ClinVar for Gene (Select 5053) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244241	NC_000012.11:g.(?_103232953)_(103240749_?)del	PAH	Deletion	Phenylketonuria	GPathogenic
Select item 3244240	NC_000012.11:g.(?_103288493)_(103310908_?)del	PAH	Deletion	Phenylketonuria	GPathogenic
Select item 3244239	NC_000012.11:g.(?_103248894)_(103249131_?)del	PAH	Deletion	Phenylketonuria	GPathogenic
Select item 3244237	NC_000012.12:g.(?_102894715)_(102894938_?)del	PAH	Deletion	Phenylketonuria	GPathogenic
Select item 3244236	NC_000012.11:g.(?_103306549)_(103306696_?)del	PAH	Deletion	Phenylketonuria	GPathogenic
Select item 3244235	NC_000012.11:g.(?_103232953)_(103352733_?)del	ASCL1, PAH	Deletion	Phenylketonuria	GPathogenic
Select item 3240004	NM_000277.3(PAH):c.1179_1180del (p.Asn393fs)	PAH (N393fs)	Deletion (frameshift variant)	Phenylketonuria	GLikely pathogenic
Select item 3240003	NM_000277.3(PAH):c.130G>T (p.Glu44Ter)	PAH (E44*)	Single nucleotide variant (nonsense)	Phenylketonuria	GLikely pathogenic
Select item 3240001	NM_000277.3(PAH):c.745_755del (p.Leu249fs)	PAH (L249fs)	Deletion (frameshift variant)	Phenylketonuria	GLikely pathogenic
Select item 3233933	NM_000277.3(PAH):c.1199+4A>C	PAH	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3233932	NM_000277.3(PAH):c.1068C>T (p.Tyr356=)	PAH	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 3208023	NM_000277.3(PAH):c.1347G>T (p.Gln449His)	PAH (Q449H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063874	NM_000277.3(PAH):c.1189G>T (p.Glu397Ter)	PAH (E397*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic
Select item 3045630	NM_004316.4(ASCL1):c.151CAG[21] (p.Gln62_Ala63insGlnGlnGlnGlnGlnGlnGlnGlnGln)	ASCL1, PAH	Microsatellite (inframe_insertion +1 more)	ASCL1-related disorder	GLikely benign
Select item 3024028	NM_000277.3(PAH):c.352+16A>G	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 3021879	NM_000277.3(PAH):c.842+20T>G	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 3021640	NM_000277.3(PAH):c.1065+8C>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 3009151	NM_000277.3(PAH):c.168+13A>G	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 3006989	NM_000277.3(PAH):c.504C>T (p.Tyr168=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 3004256	NM_000277.3(PAH):c.912+20G>T	LOC126861615, PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 3001674	NM_000277.3(PAH):c.366A>G (p.Pro122=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 3000350	NM_000277.3(PAH):c.510-20A>G	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2984634	NM_000277.3(PAH):c.509+19T>C	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2984547	NM_000277.3(PAH):c.509+17T>C	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2982653	NM_000277.3(PAH):c.441+10T>C	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2980185	NM_000277.3(PAH):c.168+19T>G	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2979240	NM_000277.3(PAH):c.465T>C (p.Arg155=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 2965572	NM_000277.3(PAH):c.61-15C>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2919431	NM_000277.3(PAH):c.969+14C>T	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2918788	NM_000277.3(PAH):c.706+11A>T	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2918407	NM_000277.3(PAH):c.39G>A (p.Arg13=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 2918205	NM_000277.3(PAH):c.1200-19C>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2916262	NM_000277.3(PAH):c.1315+17T>C	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2915125	NM_000277.3(PAH):c.1200-16G>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2915060	NM_000277.3(PAH):c.510-14T>C	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2914735	NM_000277.3(PAH):c.1315+13C>T	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2914714	NM_000277.3(PAH):c.1215A>G (p.Thr405=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 2910718	NM_000277.3(PAH):c.912+18dup	LOC126861615, PAH	Duplication (intron variant)	Phenylketonuria	GBenign
Select item 2909134	NM_000277.3(PAH):c.1199+18G>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2909041	NM_000277.3(PAH):c.442-17T>C	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2907433	NM_000277.3(PAH):c.265C>A (p.Pro89Thr)	PAH (P89T)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic
Select item 2903715	NM_000277.3(PAH):c.1023G>A (p.Lys341=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 2899118	NM_000277.3(PAH):c.913-18A>G	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2896171	NM_000277.3(PAH):c.969+18C>T	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2894823	NM_000277.3(PAH):c.510-8T>C	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2892472	NM_000277.3(PAH):c.1315+16C>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2891786	NM_000277.3(PAH):c.835C>A (p.Pro279Thr)	PAH (P279T)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic
Select item 2887698	NM_000277.3(PAH):c.1065+16G>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2887506	NM_000277.3(PAH):c.1248A>G (p.Pro416=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 2886748	NM_000277.3(PAH):c.61-17T>C	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2884221	NM_000277.3(PAH):c.754C>A (p.Arg252=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 2878559	NM_000277.3(PAH):c.1199+88C>T	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2875064	NM_000277.3(PAH):c.509+15C>T	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2873480	NM_000277.3(PAH):c.1098C>G (p.Pro366=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 2869815	NM_000277.3(PAH):c.442-10T>C	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2867213	NM_000277.3(PAH):c.184C>T (p.Leu62=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 2861442	NM_000277.3(PAH):c.1066-5T>G	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2858539	NM_000277.3(PAH):c.807C>A (p.Ile269=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 2854891	NM_000277.3(PAH):c.1315+14del	PAH	Deletion (intron variant)	Phenylketonuria	GLikely benign
Select item 2854224	NM_000277.3(PAH):c.842+11T>C	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2848455	NM_000277.3(PAH):c.706+19C>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2848380	NM_000277.3(PAH):c.707-18T>G	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2846983	NM_000277.3(PAH):c.679C>T (p.Leu227=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 2846707	NM_000277.3(PAH):c.1065+15G>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2840878	NM_000277.3(PAH):c.526C>A (p.Arg176=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 2839508	NM_000277.3(PAH):c.912+15T>G	LOC126861615, PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2839173	NM_000277.3(PAH):c.477G>A (p.Lys159=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 2833013	NM_000277.3(PAH):c.60+12C>T	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2829441	NM_000277.3(PAH):c.250G>A (p.Asp84Asn)	PAH (D84N)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance
Select item 2829301	NM_000277.3(PAH):c.61-15C>T	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2828440	NM_000277.3(PAH):c.27A>C (p.Pro9=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 2827087	NM_000277.3(PAH):c.1113G>A (p.Lys371=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 2824741	NM_000277.3(PAH):c.61-4del	PAH	Deletion (intron variant)	Phenylketonuria	GLikely benign
Select item 2823915	NM_000277.3(PAH):c.930T>C (p.Ser310=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 2823419	NM_000277.3(PAH):c.61-4G>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2817729	NM_000277.3(PAH):c.913-8A>C	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2816125	NM_000277.3(PAH):c.811C>A (p.His271Asn)	PAH (H271N)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic
Select item 2815822	NM_000277.3(PAH):c.990G>A (p.Glu330=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 2813014	NM_000277.3(PAH):c.1316-9T>C	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2812926	NM_000277.3(PAH):c.713C>T (p.Thr238Ile)	PAH (T238I)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic
Select item 2810941	NM_000277.3(PAH):c.204A>G (p.Arg68=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 2810221	NM_000277.3(PAH):c.1011_1024dup (p.Ala342delinsGluThrProTer)	PAH	Duplication (nonsense)	Phenylketonuria	GPathogenic
Select item 2808932	NM_000277.3(PAH):c.61-10T>C	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2807352	NM_000277.3(PAH):c.60+19A>G	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2806388	NM_000277.3(PAH):c.706+11A>C	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2804829	NM_000277.3(PAH):c.1029T>C (p.Tyr343=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 2803858	NM_000277.3(PAH):c.442-14C>G	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2801629	NM_000277.3(PAH):c.169-18C>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2797753	NM_000277.3(PAH):c.168+17T>C	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2796422	NM_000277.3(PAH):c.707-4C>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2794377	NM_000277.3(PAH):c.168+18G>T	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2794180	NM_000277.3(PAH):c.1013A>T (p.Asp338Val)	PAH (D338V)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic
Select item 2793757	NM_000277.3(PAH):c.742C>T (p.Leu248=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 2791541	NM_000277.3(PAH):c.969+14C>G	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2788757	NM_000277.3(PAH):c.169-16_169-15del	PAH	Deletion (intron variant)	Phenylketonuria	GLikely benign
Select item 2782339	NM_000277.3(PAH):c.1221T>G (p.Pro407=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 2780254	NM_000277.3(PAH):c.472C>G (p.Arg158Gly)	PAH (R158G)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic
Select item 2780166	NM_000277.3(PAH):c.441+20G>T	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2779207	NM_000277.3(PAH):c.1017C>T (p.Ser339=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 2778404	NM_000277.3(PAH):c.1316-11T>C	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign

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