ClinVar for MedGen (Select 934694) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377426	NM_138459.5(NUS1):c.51T>A (p.Cys17Ter)	NUS1 (C17*)	Single nucleotide variant (nonsense)	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 3246047	NC_000006.11:g.(?_117996834)_(118028178_?)del	NUS1	Deletion	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 3020272	NM_138459.5(NUS1):c.385A>G (p.Ile129Val)	NUS1 (I129V)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 3018922	NM_138459.5(NUS1):c.390C>T (p.Ser130=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 3014693	NM_138459.5(NUS1):c.57C>G (p.His19Gln)	NUS1 (H19Q)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 3010076	NM_138459.5(NUS1):c.274C>G (p.Arg92Gly)	NUS1 (R92G)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 3008210	NM_138459.5(NUS1):c.598A>G (p.Ile200Val)	NUS1 (I200V)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 3006207	NM_138459.5(NUS1):c.354G>A (p.Ala118=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 3003501	NM_138459.5(NUS1):c.788T>C (p.Ile263Thr)	NUS1 (I263T)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 3000443	NM_138459.5(NUS1):c.475C>T (p.Leu159Phe)	NUS1 (L159F)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2998938	NM_138459.5(NUS1):c.225G>C (p.Gly75=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2997160	NM_138459.5(NUS1):c.681C>G (p.Ala227=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2990261	NM_138459.5(NUS1):c.351C>T (p.Ile117=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2985751	NM_138459.5(NUS1):c.76C>T (p.Leu26Phe)	NUS1 (L26F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2983488	NM_138459.5(NUS1):c.94A>G (p.Thr32Ala)	NUS1 (T32A)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2980468	NM_138459.5(NUS1):c.302T>C (p.Met101Thr)	NUS1 (M101T)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2974548	NM_138459.5(NUS1):c.313A>G (p.Ile105Val)	NUS1 (I105V)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2974224	NM_138459.5(NUS1):c.226T>G (p.Ser76Ala)	NUS1 (S76A)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2970617	NM_138459.5(NUS1):c.254T>A (p.Met85Lys)	NUS1 (M85K)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2955928	NM_138459.5(NUS1):c.646A>G (p.Lys216Glu)	NUS1 (K216E)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2919478	NM_138459.5(NUS1):c.57C>T (p.His19=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2918879	NM_138459.5(NUS1):c.243A>G (p.Ala81=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2913686	NM_138459.5(NUS1):c.178C>T (p.Pro60Ser)	NUS1 (P60S)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2913541	NM_138459.5(NUS1):c.216G>A (p.Pro72=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2910851	NM_138459.5(NUS1):c.519T>C (p.Asn173=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2909911	NM_138459.5(NUS1):c.844C>G (p.Arg282Gly)	NUS1 (R282G)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2906610	NM_138459.5(NUS1):c.679G>C (p.Ala227Pro)	NUS1 (A227P)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2901192	NM_138459.5(NUS1):c.45G>T (p.Leu15=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2896247	NM_138459.5(NUS1):c.236C>T (p.Ala79Val)	NUS1 (A79V)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2892375	NM_138459.5(NUS1):c.304G>A (p.Gly102Ser)	NUS1 (G102S)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2889854	NM_138459.5(NUS1):c.124C>T (p.Arg42Cys)	NUS1 (R42C)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2882251	NM_138459.5(NUS1):c.240C>A (p.Ala80=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2880871	NM_138459.5(NUS1):c.277T>G (p.Ser93Ala)	NUS1 (S93A)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2878229	NM_138459.5(NUS1):c.231C>T (p.Cys77=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2876501	NM_138459.5(NUS1):c.291G>A (p.Leu97=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2866417	NM_138459.5(NUS1):c.756C>T (p.Gly252=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2866116	NM_138459.5(NUS1):c.119_132dup (p.Ser45fs)	NUS1 (S45fs)	Duplication (frameshift variant)	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 2860526	NM_138459.5(NUS1):c.94_101del (p.Thr32fs)	NUS1 (T32fs)	Deletion (frameshift variant)	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 2852858	NM_138459.5(NUS1):c.225del (p.Ser76fs)	NUS1 (S76fs)	Deletion (frameshift variant)	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 2851556	NM_138459.5(NUS1):c.110G>A (p.Trp37Ter)	NUS1 (W37*)	Single nucleotide variant (nonsense)	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 2851443	NM_138459.5(NUS1):c.415+2T>G	NUS1	Single nucleotide variant (splice donor variant)	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 2848273	NM_138459.5(NUS1):c.684T>A (p.Ser228Arg)	NUS1 (S228R)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2844281	NM_138459.5(NUS1):c.-118_159del (p.Met1fs)	NUS1 (M1fs)	Deletion (frameshift variant +1 more)	Congenital disorder of glycosylation, type IAA	GLikely pathogenic
Select item 2842703	NM_138459.5(NUS1):c.867G>A (p.Gln289=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2838328	NM_138459.5(NUS1):c.368_372del (p.Trp123fs)	NUS1 (W123fs)	Microsatellite (frameshift variant)	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 2837170	NM_138459.5(NUS1):c.336C>T (p.Pro112=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2836743	NM_138459.5(NUS1):c.500A>G (p.Tyr167Cys)	NUS1 (Y167C)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2832918	NM_138459.5(NUS1):c.521G>A (p.Ser174Asn)	NUS1 (S174N)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2830593	NM_138459.5(NUS1):c.18G>T (p.Glu6Asp)	NUS1 (E6D)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2822113	NM_138459.5(NUS1):c.567G>A (p.Lys189=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2822088	NM_138459.5(NUS1):c.565A>T (p.Lys189Ter)	NUS1 (K189*)	Single nucleotide variant (nonsense)	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 2820331	NM_138459.5(NUS1):c.59G>C (p.Arg20Pro)	NUS1 (R20P)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2815971	NM_138459.5(NUS1):c.308T>G (p.Leu103Arg)	NUS1 (L103R)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GLikely pathogenic
Select item 2812402	NM_138459.5(NUS1):c.329A>G (p.Gln110Arg)	NUS1 (Q110R)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2811327	NM_138459.5(NUS1):c.875G>A (p.Gly292Glu)	NUS1 (G292E)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2810434	NM_138459.5(NUS1):c.170G>T (p.Arg57Leu)	NUS1 (R57L)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2810386	NM_138459.5(NUS1):c.3G>A (p.Met1Ile)	NUS1 (M1I)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2804639	NM_138459.5(NUS1):c.601G>T (p.Val201Leu)	NUS1 (V201L)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2800776	NM_138459.5(NUS1):c.383G>A (p.Gly128Asp)	NUS1 (G128D)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2790587	NM_138459.5(NUS1):c.554A>T (p.His185Leu)	NUS1 (H185L)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2787710	NM_138459.5(NUS1):c.125G>C (p.Arg42Pro)	NUS1 (R42P)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2785055	NM_138459.5(NUS1):c.270C>T (p.Asp90=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2782077	NM_138459.5(NUS1):c.807C>T (p.His269=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2777832	NM_138459.5(NUS1):c.542-20T>C	NUS1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2769035	NM_138459.5(NUS1):c.836_837dup (p.Ala280fs)	NUS1 (A280fs)	Microsatellite (frameshift variant)	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 2768924	NM_138459.5(NUS1):c.577C>G (p.Pro193Ala)	NUS1 (P193A)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2765992	NM_138459.5(NUS1):c.627G>A (p.Gln209=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2765713	NM_138459.5(NUS1):c.792-3C>G	NUS1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2758140	NM_138459.5(NUS1):c.156C>G (p.Leu52=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2758134	NM_138459.5(NUS1):c.378del (p.Val127fs)	NUS1 (V127fs)	Deletion (frameshift variant)	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 2754049	NM_138459.5(NUS1):c.417T>C (p.Gly139=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2747349	NM_138459.5(NUS1):c.234_280dup (p.Leu94fs)	NUS1 (L94fs)	Duplication (frameshift variant)	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 2741336	NM_138459.5(NUS1):c.792-18C>T	NUS1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2739596	NM_138459.5(NUS1):c.280T>C (p.Leu94=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2738050	NM_138459.5(NUS1):c.39C>T (p.His13=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2737752	NM_138459.5(NUS1):c.669A>T (p.Val223=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2723399	NM_138459.5(NUS1):c.828C>T (p.Asp276=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2722840	NM_138459.5(NUS1):c.29_52dup (p.Cys17_Leu18insArgValLeuHisAlaLeuLeuCys)	NUS1	Duplication (inframe_insertion)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2721528	NM_138459.5(NUS1):c.573G>T (p.Leu191=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2720738	NM_138459.5(NUS1):c.765C>T (p.Pro255=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2719066	NM_138459.5(NUS1):c.418A>G (p.Ile140Val)	NUS1 (I140V)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2717964	NM_138459.5(NUS1):c.416-11C>T	NUS1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2706006	NM_138459.5(NUS1):c.791+6T>C	NUS1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2673078	NM_138459.5(NUS1):c.307C>G (p.Leu103Val)	NUS1 (L103V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2656879	NM_138459.5(NUS1):c.195C>T (p.Asn65=)	NUS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2511436	NM_138459.5(NUS1):c.169C>T (p.Arg57Cys)	NUS1 (R57C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2428324	NM_138459.5(NUS1):c.542-9T>C	NUS1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2427243	NC_000006.11:g.(?_117786180)_(117997268_?)dup	DCBLD1, GOPC +1 more	Duplication	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2427242	NC_000006.11:g.(?_116441236)_(119252888_?)del	ASF1A, CALHM4 +24 more	Deletion	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 2427241	NC_000006.11:g.(?_117996834)_(117997268_?)del	NUS1	Deletion	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 2419108	NM_138459.5(NUS1):c.158G>A (p.Gly53Asp)	NUS1 (G53D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2416198	NM_138459.5(NUS1):c.502T>C (p.Ser168Pro)	NUS1 (S168P)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2335602	NM_138459.5(NUS1):c.277T>A (p.Ser93Thr)	NUS1 (S93T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2197745	NM_138459.5(NUS1):c.621T>C (p.Phe207=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GBenign
Select item 2194938	NM_138459.5(NUS1):c.199C>T (p.Arg67Cys)	NUS1 (R67C)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2191078	NM_138459.5(NUS1):c.422T>G (p.Phe141Cys)	NUS1 (F141C)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2190866	NM_138459.5(NUS1):c.197G>A (p.Arg66His)	NUS1 (R66H)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2189541	NM_138459.5(NUS1):c.599T>C (p.Ile200Thr)	NUS1 (I200T)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2185755	NM_138459.5(NUS1):c.90C>T (p.Phe30=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2182269	NM_138459.5(NUS1):c.68CCT[1] (p.Ser24del)	NUS1 (S24del)	Microsatellite (inframe_deletion)	NUS1-related disorder +1 more	GUncertain significance

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