1(SH3PXD2A):c.2626G>A (p.Gly876Arg)	SH3PXD2A (G753R +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161340	NM_001394015.1(SH3PXD2A):c.2606T>C (p.Val869Ala)	SH3PXD2A (V676A +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161339	NM_001394015.1(SH3PXD2A):c.2591G>C (p.Gly864Ala)	SH3PXD2A (G699A +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318108	NM_001394015.1(SH3PXD2A):c.2587G>A (p.Ala863Thr)	SH3PXD2A (A744T +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388691	NM_001394015.1(SH3PXD2A):c.2425G>A (p.Glu809Lys)	SH3PXD2A (E644K +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524781	NM_001394015.1(SH3PXD2A):c.2375T>A (p.Leu792His)	SH3PXD2A (L654H +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161338	NM_001394015.1(SH3PXD2A):c.2369G>T (p.Gly790Val)	SH3PXD2A (G667V +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369441	NM_001394015.1(SH3PXD2A):c.2366G>A (p.Arg789His)	SH3PXD2A (R651H +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246029	NM_001394015.1(SH3PXD2A):c.2338C>T (p.Arg780Cys)	SH3PXD2A (R587C +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298980	NM_001394015.1(SH3PXD2A):c.2304G>C (p.Gln768His)	SH3PXD2A (Q602H +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608895	NM_001394015.1(SH3PXD2A):c.2291G>A (p.Arg764Gln)	SH3PXD2A (R598Q +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410115	NM_001394015.1(SH3PXD2A):c.2270G>A (p.Arg757Gln)	SH3PXD2A (R624Q +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411016	NM_001394015.1(SH3PXD2A):c.2264C>T (p.Ser755Leu)	SH3PXD2A (S590L +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161337	NM_001394015.1(SH3PXD2A):c.2188G>A (p.Gly730Ser)	SH3PXD2A (G564S +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161336	NM_001394015.1(SH3PXD2A):c.2161C>T (p.Arg721Cys)	SH3PXD2A (R570C +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398653	NM_001394015.1(SH3PXD2A):c.2149G>A (p.Asp717Asn)	SH3PXD2A (D524N +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332448	NM_001394015.1(SH3PXD2A):c.1918G>A (p.Gly640Arg)	SH3PXD2A (G521R +9 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2544232	NM_001394015.1(SH3PXD2A):c.1817G>A (p.Gly606Asp)	SH3PXD2A (G440D +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714516	NM_001394015.1(SH3PXD2A):c.1806C>T (p.Arg602=)	SH3PXD2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2507797	NM_001394015.1(SH3PXD2A):c.1804C>T (p.Arg602Cys)	SH3PXD2A (R451C +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511903	NM_001394015.1(SH3PXD2A):c.1778C>T (p.Ser593Leu)	SH3PXD2A (S442L +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399457	NM_001394015.1(SH3PXD2A):c.1759G>C (p.Ala587Pro)	SH3PXD2A (A421P +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603131	NM_001394015.1(SH3PXD2A):c.1726G>A (p.Val576Met)	SH3PXD2A (V411M +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531052	NM_001394015.1(SH3PXD2A):c.1646G>A (p.Arg549Gln)	SH3PXD2A (R383Q +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480262	NM_001394015.1(SH3PXD2A):c.1513C>T (p.Arg505Cys)	SH3PXD2A (R339C +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161334	NM_001394015.1(SH3PXD2A):c.1501T>C (p.Tyr501His)	SH3PXD2A (Y336H +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318106	NM_001394015.1(SH3PXD2A):c.1474G>A (p.Glu492Lys)	SH3PXD2A (E299K +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596523	NM_001394015.1(SH3PXD2A):c.1409G>A (p.Arg470Gln)	SH3PXD2A (R304Q +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276905	NM_001394015.1(SH3PXD2A):c.1403G>A (p.Ser468Asn)	SH3PXD2A (S468N +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161333	NM_001394015.1(SH3PXD2A):c.1265C>T (p.Pro422Leu)	SH3PXD2A (P284L +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226087	NM_001394015.1(SH3PXD2A):c.1214G>T (p.Gly405Val)	SH3PXD2A (G377V +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161332	NM_001394015.1(SH3PXD2A):c.1180G>A (p.Val394Ile)	SH3PXD2A (V229I +9 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3161331	NM_001394015.1(SH3PXD2A):c.1085C>T (p.Pro362Leu)	SH3PXD2A (P211L +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487772	NM_001394015.1(SH3PXD2A):c.1069G>C (p.Gly357Arg)	SH3PXD2A (G219R +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329433	NM_001394015.1(SH3PXD2A):c.1069G>A (p.Gly357Arg)	SH3PXD2A (G164R +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294640	NM_001394015.1(SH3PXD2A):c.1041C>G (p.Ile347Met)	SH3PXD2A (I228M +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278539	NM_001394015.1(SH3PXD2A):c.978C>A (p.Asp326Glu)	SH3PXD2A (D161E +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318110	NM_001394015.1(SH3PXD2A):c.977A>G (p.Asp326Gly)	SH3PXD2A (D133G +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485059	NM_001394015.1(SH3PXD2A):c.944C>T (p.Ala315Val)	SH3PXD2A (A122V +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161354	NM_001394015.1(SH3PXD2A):c.936G>C (p.Glu312Asp)	SH3PXD2A (E146D +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608446	NM_001394015.1(SH3PXD2A):c.917T>C (p.Ile306Thr)	SH3PXD2A (I141T +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161353	NM_001394015.1(SH3PXD2A):c.704C>T (p.Ser235Phe)	SH3PXD2A (S116F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385063	NM_001394015.1(SH3PXD2A):c.679C>T (p.Arg227Trp)	SH3PXD2A (R227W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539914	NM_001394015.1(SH3PXD2A):c.511T>C (p.Tyr171His)	SH3PXD2A (Y52H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616326	NM_001394015.1(SH3PXD2A):c.490G>A (p.Glu164Lys)	SH3PXD2A (E45K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569520	NM_001394015.1(SH3PXD2A):c.485C>A (p.Thr162Asn)	SH3PXD2A (T162N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2569519	NM_001394015.1(SH3PXD2A):c.481G>A (p.Ala161Thr)	SH3PXD2A (A23T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3318105	NM_001394015.1(SH3PXD2A):c.406G>A (p.Gly136Ser)	SH3PXD2A (G136S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367735	NM_001394015.1(SH3PXD2A):c.317G>A (p.Arg106Gln)	SH3PXD2A (R106Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307028	NM_001394015.1(SH3PXD2A):c.295G>A (p.Glu99Lys)	SH3PXD2A (E99K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523319	NM_001394015.1(SH3PXD2A):c.275A>G (p.Lys92Arg)	SH3PXD2A (K92R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357040	NM_001394015.1(SH3PXD2A):c.265G>A (p.Val89Ile)	SH3PXD2A (V89I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549471	NM_001394015.1(SH3PXD2A):c.260G>A (p.Arg87Gln)	SH3PXD2A (R87Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784165	NM_001394015.1(SH3PXD2A):c.153+8T>G	SH3PXD2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3161335	NM_001394015.1(SH3PXD2A):c.147C>A (p.Asp49Glu)	SH3PXD2A (D49E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607968	NM_001394015.1(SH3PXD2A):c.137A>G (p.Lys46Arg)	SH3PXD2A (K46R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329036	NM_001394015.1(SH3PXD2A):c.86A>G (p.Asn29Ser)	SH3PXD2A (N29S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286157	NM_001394015.1(SH3PXD2A):c.4C>T (p.Leu2Phe)	SH3PXD2A (L2F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	ABCC2, ACTR1A +95 more	Duplication	not provided	GUncertain significance

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