SH3D19[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 57896	GRCh38/hg38 4q31.3(chr4:150703713-151282758)x3	LOC108281188, LOC121056744 +13 more	Copy number gain	See cases	GUncertain significance
Select item 3318070	NM_001378122.1(SH3D19):c.3106T>G (p.Phe1036Val)	SH3D19 (F1000V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318071	NM_001378122.1(SH3D19):c.3040A>G (p.Ile1014Val)	SH3D19 (I955V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318067	NM_001378122.1(SH3D19):c.2849G>C (p.Arg950Pro)	SH3D19 (R693P +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588357	NM_001378122.1(SH3D19):c.2825G>C (p.Gly942Ala)	SH3D19 (G662A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410874	NM_001378122.1(SH3D19):c.2816T>C (p.Phe939Ser)	SH3D19 (F682S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057905	NM_001378122.1(SH3D19):c.2657A>T (p.Glu886Val)	SH3D19 (E570V +6 more)	Single nucleotide variant (missense variant)	SH3D19-related disorder	GLikely benign
Select item 3318069	NM_001378122.1(SH3D19):c.2654T>C (p.Val885Ala)	SH3D19 (V605A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409541	NM_001378122.1(SH3D19):c.2612G>A (p.Arg871Gln)	SH3D19 (R555Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328810	NM_001378122.1(SH3D19):c.2569C>A (p.Leu857Ile)	SH3D19 (L541I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336438	NM_001378122.1(SH3D19):c.2516A>G (p.Tyr839Cys)	SH3D19 (Y780C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481516	NM_001378122.1(SH3D19):c.2507G>C (p.Arg836Pro)	SH3D19 (R579P +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592440	NM_001378122.1(SH3D19):c.2498G>A (p.Cys833Tyr)	SH3D19 (C576Y +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207330	NM_001378122.1(SH3D19):c.2401T>C (p.Phe801Leu)	SH3D19 (F824L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493830	NM_001378122.1(SH3D19):c.2398A>G (p.Ile800Val)	SH3D19 (I764V +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2540300	NM_001378122.1(SH3D19):c.2258G>A (p.Gly753Asp)	SH3D19 (G694D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328809	NM_001378122.1(SH3D19):c.2236G>T (p.Ala746Ser)	SH3D19 (A466S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220758	NM_001378122.1(SH3D19):c.2114C>T (p.Thr705Met)	SH3D19 (T705M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034592	NM_001378122.1(SH3D19):c.2083C>T (p.Arg695Cys)	SH3D19 (R379C +6 more)	Single nucleotide variant (missense variant)	SH3D19-related disorder	GLikely benign
Select item 2402618	NM_001378122.1(SH3D19):c.2083-190C>T	SH3D19 (P652S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3035121	NM_001378122.1(SH3D19):c.2083-245G>A	SH3D19	Single nucleotide variant (intron variant)	SH3D19-related disorder	GLikely benign
Select item 153317	GRCh38/hg38 4q31.3(chr4:151144531-151643648)x1	FHIP1A, FHIP1A-DT +4 more	Copy number loss	See cases	GLikely benign
Select item 3037228	NM_001378122.1(SH3D19):c.2081T>C (p.Met694Thr)	SH3D19 (M378T +3 more)	Single nucleotide variant (missense variant)	SH3D19-related disorder	GBenign
Select item 2614012	NM_001378122.1(SH3D19):c.2081T>A (p.Met694Lys)	SH3D19 (M378K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056922	NM_001378122.1(SH3D19):c.2066T>C (p.Leu689Pro)	SH3D19 (L373P +3 more)	Single nucleotide variant (missense variant)	SH3D19-related disorder	GBenign
Select item 2371789	NM_001378122.1(SH3D19):c.2047C>T (p.Pro683Ser)	SH3D19 (P367S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297556	NM_001378122.1(SH3D19):c.2045G>A (p.Arg682His)	SH3D19 (R682H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161283	NM_001378122.1(SH3D19):c.2033T>A (p.Val678Glu)	SH3D19 (V362E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053221	NM_001378122.1(SH3D19):c.2031G>A (p.Pro677=)	SH3D19	Single nucleotide variant (synonymous variant)	SH3D19-related disorder	GLikely benign
Select item 2240986	NM_001378122.1(SH3D19):c.2012T>G (p.Val671Gly)	SH3D19 (V391G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033023	NM_001378122.1(SH3D19):c.1937G>A (p.Arg646Gln)	SH3D19 (R330Q +3 more)	Single nucleotide variant (missense variant)	SH3D19-related disorder	GLikely benign
Select item 2262968	NM_001378122.1(SH3D19):c.1888C>T (p.Pro630Ser)	SH3D19 (P314S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298797	NM_001378122.1(SH3D19):c.1847A>C (p.Gln616Pro)	SH3D19 (Q557P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161290	NM_001378122.1(SH3D19):c.1793G>A (p.Arg598Gln)	SH3D19 (R318Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318072	NM_001378122.1(SH3D19):c.1675C>T (p.Leu559Phe)	SH3D19 (L279F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550910	NM_001378122.1(SH3D19):c.1582G>T (p.Val528Phe)	SH3D19 (V469F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049474	NM_001378122.1(SH3D19):c.1534+9A>G	SH3D19	Single nucleotide variant (intron variant)	SH3D19-related disorder	GBenign
Select item 3161288	NM_001378122.1(SH3D19):c.1412C>G (p.Pro471Arg)	SH3D19 (P471R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612575	NM_001378122.1(SH3D19):c.1355G>T (p.Gly452Val)	SH3D19 (G393V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3161287	NM_001378122.1(SH3D19):c.1351G>A (p.Ala451Thr)	SH3D19 (A171T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161286	NM_001378122.1(SH3D19):c.1346G>C (p.Arg449Pro)	SH3D19 (R390P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037415	NM_001378122.1(SH3D19):c.1343C>T (p.Pro448Leu)	SH3D19 (P168L +2 more)	Single nucleotide variant (missense variant)	SH3D19-related disorder	GLikely benign
Select item 2618304	NM_001378122.1(SH3D19):c.1328C>T (p.Pro443Leu)	SH3D19 (P163L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518794	NM_001378122.1(SH3D19):c.1259C>T (p.Pro420Leu)	SH3D19 (P420L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389729	NM_001378122.1(SH3D19):c.1259C>G (p.Pro420Arg)	SH3D19 (P140R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161285	NM_001378122.1(SH3D19):c.1255G>A (p.Ala419Thr)	SH3D19 (A360T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388804	NM_001378122.1(SH3D19):c.1246C>T (p.Pro416Ser)	SH3D19 (P357S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290246	NM_001378122.1(SH3D19):c.1243G>T (p.Val415Leu)	SH3D19 (V356L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307737	NM_001378122.1(SH3D19):c.1217C>T (p.Ala406Val)	SH3D19 (A347V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402880	NM_001378122.1(SH3D19):c.1211C>T (p.Pro404Leu)	SH3D19 (P124L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547692	NM_001378122.1(SH3D19):c.1210C>T (p.Pro404Ser)	SH3D19 (P124S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555360	NM_001378122.1(SH3D19):c.1207G>T (p.Gly403Trp)	SH3D19 (G344W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334834	NM_001378122.1(SH3D19):c.1207G>C (p.Gly403Arg)	SH3D19 (G123R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225540	NM_001378122.1(SH3D19):c.1205G>C (p.Arg402Thr)	SH3D19 (R122T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655124	NM_001378122.1(SH3D19):c.1176A>G (p.Ile392Met)	SH3D19 (I112M +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2241368	NM_001378122.1(SH3D19):c.1118C>T (p.Ala373Val)	SH3D19 (A93V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161284	NM_001378122.1(SH3D19):c.979A>G (p.Thr327Ala)	SH3D19 (T327A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369196	NM_001378122.1(SH3D19):c.959G>A (p.Arg320His)	SH3D19 (R40H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460582	NM_001378122.1(SH3D19):c.958C>T (p.Arg320Cys)	SH3D19 (R261C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551949	NM_001378122.1(SH3D19):c.939G>T (p.Lys313Asn)	SH3D19 (K33N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161289	NM_001378122.1(SH3D19):c.847A>G (p.Ile283Val)	SH3D19 (I283V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541260	NM_183375.5(PRSS48):c.79C>T (p.Arg27Cys)	PRSS48, SH3D19 (R27C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310709	NM_183375.5(PRSS48):c.82G>A (p.Val28Ile)	PRSS48, SH3D19 (V28I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3219886	NM_183375.5(PRSS48):c.118C>A (p.Pro40Thr)	PRSS48, SH3D19 (P40T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1184861	NM_183375.5(PRSS48):c.127_131del (p.Val43fs)	PRSS48, SH3D19 (V43fs)	Deletion (frameshift variant +1 more)	Essential tremor	GUncertain significance
Select item 2226482	NM_183375.5(PRSS48):c.125A>T (p.Gln42Leu)	PRSS48, SH3D19 (Q42L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307899	NM_183375.5(PRSS48):c.163G>C (p.Gly55Arg)	PRSS48, SH3D19 (G55R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310710	NM_183375.5(PRSS48):c.203A>G (p.His68Arg)	PRSS48, SH3D19 (H68R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460423	NM_183375.5(PRSS48):c.254C>T (p.Ser85Leu)	PRSS48, SH3D19 (S85L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263528	NM_183375.5(PRSS48):c.283G>A (p.Val95Met)	PRSS48, SH3D19 (V95M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295368	NM_183375.5(PRSS48):c.293A>G (p.Tyr98Cys)	PRSS48, SH3D19 (Y98C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219887	NM_183375.5(PRSS48):c.343G>A (p.Val115Ile)	PRSS48, SH3D19 (V115I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3219888	NM_183375.5(PRSS48):c.354G>T (p.Leu118Phe)	PRSS48, SH3D19 (L118F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595660	NM_183375.5(PRSS48):c.400T>C (p.Cys134Arg)	PRSS48, SH3D19 (C134R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219889	NM_183375.5(PRSS48):c.454G>A (p.Gly152Arg)	PRSS48, SH3D19 (G152R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381913	NM_183375.5(PRSS48):c.473A>G (p.Glu158Gly)	PRSS48, SH3D19 (E158G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539128	NM_183375.5(PRSS48):c.503T>C (p.Leu168Pro)	PRSS48, SH3D19 (L168P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239553	NM_183375.5(PRSS48):c.511G>A (p.Ala171Thr)	PRSS48, SH3D19 (A171T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219890	NM_183375.5(PRSS48):c.532C>T (p.Arg178Cys)	PRSS48, SH3D19 (R178C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407556	NM_183375.5(PRSS48):c.533G>A (p.Arg178His)	PRSS48, SH3D19 (R178H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2511290	NM_183375.5(PRSS48):c.539C>G (p.Ala180Gly)	PRSS48, SH3D19 (A180G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310708	NM_183375.5(PRSS48):c.575T>C (p.Leu192Ser)	PRSS48, SH3D19 (L192S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374005	NM_183375.5(PRSS48):c.596T>C (p.Ile199Thr)	PRSS48, SH3D19 (I199T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219891	NM_183375.5(PRSS48):c.599A>G (p.Lys200Arg)	PRSS48, SH3D19 (K200R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219892	NM_183375.5(PRSS48):c.762T>A (p.Asn254Lys)	PRSS48, SH3D19 (N254K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310712	NM_183375.5(PRSS48):c.837C>A (p.Phe279Leu)	PRSS48, SH3D19 (F279L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2376610	NM_183375.5(PRSS48):c.844G>A (p.Val282Ile)	PRSS48, SH3D19 (V282I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219894	NM_183375.5(PRSS48):c.928G>A (p.Val310Ile)	PRSS48, SH3D19 (V310I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310711	NM_183375.5(PRSS48):c.938T>C (p.Ile313Thr)	PRSS48, SH3D19 (I313T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 146396	GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1	ARFIP1, ASIC5 +210 more	Copy number loss	See cases	GLikely pathogenic
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic

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