ClinVar for Gene (Select 9785) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271913	NM_014003.4(DHX38):c.3156G>A (p.Met1052Ile)	DHX38, LOC126862391 (M1052I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271911	NM_014003.4(DHX38):c.986T>C (p.Met329Thr)	DHX38 (M329T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271910	NM_014003.4(DHX38):c.1126C>T (p.Arg376Cys)	DHX38 (R376C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271909	NM_014003.4(DHX38):c.1097A>G (p.Gln366Arg)	DHX38 (Q366R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271908	NM_014003.4(DHX38):c.136C>T (p.Pro46Ser)	DHX38 (P46S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243655	NC_000016.9:g.(?_70286624)_(72146396_?)del	COG4, AARS1 +27 more	Deletion	not provided	GPathogenic
Select item 3243645	NC_000016.9:g.(?_72130057)_(72146396_?)dup	DHX38	Duplication	not provided	GUncertain significance
Select item 3243300	NC_000016.9:g.(?_68679283)_(72146396_?)del	AARS1, AP1G1 +51 more	Deletion	Immunodeficiency	GUncertain significance
Select item 3082290	NM_014003.4(DHX38):c.961C>A (p.Gln321Lys)	DHX38 (Q321K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082289	NM_014003.4(DHX38):c.68G>C (p.Gly23Ala)	DHX38 (G23A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082286	NM_014003.4(DHX38):c.3559C>T (p.Arg1187Trp)	DHX38 (R1187W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082285	NM_014003.4(DHX38):c.3464G>A (p.Gly1155Asp)	DHX38 (G1155D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082284	NM_014003.4(DHX38):c.295C>A (p.Gln99Lys)	DHX38 (Q99K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082283	NM_014003.4(DHX38):c.2617G>T (p.Ala873Ser)	DHX38 (A873S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082282	NM_014003.4(DHX38):c.2396G>C (p.Arg799Pro)	DHX38 (R799P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082280	NM_014003.4(DHX38):c.1536G>T (p.Lys512Asn)	DHX38 (K512N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082279	NM_014003.4(DHX38):c.1524C>A (p.His508Gln)	DHX38 (H508Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082278	NM_014003.4(DHX38):c.134G>A (p.Arg45His)	DHX38 (R45H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082277	NM_014003.4(DHX38):c.1174G>C (p.Glu392Gln)	DHX38 (E392Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3028436	NM_014003.4(DHX38):c.3578G>A (p.Arg1193His)	DHX38 (R1193H)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028435	NM_014003.4(DHX38):c.3532C>T (p.Leu1178=)	DHX38	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028434	NM_014003.4(DHX38):c.3004G>A (p.Ala1002Thr)	DHX38, LOC126862391 (A1002T)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028433	NM_014003.4(DHX38):c.2872A>G (p.Met958Val)	DHX38, LOC126862391 (M958V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028432	NM_014003.4(DHX38):c.2742G>A (p.Pro914=)	DHX38	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GLikely benign
Select item 3028431	NM_014003.4(DHX38):c.2703C>G (p.Leu901=)	DHX38	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028430	NM_014003.4(DHX38):c.2646A>C (p.Thr882=)	DHX38	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028429	NM_014003.4(DHX38):c.2635C>T (p.Leu879=)	DHX38	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028428	NM_014003.4(DHX38):c.2531C>T (p.Pro844Leu)	DHX38 (P844L)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028427	NM_014003.4(DHX38):c.2242C>G (p.Pro748Ala)	DHX38 (P748A)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028425	NM_014003.4(DHX38):c.2220del (p.Gly741fs)	DHX38 (G741fs)	Deletion (frameshift variant)	Retinal dystrophy	GUncertain significance
Select item 3028424	NM_014003.4(DHX38):c.1879T>A (p.Tyr627Asn)	DHX38 (Y627N)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3028423	NM_014003.4(DHX38):c.1620G>A (p.Glu540=)	DHX38	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028422	NM_014003.4(DHX38):c.1301A>G (p.Lys434Arg)	DHX38 (K434R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028421	NM_014003.4(DHX38):c.916T>C (p.Phe306Leu)	DHX38 (F306L)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028420	NM_014003.4(DHX38):c.850T>G (p.Leu284Val)	DHX38 (L284V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028419	NM_014003.4(DHX38):c.742C>T (p.Leu248=)	DHX38	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028418	NM_014003.4(DHX38):c.601C>T (p.Arg201Ter)	DHX38 (R201*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 3028417	NM_014003.4(DHX38):c.598C>G (p.Pro200Ala)	DHX38 (P200A)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028416	NM_014003.4(DHX38):c.580A>G (p.Arg194Gly)	DHX38 (R194G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028414	NM_014003.4(DHX38):c.401A>G (p.Gln134Arg)	DHX38 (Q134R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028413	NM_014003.4(DHX38):c.324A>G (p.Arg108=)	DHX38	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028412	NM_014003.4(DHX38):c.217A>C (p.Lys73Gln)	DHX38 (K73Q)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028411	NM_014003.4(DHX38):c.213G>C (p.Lys71Asn)	DHX38 (K71N)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028410	NM_014003.4(DHX38):c.211AAG[2] (p.Lys73del)	DHX38 (K73del)	Microsatellite (inframe_deletion)	Retinal dystrophy	GUncertain significance
Select item 3025283	NM_014003.4(DHX38):c.2452A>C (p.Met818Leu)	DHX38 (M818L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013097	NM_014003.4(DHX38):c.2446G>A (p.Gly816Ser)	DHX38 (G816S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009175	NM_014003.4(DHX38):c.2217C>T (p.Ala739=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007511	NM_014003.4(DHX38):c.423A>G (p.Glu141=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002823	NM_014003.4(DHX38):c.1386+13G>C	DHX38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001016	NM_014003.4(DHX38):c.3312C>T (p.Thr1104=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999820	NM_014003.4(DHX38):c.2557C>A (p.Arg853=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998461	NM_014003.4(DHX38):c.982A>G (p.Met328Val)	DHX38 (M328V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997782	NM_014003.4(DHX38):c.3183G>A (p.Ser1061=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996657	NM_014003.4(DHX38):c.1440C>T (p.Gly480=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995375	NM_014003.4(DHX38):c.2379+17G>A	DHX38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986085	NM_014003.4(DHX38):c.2400G>A (p.Lys800=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984192	NM_014003.4(DHX38):c.3369C>T (p.Val1123=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982784	NM_014003.4(DHX38):c.2445C>T (p.Asp815=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968742	NM_014003.4(DHX38):c.960+15C>T	DHX38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967714	NM_014003.4(DHX38):c.360T>C (p.His120=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963068	NM_014003.4(DHX38):c.1386+18G>A	DHX38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956699	NM_014003.4(DHX38):c.3306C>T (p.His1102=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910762	NM_014003.4(DHX38):c.2964+3G>A	DHX38, LOC126862391	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2908295	NM_014003.4(DHX38):c.1017G>A (p.Pro339=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876952	NM_014003.4(DHX38):c.2851C>T (p.Leu951=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874285	NM_014003.4(DHX38):c.2810-8T>C	DHX38, LOC126862391	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868150	NM_014003.4(DHX38):c.2152-12C>T	DHX38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2849132	NM_014003.4(DHX38):c.1284G>A (p.Glu428=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847523	NM_014003.4(DHX38):c.2488-7C>G	DHX38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844496	NM_014003.4(DHX38):c.3121-4C>G	DHX38, LOC126862391	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2829255	NM_014003.4(DHX38):c.2253G>A (p.Glu751=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2826426	NM_014003.4(DHX38):c.1117-20C>G	DHX38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820842	NM_014003.4(DHX38):c.2601-16G>A	DHX38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800915	NM_014003.4(DHX38):c.3600-20C>G	DHX38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800021	NM_014003.4(DHX38):c.3348C>T (p.Tyr1116=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792636	NM_014003.4(DHX38):c.600A>G (p.Pro200=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783458	NM_014003.4(DHX38):c.2244T>C (p.Pro748=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782085	NM_014003.4(DHX38):c.2600+15C>T	DHX38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2758323	NM_014003.4(DHX38):c.2328G>A (p.Leu776=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2750523	NM_014003.4(DHX38):c.1341C>A (p.Gly447=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2724628	NM_014003.4(DHX38):c.2380-4C>G	DHX38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2719057	NM_014003.4(DHX38):c.2109C>T (p.His703=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712014	NM_014003.4(DHX38):c.2406C>T (p.Ile802=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708397	NM_014003.4(DHX38):c.3582C>T (p.Ser1194=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2698182	NM_014003.4(DHX38):c.960+13A>G	DHX38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693654	NM_014003.4(DHX38):c.1279-4G>A	DHX38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685575	GRCh37/hg19 16q22.1-22.3(chr16:69709450-73535741)x1	AARS1, AP1G1 +40 more	Copy number loss	not provided	GPathogenic
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 2646808	NM_014003.4(DHX38):c.2005C>T (p.Arg669Trp)	DHX38 (R669W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646807	NM_014003.4(DHX38):c.1832A>G (p.Tyr611Cys)	DHX38 (Y611C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2541621	NM_014003.4(DHX38):c.3656G>C (p.Arg1219Pro)	DHX38 (R1219P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537878	NM_014003.4(DHX38):c.3511G>T (p.Ala1171Ser)	DHX38 (A1171S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533201	NM_014003.4(DHX38):c.1697C>A (p.Thr566Lys)	DHX38 (T566K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490223	NM_014003.4(DHX38):c.3559C>G (p.Arg1187Gly)	DHX38 (R1187G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485557	NM_014003.4(DHX38):c.244T>G (p.Trp82Gly)	DHX38 (W82G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481288	NM_014003.4(DHX38):c.2897G>A (p.Gly966Asp)	DHX38, LOC126862391 (G966D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463993	NM_014003.4(DHX38):c.743T>C (p.Leu248Pro)	DHX38 (L248P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2425880	NC_000016.9:g.(?_72134315)_(72146396_?)dup	DHX38	Duplication	not provided	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2421792	NM_014003.4(DHX38):c.3003C>T (p.Phe1001=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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