SEC23IP[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 117

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 57088	GRCh38/hg38 10q26.11-26.13(chr10:119273012-123117390)x3	FGFR2, GRK5 +119 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 2327386	NM_007190.4(SEC23IP):c.10A>G (p.Arg4Gly)	SEC23IP (R4G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159258	NM_007190.4(SEC23IP):c.23G>C (p.Gly8Ala)	SEC23IP (G8A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317106	NM_007190.4(SEC23IP):c.32G>A (p.Gly11Asp)	SEC23IP (G11D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357817	NM_007190.4(SEC23IP):c.80C>T (p.Ser27Leu)	SEC23IP (S27L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621505	NM_007190.4(SEC23IP):c.86C>T (p.Thr29Met)	SEC23IP (T29M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375510	NM_007190.4(SEC23IP):c.101A>G (p.Asn34Ser)	SEC23IP (N34S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780914	NM_007190.4(SEC23IP):c.133G>A (p.Ala45Thr)	SEC23IP (A45T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 719744	NM_007190.4(SEC23IP):c.148C>T (p.Leu50=)	SEC23IP	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3159256	NM_007190.4(SEC23IP):c.224C>T (p.Ser75Phe)	SEC23IP (S75F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782536	NM_007190.4(SEC23IP):c.330A>G (p.Gln110=)	SEC23IP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3036226	NM_007190.4(SEC23IP):c.342C>T (p.Pro114=)	SEC23IP	Single nucleotide variant (synonymous variant)	SEC23IP-related disorder	GLikely benign
Select item 2622071	NM_007190.4(SEC23IP):c.343A>G (p.Lys115Glu)	SEC23IP (K115E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372706	NM_007190.4(SEC23IP):c.413C>T (p.Ser138Leu)	SEC23IP (S138L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269325	NM_007190.4(SEC23IP):c.423A>T (p.Gln141His)	SEC23IP (Q141H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304450	NM_007190.4(SEC23IP):c.448A>G (p.Met150Val)	SEC23IP (M150V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228588	NM_007190.4(SEC23IP):c.513A>T (p.Gln171His)	SEC23IP (Q171H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215957	NM_007190.4(SEC23IP):c.550C>T (p.Arg184Cys)	SEC23IP (R184C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206680	NM_007190.4(SEC23IP):c.590C>T (p.Ala197Val)	SEC23IP (A197V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771886	NM_007190.4(SEC23IP):c.625C>T (p.Pro209Ser)	SEC23IP (P209S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2351261	NM_007190.4(SEC23IP):c.679C>G (p.Pro227Ala)	SEC23IP (P227A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159261	NM_007190.4(SEC23IP):c.692C>G (p.Pro231Arg)	SEC23IP (P231R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411262	NM_007190.4(SEC23IP):c.695C>T (p.Pro232Leu)	SEC23IP (P232L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539070	NM_007190.4(SEC23IP):c.739G>T (p.Ala247Ser)	SEC23IP (A247S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368546	NM_007190.4(SEC23IP):c.799G>A (p.Glu267Lys)	SEC23IP (E267K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3046351	NM_007190.4(SEC23IP):c.808C>T (p.Gln270Ter)	SEC23IP (Q270*)	Single nucleotide variant (nonsense +1 more)	SEC23IP-related disorder	GUncertain significance
Select item 3044355	NM_007190.4(SEC23IP):c.900T>A (p.Tyr300Ter)	SEC23IP (Y300*)	Single nucleotide variant (nonsense +1 more)	SEC23IP-related disorder	GUncertain significance
Select item 3159262	NM_007190.4(SEC23IP):c.931G>A (p.Val311Ile)	SEC23IP (V311I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159263	NM_007190.4(SEC23IP):c.977G>A (p.Arg326Gln)	SEC23IP (R326Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159264	NM_007190.4(SEC23IP):c.985A>C (p.Lys329Gln)	SEC23IP (K329Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317102	NM_007190.4(SEC23IP):c.1013C>T (p.Ala338Val)	SEC23IP (A338V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3053192	NM_007190.4(SEC23IP):c.1102-7A>C	SEC23IP	Single nucleotide variant (intron variant)	SEC23IP-related disorder	GLikely benign
Select item 789612	NM_007190.4(SEC23IP):c.1102-5T>A	SEC23IP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3034390	NM_007190.4(SEC23IP):c.1237A>G (p.Thr413Ala)	SEC23IP (T413A)	Single nucleotide variant (missense variant +1 more)	SEC23IP-related disorder	GLikely benign
Select item 3049228	NM_007190.4(SEC23IP):c.1241C>T (p.Thr414Met)	SEC23IP (T414M)	Single nucleotide variant (missense variant +1 more)	SEC23IP-related disorder	GLikely benign
Select item 759695	NM_007190.4(SEC23IP):c.1269T>A (p.Val423=)	SEC23IP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3055672	NM_007190.4(SEC23IP):c.1287T>C (p.Asp429=)	SEC23IP	Single nucleotide variant (synonymous variant +1 more)	SEC23IP-related disorder	GBenign
Select item 3049764	NM_007190.4(SEC23IP):c.1312+3G>A	SEC23IP	Single nucleotide variant (intron variant)	SEC23IP-related disorder	GLikely benign
Select item 2332162	NM_007190.4(SEC23IP):c.1363C>T (p.Pro455Ser)	SEC23IP (P455S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317103	NM_007190.4(SEC23IP):c.1379G>A (p.Arg460His)	SEC23IP (R460H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3042411	NM_007190.4(SEC23IP):c.1403-9C>A	SEC23IP	Single nucleotide variant (intron variant)	SEC23IP-related disorder	GBenign
Select item 723079	NM_007190.4(SEC23IP):c.1467C>T (p.Asp489=)	SEC23IP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3052952	NM_007190.4(SEC23IP):c.1519G>T (p.Gly507Cys)	SEC23IP (G507C)	Single nucleotide variant (missense variant +1 more)	SEC23IP-related disorder	GLikely benign
Select item 2283608	NM_007190.4(SEC23IP):c.1519G>A (p.Gly507Ser)	SEC23IP (G507S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317105	NM_007190.4(SEC23IP):c.1531A>G (p.Thr511Ala)	SEC23IP (T511A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474886	NM_007190.4(SEC23IP):c.1535G>A (p.Gly512Asp)	SEC23IP (G512D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159253	NM_007190.4(SEC23IP):c.1577G>T (p.Gly526Val)	SEC23IP (G526V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159254	NM_007190.4(SEC23IP):c.1580G>A (p.Arg527Gln)	SEC23IP (R527Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317104	NM_007190.4(SEC23IP):c.1634C>A (p.Pro545His)	SEC23IP (P545H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495704	NM_007190.4(SEC23IP):c.1654G>A (p.Val552Met)	SEC23IP (V552M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3046388	NM_007190.4(SEC23IP):c.1836T>C (p.Asn612=)	SEC23IP	Single nucleotide variant (synonymous variant +1 more)	SEC23IP-related disorder	GLikely benign
Select item 3159255	NM_007190.4(SEC23IP):c.1874T>C (p.Met625Thr)	SEC23IP (M625T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486634	NM_007190.4(SEC23IP):c.1876C>A (p.Pro626Thr)	SEC23IP (P626T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3039499	NM_007190.4(SEC23IP):c.1912G>C (p.Asp638His)	SEC23IP (D638H)	Single nucleotide variant (missense variant +1 more)	SEC23IP-related disorder	GBenign
Select item 3059313	NM_007190.4(SEC23IP):c.1930A>G (p.Lys644Glu)	SEC23IP (K644E)	Single nucleotide variant (missense variant +1 more)	SEC23IP-related disorder	GBenign
Select item 2601830	NM_007190.4(SEC23IP):c.2018A>G (p.Glu673Gly)	SEC23IP (E673G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055417	NM_007190.4(SEC23IP):c.2133G>A (p.Ala711=)	SEC23IP	Single nucleotide variant (synonymous variant +1 more)	SEC23IP-related disorder	GBenign
Select item 732120	NM_007190.4(SEC23IP):c.2153C>T (p.Ala718Val)	SEC23IP (A718V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2514293	NM_007190.4(SEC23IP):c.2227A>G (p.Asn743Asp)	SEC23IP (N743D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392490	NM_007190.4(SEC23IP):c.2228A>G (p.Asn743Ser)	SEC23IP (N743S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317101	NM_007190.4(SEC23IP):c.2239A>G (p.Arg747Gly)	SEC23IP (R747G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360529	NM_007190.4(SEC23IP):c.2308G>A (p.Gly770Arg)	SEC23IP (G770R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056185	NM_007190.4(SEC23IP):c.2313+10C>T	SEC23IP	Single nucleotide variant (intron variant)	SEC23IP-related disorder	GBenign
Select item 3159257	NM_007190.4(SEC23IP):c.2377A>C (p.Ile793Leu)	SEC23IP (I793L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342912	NM_007190.4(SEC23IP):c.2383A>G (p.Met795Val)	SEC23IP (M795V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049274	NM_007190.4(SEC23IP):c.2427C>T (p.Tyr809=)	SEC23IP	Single nucleotide variant (synonymous variant +1 more)	SEC23IP-related disorder	GLikely benign
Select item 2203857	NM_007190.4(SEC23IP):c.2468C>T (p.Pro823Leu)	SEC23IP (P823L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 794190	NM_007190.4(SEC23IP):c.2484A>G (p.Ala828=)	SEC23IP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3317099	NM_007190.4(SEC23IP):c.2574A>T (p.Glu858Asp)	SEC23IP (E858D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513370	NM_007190.4(SEC23IP):c.2669G>A (p.Arg890His)	SEC23IP (R890H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159259	NM_007190.4(SEC23IP):c.2677A>G (p.Thr893Ala)	SEC23IP (T893A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317509	NM_007190.4(SEC23IP):c.2733A>T (p.Glu911Asp)	SEC23IP (E911D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232389	NM_007190.4(SEC23IP):c.2779C>T (p.Pro927Ser)	SEC23IP (P926S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403601	NM_007190.4(SEC23IP):c.2807T>C (p.Leu936Ser)	SEC23IP (L935S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481332	NM_007190.4(SEC23IP):c.2824T>A (p.Leu942Ile)	SEC23IP (L942I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317100	NM_007190.4(SEC23IP):c.2836C>T (p.Arg946Cys)	SEC23IP (R946C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301742	NM_007190.4(SEC23IP):c.2842A>G (p.Ile948Val)	SEC23IP (I948V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3035255	NM_007190.4(SEC23IP):c.2922-4A>T	SEC23IP	Single nucleotide variant (intron variant)	SEC23IP-related disorder	GBenign
Select item 2538813	NM_007190.4(SEC23IP):c.2966G>A (p.Arg989Gln)	SEC23IP (R988Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056457	NM_007190.4(SEC23IP):c.2970A>G (p.Thr990=)	SEC23IP	Single nucleotide variant (synonymous variant +1 more)	SEC23IP-related disorder	GBenign
Select item 3159260	NM_007190.4(SEC23IP):c.2974A>G (p.Asn992Asp)	SEC23IP (N991D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640882	NM_007190.4(SEC23IP):c.3000T>C (p.His1000=)	SEC23IP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	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 1808316	GRCh37/hg19 10q26.11-26.12(chr10:121307376-121700959)x3	BAG3, INPP5F +3 more	Copy number gain	not provided	GUncertain significance
Select item 1527607	GRCh37/hg19 10q26.11-26.13(chr10:120782191-123155522)	BAG3, DENND10 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1527606	GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066)	ACADSB, ARMS2 +54 more	Copy number loss	not specified	GPathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1330213	GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1	CACUL1, PLPP4 +22 more	Copy number loss	Astigmatism +4 more	GUncertain significance

<< First< Prev

Page of 2