ClinVar for Gene (Select 285590) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246453	NC_000005.9:g.(?_171821547)_(171821663_?)del	SH3PXD2B	Deletion	not provided	GPathogenic
Select item 3246450	NC_000005.9:g.(?_171765373)_(172550225_?)del	ATP6V0E1, CREBRF +6 more	Deletion	not provided	GPathogenic
Select item 3246360	NC_000005.9:g.(?_171765373)_(172662086_?)del	ATP6V0E1, BNIP1 +8 more	Deletion	Atrial septal defect 7	GPathogenic
Select item 3233376	NM_001017995.3(SH3PXD2B):c.280C>G (p.Arg94Gly)	SH3PXD2B (R94G)	Single nucleotide variant (missense variant)	Frank-Ter Haar syndrome	GUncertain significance
Select item 3161368	NM_001017995.3(SH3PXD2B):c.799G>A (p.Glu267Lys)	SH3PXD2B (E267K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161367	NM_001017995.3(SH3PXD2B):c.559T>C (p.Ser187Pro)	SH3PXD2B (S187P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161366	NM_001017995.3(SH3PXD2B):c.391C>G (p.Pro131Ala)	SH3PXD2B (P131A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161365	NM_001017995.3(SH3PXD2B):c.2717A>G (p.Tyr906Cys)	SH3PXD2B (Y906C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3161364	NM_001017995.3(SH3PXD2B):c.2386C>T (p.Arg796Cys)	SH3PXD2B (R796C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3161363	NM_001017995.3(SH3PXD2B):c.2324T>C (p.Leu775Pro)	SH3PXD2B (L775P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3161362	NM_001017995.3(SH3PXD2B):c.2071G>T (p.Gly691Cys)	SH3PXD2B (G691C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3161361	NM_001017995.3(SH3PXD2B):c.2008C>T (p.Leu670Phe)	SH3PXD2B (L670F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3161360	NM_001017995.3(SH3PXD2B):c.1837C>T (p.Arg613Trp)	SH3PXD2B (R613W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3161359	NM_001017995.3(SH3PXD2B):c.1789G>C (p.Glu597Gln)	SH3PXD2B (E597Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3161358	NM_001017995.3(SH3PXD2B):c.1495T>C (p.Ser499Pro)	SH3PXD2B (S499P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3161357	NM_001017995.3(SH3PXD2B):c.1370A>C (p.Asn457Thr)	SH3PXD2B (N457T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3161356	NM_001017995.3(SH3PXD2B):c.1195G>A (p.Glu399Lys)	SH3PXD2B (E399K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3161355	NM_001017995.3(SH3PXD2B):c.1094T>C (p.Ile365Thr)	SH3PXD2B (I365T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057654	NM_001017995.3(SH3PXD2B):c.157-10C>T	SH3PXD2B	Single nucleotide variant (intron variant)	SH3PXD2B-related disorder	GLikely benign
Select item 3036134	NM_001308175.2(SH3PXD2B):c.*8G>C	SH3PXD2B	Single nucleotide variant (3 prime UTR variant)	SH3PXD2B-related disorder	GLikely benign
Select item 3030642	NM_001308175.2(SH3PXD2B):c.1257A>G (p.Ala419=)	SH3PXD2B	Single nucleotide variant (synonymous variant)	SH3PXD2B-related disorder	GLikely benign
Select item 3022319	NM_001017995.3(SH3PXD2B):c.1098G>A (p.Pro366=)	SH3PXD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015505	NM_001017995.3(SH3PXD2B):c.2310G>A (p.Ser770=)	SH3PXD2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3014083	NM_001017995.3(SH3PXD2B):c.1012+14G>A	SH3PXD2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012155	NM_001017995.3(SH3PXD2B):c.310-2A>G	SH3PXD2B	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3005087	NM_001017995.3(SH3PXD2B):c.2079C>T (p.Asp693=)	SH3PXD2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2996597	NM_001017995.3(SH3PXD2B):c.401+13G>T	SH3PXD2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989713	NM_001017995.3(SH3PXD2B):c.1392G>A (p.Thr464=)	SH3PXD2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2980384	NM_001017995.3(SH3PXD2B):c.233-16C>T	SH3PXD2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976516	NM_001017995.3(SH3PXD2B):c.15C>G (p.Arg5=)	SH3PXD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964317	NM_001017995.3(SH3PXD2B):c.37C>T (p.Leu13=)	SH3PXD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959630	NM_001017995.3(SH3PXD2B):c.21C>T (p.Ile7=)	SH3PXD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958382	NM_001017995.3(SH3PXD2B):c.270G>A (p.Val90=)	SH3PXD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956323	NM_001017995.3(SH3PXD2B):c.668-16C>T	SH3PXD2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954694	NM_001017995.3(SH3PXD2B):c.785+19C>G	SH3PXD2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900970	NM_001017995.3(SH3PXD2B):c.1376C>T (p.Thr459Met)	SH3PXD2B (T459M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2898429	NM_001017995.3(SH3PXD2B):c.1986C>T (p.Asp662=)	SH3PXD2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2889770	NM_001017995.3(SH3PXD2B):c.2243A>T (p.Gln748Leu)	SH3PXD2B (Q748L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2882611	NM_001017995.3(SH3PXD2B):c.927G>A (p.Ala309=)	SH3PXD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873548	NM_001017995.3(SH3PXD2B):c.816C>T (p.Ala272=)	SH3PXD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858337	NM_001017995.3(SH3PXD2B):c.498G>A (p.Gln166=)	SH3PXD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2838950	NM_001017995.3(SH3PXD2B):c.945G>A (p.Glu315=)	SH3PXD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835431	NM_001017995.3(SH3PXD2B):c.1936C>T (p.Pro646Ser)	SH3PXD2B (P646S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2825300	NM_001017995.3(SH3PXD2B):c.1401C>T (p.Ser467=)	SH3PXD2B	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2819124	NM_001017995.3(SH3PXD2B):c.2328A>G (p.Pro776=)	SH3PXD2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2816008	NM_001017995.3(SH3PXD2B):c.1149C>T (p.Ile383=)	SH3PXD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812368	NM_001017995.3(SH3PXD2B):c.1923G>A (p.Gln641=)	SH3PXD2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2777238	NM_001017995.3(SH3PXD2B):c.157-4T>G	SH3PXD2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776673	NM_001017995.3(SH3PXD2B):c.2643G>C (p.Lys881Asn)	SH3PXD2B (K881N)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2767278	NM_001017995.3(SH3PXD2B):c.2702G>T (p.Trp901Leu)	SH3PXD2B (W901L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2766531	NM_001017995.3(SH3PXD2B):c.1012+19A>G	SH3PXD2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2731201	NM_001017995.3(SH3PXD2B):c.1939G>C (p.Ala647Pro)	SH3PXD2B (A647P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2718387	NM_001017995.3(SH3PXD2B):c.585C>T (p.Ala195=)	SH3PXD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696180	NM_001017995.3(SH3PXD2B):c.2397C>T (p.Leu799=)	SH3PXD2B	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2685184	GRCh37/hg19 5q35.1-35.2(chr5:171836503-176517734)x1	ARL10, ATP6V0E1 +37 more	Copy number loss	not provided	GPathogenic
Select item 2656078	NM_001017995.3(SH3PXD2B):c.-142_-131dup	SH3PXD2B	Duplication (5 prime UTR variant)	not provided	GBenign
Select item 2607046	NM_001017995.3(SH3PXD2B):c.893T>G (p.Leu298Arg)	SH3PXD2B (L298R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2595473	NM_001017995.3(SH3PXD2B):c.1514C>T (p.Ser505Leu)	SH3PXD2B (S505L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2582086	NM_001017995.3(SH3PXD2B):c.128G>A (p.Arg43Gln)	SH3PXD2B (R43Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2549901	NM_001017995.3(SH3PXD2B):c.2404C>T (p.Pro802Ser)	SH3PXD2B (P802S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541806	NM_001017995.3(SH3PXD2B):c.1229T>C (p.Ile410Thr)	SH3PXD2B (I410T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526939	NM_001017995.3(SH3PXD2B):c.1433T>G (p.Met478Arg)	SH3PXD2B (M478R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522304	NM_001017995.3(SH3PXD2B):c.1637C>T (p.Thr546Met)	SH3PXD2B (T546M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2516165	NM_001017995.3(SH3PXD2B):c.1883A>T (p.Asp628Val)	SH3PXD2B (D628V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2513979	NM_001017995.3(SH3PXD2B):c.2005A>G (p.Lys669Glu)	SH3PXD2B (K669E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487676	NM_001017995.3(SH3PXD2B):c.901G>T (p.Asp301Tyr)	SH3PXD2B (D301Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484270	NM_001017995.3(SH3PXD2B):c.1736A>G (p.Glu579Gly)	SH3PXD2B (E579G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477147	NM_001017995.3(SH3PXD2B):c.908T>G (p.Val303Gly)	SH3PXD2B (V303G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463566	NM_001017995.3(SH3PXD2B):c.506C>T (p.Ser169Leu)	SH3PXD2B (S169L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444015	NM_001017995.3(SH3PXD2B):c.1012+1G>T	SH3PXD2B	Single nucleotide variant (splice donor variant)	Frank-Ter Haar syndrome	GUncertain significance
Select item 2423474	NC_000005.9:g.(?_171765373)_(172939426_?)dup	ATP6V0E1, BNIP1 +9 more	Duplication	not provided	GUncertain significance
Select item 2419915	NM_001017995.3(SH3PXD2B):c.2359G>A (p.Glu787Lys)	SH3PXD2B (E787K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2417265	NM_001017995.3(SH3PXD2B):c.971G>A (p.Arg324Gln)	SH3PXD2B (R324Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416827	NM_001017995.3(SH3PXD2B):c.2322G>A (p.Pro774=)	SH3PXD2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2415540	NM_001017995.3(SH3PXD2B):c.2396_2405dup (p.Lys803fs)	SH3PXD2B (K803fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2407706	NM_001017995.3(SH3PXD2B):c.704G>A (p.Arg235Gln)	SH3PXD2B (R235Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383433	NM_001017995.3(SH3PXD2B):c.2279G>A (p.Arg760His)	SH3PXD2B (R760H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2371423	NM_001017995.3(SH3PXD2B):c.2441G>T (p.Gly814Val)	SH3PXD2B (G814V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361254	NM_001017995.3(SH3PXD2B):c.1421C>T (p.Pro474Leu)	SH3PXD2B (P474L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2345014	NM_001017995.3(SH3PXD2B):c.983G>A (p.Arg328His)	SH3PXD2B (R328H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338211	NM_001017995.3(SH3PXD2B):c.830A>G (p.Lys277Arg)	SH3PXD2B (K277R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335610	NM_001017995.3(SH3PXD2B):c.2182G>A (p.Ala728Thr)	SH3PXD2B (A728T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330068	NM_001017995.3(SH3PXD2B):c.758A>G (p.Lys253Arg)	SH3PXD2B (K253R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304933	NM_001017995.3(SH3PXD2B):c.2119G>A (p.Gly707Ser)	SH3PXD2B (G707S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2303771	NM_001017995.3(SH3PXD2B):c.280C>T (p.Arg94Cys)	SH3PXD2B (R94C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289994	NM_001017995.3(SH3PXD2B):c.2636G>A (p.Arg879Gln)	SH3PXD2B (R879Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278201	NM_001017995.3(SH3PXD2B):c.392C>T (p.Pro131Leu)	SH3PXD2B (P131L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267965	NM_001017995.3(SH3PXD2B):c.849G>T (p.Leu283Phe)	SH3PXD2B (L283F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265887	NM_001017995.3(SH3PXD2B):c.686T>C (p.Ile229Thr)	SH3PXD2B (I229T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254462	NM_001017995.3(SH3PXD2B):c.992C>T (p.Pro331Leu)	SH3PXD2B (P331L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246312	NM_001017995.3(SH3PXD2B):c.980G>A (p.Gly327Asp)	SH3PXD2B (G327D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241653	NM_001017995.3(SH3PXD2B):c.2572G>A (p.Val858Met)	SH3PXD2B (V858M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2238884	NM_001017995.3(SH3PXD2B):c.1264A>G (p.Ile422Val)	SH3PXD2B (I422V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218458	NM_001017995.3(SH3PXD2B):c.2072G>A (p.Gly691Asp)	SH3PXD2B (G691D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2192555	NM_001017995.3(SH3PXD2B):c.2387G>A (p.Arg796His)	SH3PXD2B (R796H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2186726	NM_001017995.3(SH3PXD2B):c.2409del (p.Ala804fs)	SH3PXD2B (A804fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2186123	NM_001017995.3(SH3PXD2B):c.782T>G (p.Ile261Ser)	SH3PXD2B (I261S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181666	NM_001017995.3(SH3PXD2B):c.2545G>A (p.Gly849Ser)	SH3PXD2B (G849S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2150687	NM_001017995.3(SH3PXD2B):c.1622G>A (p.Arg541Gln)	SH3PXD2B (R541Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2148802	NM_001017995.3(SH3PXD2B):c.828GAA[1] (p.Lys277del)	SH3PXD2B (K277del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance

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