ClinVar for Gene (Select 8626) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328236	NM_003722.5(TP63):c.431C>T (p.Thr144Met)	TP63 (T142M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3253399	NM_003722.5(TP63):c.1042C>T (p.Pro348Ser)	TP63 (P169S +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3247003	NC_000003.11:g.(?_189357602)_(192126012_?)del	CCDC50, CLDN1 +10 more	Deletion	not provided	GPathogenic
Select item 3246950	NC_000003.11:g.(?_189604163)_(189604360_?)del	TP63	Deletion	TP63-Related Spectrum Disorders	GUncertain significance
Select item 3239197	NM_003722.5(TP63):c.1089A>G (p.Gln363=)	TP63	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3233859	NM_003722.5(TP63):c.1666T>C (p.Leu556=)	TP63	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3049344	NM_003722.5(TP63):c.444C>T (p.Pro148=)	TP63	Single nucleotide variant (synonymous variant +1 more)	TP63-related disorder	GLikely benign
Select item 3032396	NM_003722.5(TP63):c.1507+8C>T	TP63	Single nucleotide variant (intron variant)	TP63-related disorder	GLikely benign
Select item 3032212	NM_003722.5(TP63):c.114C>T (p.Ser38=)	TP63	Single nucleotide variant (synonymous variant)	TP63-related disorder	GLikely benign
Select item 3022286	NM_003722.5(TP63):c.1294A>G (p.Ile432Val)	TP63 (I253V +6 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 3016840	NM_003722.5(TP63):c.579+11C>T	TP63	Single nucleotide variant (intron variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 3009000	NM_003722.5(TP63):c.63-18C>A	TP63	Single nucleotide variant (intron variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 3008116	NM_003722.5(TP63):c.1369T>C (p.Ser457Pro)	TP63 (S274P +6 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2999969	NM_003722.5(TP63):c.996G>A (p.Gly332=)	TP63	Single nucleotide variant (synonymous variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2998703	NM_003722.5(TP63):c.1168A>G (p.Ile390Val)	TP63 (I211V +6 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2996251	NM_003722.5(TP63):c.624A>G (p.Thr208=)	TP63	Single nucleotide variant (synonymous variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2991900	NM_003722.5(TP63):c.1689C>T (p.Asp563=)	TP63	Single nucleotide variant (synonymous variant +1 more)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2985355	NM_003722.5(TP63):c.434C>A (p.Ala145Glu)	TP63 (A143E +2 more)	Single nucleotide variant (missense variant +1 more)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2969776	NM_003722.5(TP63):c.1142A>G (p.Asn381Ser)	TP63 (N202S +6 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2960995	NM_003722.5(TP63):c.1491T>C (p.Asp497=)	TP63	Single nucleotide variant (synonymous variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2959589	NM_003722.5(TP63):c.1270A>C (p.Met424Leu)	TP63 (M241L +6 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2958915	NM_003722.5(TP63):c.1130-16A>G	TP63	Single nucleotide variant (intron variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2958387	NM_003722.5(TP63):c.711C>T (p.Val237=)	TP63	Single nucleotide variant (synonymous variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2919149	NM_003722.5(TP63):c.1483A>G (p.Ile495Val)	TP63 (I397V +6 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2917965	NM_003722.5(TP63):c.882+18A>G	TP63	Single nucleotide variant (intron variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2917299	NM_003722.5(TP63):c.580-17G>T	TP63	Single nucleotide variant (intron variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2916968	NM_003722.5(TP63):c.1477A>G (p.Thr493Ala)	TP63 (T310A +6 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2915115	NM_003722.5(TP63):c.1898C>G (p.Thr633Ser)	TP63 (T454S +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2907748	NM_003722.5(TP63):c.1602C>T (p.Thr534=)	TP63	Single nucleotide variant (synonymous variant +1 more)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2907505	NM_003722.5(TP63):c.1131G>A (p.Pro377=)	TP63	Single nucleotide variant (synonymous variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2907137	NM_003722.5(TP63):c.1388C>T (p.Ser463Phe)	TP63 (S284F +6 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2904475	NM_003722.5(TP63):c.248A>T (p.Asp83Val)	TP63 (D81V +1 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2895626	NM_003722.5(TP63):c.1846C>T (p.Leu616Phe)	TP63 (L437F +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2893708	NM_003722.5(TP63):c.1106A>G (p.Lys369Arg)	TP63 (K190R +3 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2891732	NM_003722.5(TP63):c.1002C>A (p.Val334=)	TP63	Single nucleotide variant (synonymous variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2890490	NM_003722.5(TP63):c.489C>T (p.Pro163=)	TP63	Single nucleotide variant (synonymous variant +1 more)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2889936	NM_003722.5(TP63):c.1233T>C (p.Tyr411=)	TP63	Single nucleotide variant (synonymous variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2889616	NM_003722.5(TP63):c.1223G>A (p.Arg408His)	TP63 (R225H +6 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2888757	NM_003722.5(TP63):c.1900C>T (p.Arg634Trp)	TP63 (R455W +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2885956	NM_003722.5(TP63):c.762C>T (p.Asn254=)	TP63	Single nucleotide variant (synonymous variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2885219	NM_003722.5(TP63):c.891T>G (p.Thr297=)	TP63	Single nucleotide variant (synonymous variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2884159	NM_003722.5(TP63):c.1122G>A (p.Thr374=)	TP63	Single nucleotide variant (synonymous variant +1 more)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2883810	NM_003722.5(TP63):c.302C>T (p.Ser101Leu)	TP63 (S101L +1 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2883542	NM_003722.5(TP63):c.1094C>T (p.Ser365Leu)	TP63 (S365L +3 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2882489	NM_003722.5(TP63):c.1986C>T (p.Asn662=)	TP63	Single nucleotide variant (3 prime UTR variant +1 more)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2882188	NM_003722.5(TP63):c.1005G>A (p.Leu335=)	TP63	Single nucleotide variant (synonymous variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2881721	NM_003722.5(TP63):c.1251C>A (p.Ile417=)	TP63	Single nucleotide variant (synonymous variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2881014	NM_003722.5(TP63):c.1940G>A (p.Arg647His)	TP63 (R643H +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2878872	NM_003722.5(TP63):c.459C>T (p.Ser153=)	TP63	Single nucleotide variant (synonymous variant +1 more)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2878498	NM_003722.5(TP63):c.1747-10T>G	TP63	Single nucleotide variant (intron variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2878389	NM_003722.5(TP63):c.882+17C>T	TP63	Single nucleotide variant (intron variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2872737	NM_003722.5(TP63):c.139A>G (p.Asn47Asp)	TP63 (N47D +1 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2870268	NM_003722.5(TP63):c.362A>G (p.Asp121Gly)	TP63 (D121G +2 more)	Single nucleotide variant (missense variant +1 more)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2868923	NM_003722.5(TP63):c.1607A>T (p.His536Leu)	TP63 (H532L +4 more)	Single nucleotide variant (missense variant +1 more)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2868404	NM_003722.5(TP63):c.912C>T (p.Tyr304=)	TP63	Single nucleotide variant (synonymous variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2863543	NM_003722.5(TP63):c.1107G>A (p.Lys369=)	TP63	Single nucleotide variant (synonymous variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2861827	NM_003722.5(TP63):c.435G>A (p.Ala145=)	TP63	Single nucleotide variant (synonymous variant +1 more)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2860480	NM_003722.5(TP63):c.119T>G (p.Met40Arg)	TP63 (M40R +1 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2858088	NM_003722.5(TP63):c.1985A>G (p.Asn662Ser)	TP63 (N568S +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2856976	NM_003722.5(TP63):c.1574T>A (p.Leu525His)	TP63 (L523H +4 more)	Single nucleotide variant (missense variant +1 more)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2855280	NM_003722.5(TP63):c.736A>G (p.Asn246Asp)	TP63 (N246D +3 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2853843	NM_003722.5(TP63):c.1674T>G (p.Cys558Trp)	TP63 (C554W +4 more)	Single nucleotide variant (missense variant +1 more)	TP63-Related Spectrum Disorders	GLikely pathogenic
Select item 2852946	NM_003722.5(TP63):c.1813C>T (p.Arg605Trp)	TP63 (R605W +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2849003	NM_003722.5(TP63):c.713C>T (p.Thr238Met)	TP63 (T236M +3 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2848456	NM_003722.5(TP63):c.1717A>G (p.Ile573Val)	TP63 (I479V +4 more)	Single nucleotide variant (missense variant +1 more)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2844758	NM_003722.5(TP63):c.96A>G (p.Lys32=)	TP63	Single nucleotide variant (synonymous variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2844213	NM_003722.5(TP63):c.579+18G>A	TP63	Single nucleotide variant (intron variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2842969	NM_003722.5(TP63):c.888C>T (p.Gly296=)	TP63	Single nucleotide variant (synonymous variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2839578	NM_003722.5(TP63):c.1652+18G>A	TP63	Single nucleotide variant (intron variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2835808	NM_003722.5(TP63):c.366G>T (p.Gln122His)	TP63 (Q120H +2 more)	Single nucleotide variant (missense variant +1 more)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2834981	NM_003722.5(TP63):c.1201T>C (p.Leu401=)	TP63	Single nucleotide variant (synonymous variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2832144	NM_003722.5(TP63):c.1886G>C (p.Gly629Ala)	TP63 (G450A +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2831954	NM_003722.5(TP63):c.468C>A (p.Phe156Leu)	TP63 (F62L +2 more)	Single nucleotide variant (missense variant +1 more)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2828744	NM_003722.5(TP63):c.1767C>A (p.Ile589=)	TP63 (P416T +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2827685	NM_003722.5(TP63):c.1747-16_1747-15insCC	TP63	Insertion (intron variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2820161	NM_003722.5(TP63):c.1130-8T>C	TP63	Single nucleotide variant (intron variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2818443	NM_003722.5(TP63):c.1653-15C>T	TP63	Single nucleotide variant (intron variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2818325	NM_003722.5(TP63):c.276C>T (p.Ser92=)	TP63	Single nucleotide variant (synonymous variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2809959	NM_003722.5(TP63):c.1617C>T (p.Pro539=)	TP63	Single nucleotide variant (synonymous variant +1 more)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2804317	NM_003722.5(TP63):c.1910G>A (p.Arg637His)	TP63 (R458H +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2801194	NM_003722.5(TP63):c.72A>T (p.Glu24Asp)	TP63 (E22D +1 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2800304	NM_003722.5(TP63):c.840C>T (p.Ile280=)	TP63	Single nucleotide variant (synonymous variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2797415	NM_003722.5(TP63):c.1930T>C (p.Phe644Leu)	TP63 (F644L +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2793817	NM_003722.5(TP63):c.1212+4G>C	TP63	Single nucleotide variant (intron variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2782703	NM_003722.5(TP63):c.465C>T (p.Thr155=)	TP63	Single nucleotide variant (synonymous variant +1 more)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2777904	NM_003722.5(TP63):c.1653-18_1653-5del	TP63	Deletion (intron variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2777222	NM_003722.5(TP63):c.1852C>T (p.Arg618Trp)	TP63 (R614W +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2771950	NM_003722.5(TP63):c.1528A>C (p.Met510Leu)	TP63 (M506L +4 more)	Single nucleotide variant (missense variant +1 more)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2771112	NM_003722.5(TP63):c.883-10T>C	TP63	Single nucleotide variant (intron variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2768803	NM_003722.5(TP63):c.1508-18C>T	TP63	Single nucleotide variant (intron variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2766076	NM_003722.5(TP63):c.608G>A (p.Cys203Tyr)	TP63 (C109Y +3 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2763910	NM_003722.5(TP63):c.1372T>C (p.Ser458Pro)	TP63 (S279P +6 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2763702	NM_003722.5(TP63):c.1473T>C (p.Thr491=)	TP63	Single nucleotide variant (synonymous variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2759919	NM_003722.5(TP63):c.766+11T>C	TP63	Single nucleotide variant (intron variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2754944	NM_003722.5(TP63):c.1971G>A (p.Glu657=)	TP63	Single nucleotide variant (3 prime UTR variant +1 more)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2750671	NM_003722.5(TP63):c.818C>T (p.Ala273Val)	TP63 (A271V +3 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2750151	NM_003722.5(TP63):c.1558A>C (p.Ser520Arg)	TP63 (S426R +4 more)	Single nucleotide variant (missense variant +1 more)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2745912	NM_003722.5(TP63):c.992+19A>G	TP63	Single nucleotide variant (intron variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2744971	NM_003722.5(TP63):c.1349+15G>A	TP63	Single nucleotide variant (intron variant)	TP63-Related Spectrum Disorders	GLikely benign

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