ClinVar for Gene (Select 6731) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373618	NM_006947.4(SRP72):c.125A>G (p.Lys42Arg)	SRP72 (K42R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3372687	NM_006947.4(SRP72):c.1127A>T (p.Lys376Met)	SRP72 (K315M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3372211	NM_006947.4(SRP72):c.605C>G (p.Ala202Gly)	SRP72 (A202G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3372208	NM_006947.4(SRP72):c.34C>G (p.Pro12Ala)	LOC129992625, SRP72 (P12A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3371729	NM_006947.4(SRP72):c.796A>C (p.Ile266Leu)	SRP72 (I266L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3371196	NM_006947.4(SRP72):c.732G>C (p.Glu244Asp)	SRP72 (E244D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3370793	NM_006947.4(SRP72):c.1175C>T (p.Ala392Val)	SRP72 (A331V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3370180	NM_006947.4(SRP72):c.1763G>C (p.Gly588Ala)	SRP72 (G527A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369974	NM_006947.4(SRP72):c.1807C>G (p.Gln603Glu)	SRP72 (Q542E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369956	NM_006947.4(SRP72):c.1591C>T (p.Arg531Trp)	SRP72 (R470W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368870	NM_006947.4(SRP72):c.1739T>A (p.Met580Lys)	SRP72 (M519K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367297	NM_006947.4(SRP72):c.435G>C (p.Glu145Asp)	SRP72 (E145D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3366194	NM_006947.4(SRP72):c.811A>G (p.Ile271Val)	SRP72 (I271V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3365349	NM_006947.4(SRP72):c.768-9T>G	SRP72	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3364971	NM_006947.4(SRP72):c.1718A>G (p.Asp573Gly)	SRP72 (D512G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364894	NM_006947.4(SRP72):c.592A>G (p.Ile198Val)	SRP72 (I198V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364714	NM_006947.4(SRP72):c.1760G>A (p.Arg587Gln)	SRP72 (R526Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364501	NM_006947.4(SRP72):c.496C>T (p.Pro166Ser)	SRP72 (P166S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363976	NM_006947.4(SRP72):c.1086G>C (p.Gln362His)	SRP72 (Q301H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363870	NM_006947.4(SRP72):c.2T>C (p.Met1Thr)	LOC129992625, SRP72 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3363752	NM_006947.4(SRP72):c.347G>A (p.Gly116Glu)	SRP72 (G116E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361647	NM_006947.4(SRP72):c.1075G>A (p.Glu359Lys)	SRP72 (E298K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360868	NM_006947.4(SRP72):c.484G>A (p.Glu162Lys)	SRP72 (E162K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360482	NM_006947.4(SRP72):c.1960G>C (p.Ala654Pro)	SRP72 (A593P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360304	NM_006947.4(SRP72):c.1788T>A (p.Asp596Glu)	SRP72 (D535E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360190	NM_006947.4(SRP72):c.-5C>A	SRP72	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3359340	NM_006947.4(SRP72):c.337G>A (p.Glu113Lys)	SRP72 (E113K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3353468	NM_006947.4(SRP72):c.1890T>C (p.Ser630=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	SRP72-related disorder	GLikely benign
Select item 3344726	NM_006947.4(SRP72):c.826-6T>G	SRP72	Single nucleotide variant (intron variant)	SRP72-related disorder	GUncertain significance
Select item 3344472	NM_006947.4(SRP72):c.1838+1G>C	SRP72	Single nucleotide variant (splice donor variant)	SRP72-related disorder	GUncertain significance
Select item 3344212	NM_006947.4(SRP72):c.780G>A (p.Val260=)	SRP72	Single nucleotide variant (synonymous variant +2 more)	SRP72-related disorder	GUncertain significance
Select item 3341439	NM_006947.4(SRP72):c.308G>A (p.Ser103Asn)	SRP72 (S103N)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 3340807	NM_006947.4(SRP72):c.1225G>A (p.Val409Ile)	SRP72 (V348I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3253206	NM_006947.4(SRP72):c.1659G>C (p.Lys553Asn)	SRP72 (K492N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252834	NM_006947.4(SRP72):c.1531A>T (p.Ser511Cys)	SRP72 (S450C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252517	NM_006947.4(SRP72):c.1598A>C (p.Lys533Thr)	SRP72 (K472T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3246747	NC_000004.11:g.(?_57333802)_(57368027_?)del	SRP72	Deletion	not provided	GUncertain significance
Select item 3246588	NC_000004.11:g.(?_55124936)_(57786056_?)del	AASDH, ARL9 +18 more	Deletion	Gastrointestinal stromal tumor	GPathogenic
Select item 3240544	NM_006947.4(SRP72):c.50A>G (p.Glu17Gly)	SRP72 (E17G)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GUncertain significance
Select item 3170034	NM_006947.4(SRP72):c.932C>T (p.Ala311Val)	SRP72 (A250V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170032	NM_006947.4(SRP72):c.619C>T (p.Arg207Cys)	SRP72 (R207C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3170031	NM_006947.4(SRP72):c.501G>C (p.Glu167Asp)	SRP72 (E167D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170030	NM_006947.4(SRP72):c.1529A>G (p.Asp510Gly)	SRP72 (D510G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170029	NM_006947.4(SRP72):c.1445A>C (p.His482Pro)	SRP72 (H482P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170028	NM_006947.4(SRP72):c.1399A>T (p.Ile467Phe)	SRP72 (I406F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3051459	NM_006947.4(SRP72):c.610+9T>A	SRP72	Single nucleotide variant (intron variant)	SRP72-related disorder	GLikely benign
Select item 3050893	NM_006947.4(SRP72):c.1620T>C (p.Asp540=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	SRP72-related disorder	GLikely benign
Select item 3050359	NM_006947.4(SRP72):c.9C>T (p.Ser3=)	LOC129992625, SRP72	Single nucleotide variant (synonymous variant +1 more)	SRP72-related disorder	GLikely benign
Select item 3048608	NM_006947.4(SRP72):c.1272T>C (p.Ser424=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	SRP72-related disorder	GLikely benign
Select item 3032419	NM_006947.4(SRP72):c.1515C>T (p.His505=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	SRP72-related disorder	GLikely benign
Select item 3031599	NM_006947.4(SRP72):c.230+10T>G	SRP72	Single nucleotide variant (intron variant)	SRP72-related disorder	GLikely benign
Select item 3029824	NM_006947.4(SRP72):c.611-4G>A	SRP72	Single nucleotide variant (intron variant)	SRP72-related disorder	GLikely benign
Select item 3029065	NM_006947.4(SRP72):c.541A>G (p.Asn181Asp)	SRP72 (N181D)	Single nucleotide variant (missense variant +1 more)	SRP72-related disorder	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 3021979	NM_006947.4(SRP72):c.825+14del	SRP72	Deletion (intron variant)	not provided	GLikely benign
Select item 3019134	NM_006947.4(SRP72):c.1345T>G (p.Leu449Val)	SRP72 (L388V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3018979	NM_006947.4(SRP72):c.41T>C (p.Leu14Pro)	SRP72 (L14P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3011896	NC_000004.12:g.56491432_56491437del	SRP72	Deletion	not provided	GUncertain significance
Select item 3011893	NM_006947.4(SRP72):c.1471T>C (p.Tyr491His)	SRP72 (Y430H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3008056	NM_006947.4(SRP72):c.1296T>C (p.Ala432=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3007423	NM_006947.4(SRP72):c.1502+1G>A	SRP72	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3007050	NM_006947.4(SRP72):c.1424+14C>G	SRP72	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3006517	NM_006947.4(SRP72):c.724A>G (p.Thr242Ala)	SRP72 (T242A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3006104	NM_006947.4(SRP72):c.1924A>T (p.Ile642Leu)	SRP72 (I642L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3003881	NM_006947.4(SRP72):c.288T>A (p.Asn96Lys)	SRP72 (N96K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3002912	NM_006947.4(SRP72):c.1159+20G>A	SRP72	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001044	NM_006947.4(SRP72):c.87C>T (p.Arg29=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2998500	NM_006947.4(SRP72):c.399A>G (p.Arg133=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2996467	NM_006947.4(SRP72):c.943A>G (p.Met315Val)	SRP72 (M254V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2991582	NM_006947.4(SRP72):c.607G>A (p.Glu203Lys)	SRP72 (E203K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2990736	NM_006947.4(SRP72):c.1425-3T>C	SRP72	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2990618	NM_006947.4(SRP72):c.1839-11G>C	SRP72	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986194	NM_006947.4(SRP72):c.498+10C>A	SRP72	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986120	NM_006947.4(SRP72):c.367G>T (p.Glu123Ter)	SRP72 (E123*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2986111	NM_006947.4(SRP72):c.1870A>G (p.Thr624Ala)	SRP72 (T563A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2985931	NM_006947.4(SRP72):c.978A>G (p.Ile326Met)	SRP72 (I265M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2985032	NM_006947.4(SRP72):c.556C>G (p.Leu186Val)	SRP72 (L186V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2980790	NM_006947.4(SRP72):c.241dup (p.Ser81fs)	SRP72 (S81fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2980555	NM_006947.4(SRP72):c.25G>T (p.Val9Leu)	LOC129992625, SRP72 (V9L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2979747	NM_006947.4(SRP72):c.405C>T (p.Leu135=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2977461	NM_006947.4(SRP72):c.921A>T (p.Glu307Asp)	SRP72 (E307D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2976635	NM_006947.4(SRP72):c.1739T>C (p.Met580Thr)	SRP72 (M519T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2975353	NM_006947.4(SRP72):c.230+17G>A	SRP72	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974701	NM_006947.4(SRP72):c.222G>A (p.Val74=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2972402	NM_006947.4(SRP72):c.321G>A (p.Gln107=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2970638	NM_006947.4(SRP72):c.912A>G (p.Gln304=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2970283	NM_006947.4(SRP72):c.385T>C (p.Leu129=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2962960	NM_006947.4(SRP72):c.974A>G (p.Lys325Arg)	SRP72 (K325R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2959246	NM_006947.4(SRP72):c.1678+8A>G	SRP72	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958831	NM_006947.4(SRP72):c.1330C>T (p.Pro444Ser)	SRP72 (P444S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2957792	NM_006947.4(SRP72):c.231-19T>G	SRP72	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956055	NM_006947.4(SRP72):c.1159+6A>G	SRP72	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2914797	NM_006947.4(SRP72):c.539A>G (p.Tyr180Cys)	SRP72 (Y180C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2907661	NM_006947.4(SRP72):c.1449C>T (p.Thr483=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2899563	NM_006947.4(SRP72):c.278G>A (p.Arg93Lys)	SRP72 (R93K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2892987	NM_006947.4(SRP72):c.1307A>T (p.Tyr436Phe)	SRP72 (Y375F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2892691	NM_006947.4(SRP72):c.617G>T (p.Cys206Phe)	SRP72 (C206F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2892593	NM_006947.4(SRP72):c.621C>A (p.Arg207=)	SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2891770	NM_006947.4(SRP72):c.24G>T (p.Gly8=)	LOC129992625, SRP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2886199	NM_006947.4(SRP72):c.1399A>G (p.Ile467Val)	SRP72 (I406V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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