13578[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC123620117, LOC123620118 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	LOC132089385, LOC132089386 +221 more	Copy number loss	See cases	GPathogenic
Select item 2375828	NM_014345.3(ZNF318):c.6824C>G (p.Ser2275Cys)	ZNF318 (S2275C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399797	NM_014345.3(ZNF318):c.6802G>A (p.Ala2268Thr)	ZNF318 (A2268T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612353	NM_014345.3(ZNF318):c.6790A>G (p.Thr2264Ala)	ZNF318 (T2264A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2333650	NM_014345.3(ZNF318):c.6767C>T (p.Pro2256Leu)	ZNF318 (P2256L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559512	NM_014345.3(ZNF318):c.6764T>C (p.Val2255Ala)	ZNF318 (V2255A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621838	NM_014345.3(ZNF318):c.6721T>G (p.Ser2241Ala)	ZNF318 (S2241A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308719	NM_014345.3(ZNF318):c.6718G>C (p.Val2240Leu)	ZNF318 (V2240L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456368	NM_014345.3(ZNF318):c.6713C>A (p.Ala2238Asp)	ZNF318 (A2238D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229497	NM_014345.3(ZNF318):c.6691G>A (p.Asp2231Asn)	ZNF318 (D2231N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2507877	NM_014345.3(ZNF318):c.6674T>G (p.Val2225Gly)	ZNF318 (V2225G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260365	NM_014345.3(ZNF318):c.6668T>C (p.Leu2223Pro)	ZNF318 (L2223P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2240905	NM_014345.3(ZNF318):c.6653C>A (p.Thr2218Lys)	ZNF318 (T2218K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777809	NM_014345.3(ZNF318):c.6639G>A (p.Ser2213=)	ZNF318	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3195111	NM_014345.3(ZNF318):c.6451C>G (p.Leu2151Val)	ZNF318 (L2151V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220366	NM_014345.3(ZNF318):c.6287G>T (p.Ser2096Ile)	ZNF318 (S2096I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457122	NM_014345.3(ZNF318):c.6190C>A (p.Pro2064Thr)	ZNF318 (P2064T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557747	NM_014345.3(ZNF318):c.6178G>A (p.Ala2060Thr)	ZNF318 (A2060T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2656594	NM_014345.3(ZNF318):c.6171C>T (p.Ser2057=)	ZNF318	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2314640	NM_014345.3(ZNF318):c.6158G>A (p.Gly2053Glu)	ZNF318 (G2053E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195110	NM_014345.3(ZNF318):c.6145G>A (p.Val2049Ile)	ZNF318 (V2049I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195109	NM_014345.3(ZNF318):c.6136G>A (p.Glu2046Lys)	ZNF318 (E2046K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517539	NM_014345.3(ZNF318):c.6082C>T (p.Arg2028Trp)	ZNF318 (R2028W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784089	NM_014345.3(ZNF318):c.5946A>G (p.Leu1982=)	ZNF318	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2656595	NM_014345.3(ZNF318):c.5904C>G (p.Thr1968=)	ZNF318	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2375827	NM_014345.3(ZNF318):c.5824A>G (p.Arg1942Gly)	ZNF318 (R1942G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606837	NM_014345.3(ZNF318):c.5807G>C (p.Arg1936Thr)	ZNF318 (R1936T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372283	NM_014345.3(ZNF318):c.5766G>T (p.Glu1922Asp)	ZNF318 (E1922D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195108	NM_014345.3(ZNF318):c.5710T>G (p.Leu1904Val)	ZNF318 (L1904V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511331	NM_014345.3(ZNF318):c.5704A>G (p.Met1902Val)	ZNF318 (M1902V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2251418	NM_014345.3(ZNF318):c.5663C>G (p.Ser1888Cys)	ZNF318 (S1888C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195107	NM_014345.3(ZNF318):c.5648C>G (p.Thr1883Arg)	ZNF318 (T1883R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251507	NM_014345.3(ZNF318):c.5454G>T (p.Met1818Ile)	ZNF318 (M1818I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233454	NM_014345.3(ZNF318):c.5420A>T (p.Asp1807Val)	ZNF318 (D1807V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254831	NM_014345.3(ZNF318):c.5335A>G (p.Thr1779Ala)	ZNF318 (T1779A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195106	NM_014345.3(ZNF318):c.5313A>C (p.Arg1771Ser)	ZNF318 (R1771S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608460	NM_014345.3(ZNF318):c.5306A>T (p.Asp1769Val)	ZNF318 (D1769V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195105	NM_014345.3(ZNF318):c.5251C>T (p.Leu1751Phe)	ZNF318 (L1751F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309516	NM_014345.3(ZNF318):c.5138C>T (p.Ser1713Phe)	ZNF318 (S1713F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357782	NM_014345.3(ZNF318):c.5111T>A (p.Phe1704Tyr)	ZNF318 (F1704Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656596	NM_014345.3(ZNF318):c.5058T>C (p.Tyr1686=)	ZNF318	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2555716	NM_014345.3(ZNF318):c.4988G>A (p.Gly1663Asp)	ZNF318 (G1663D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2351740	NM_014345.3(ZNF318):c.4918A>T (p.Ser1640Cys)	LOC129996502, ZNF318 (S1640C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301956	NM_014345.3(ZNF318):c.4843A>G (p.Thr1615Ala)	ZNF318 (T1615A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540456	NM_014345.3(ZNF318):c.4835C>T (p.Thr1612Ile)	ZNF318 (T1612I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195102	NM_014345.3(ZNF318):c.4823A>G (p.Lys1608Arg)	ZNF318 (K1608R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708925	NM_014345.3(ZNF318):c.4644A>G (p.Glu1548=)	ZNF318	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3195101	NM_014345.3(ZNF318):c.4481A>G (p.Asn1494Ser)	ZNF318 (N1494S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599050	NM_014345.3(ZNF318):c.4471G>A (p.Val1491Met)	ZNF318 (V1491M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597698	NM_014345.3(ZNF318):c.4414A>G (p.Ile1472Val)	ZNF318 (I1472V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2300367	NM_014345.3(ZNF318):c.4379A>C (p.His1460Pro)	ZNF318 (H1460P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770729	NM_014345.3(ZNF318):c.4337C>T (p.Pro1446Leu)	ZNF318 (P1446L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2268727	NM_014345.3(ZNF318):c.4319T>C (p.Ile1440Thr)	ZNF318 (I1440T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195100	NM_014345.3(ZNF318):c.4303C>T (p.His1435Tyr)	ZNF318 (H1435Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307290	NM_014345.3(ZNF318):c.4154C>T (p.Thr1385Ile)	ZNF318 (T1385I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195099	NM_014345.3(ZNF318):c.4153A>G (p.Thr1385Ala)	ZNF318 (T1385A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195098	NM_014345.3(ZNF318):c.3947A>C (p.Lys1316Thr)	ZNF318 (K1316T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195097	NM_014345.3(ZNF318):c.3899T>A (p.Ile1300Asn)	ZNF318 (I1300N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195096	NM_014345.3(ZNF318):c.3706C>G (p.Gln1236Glu)	ZNF318 (Q1236E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195095	NM_014345.3(ZNF318):c.3648G>C (p.Lys1216Asn)	ZNF318 (K1216N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492473	NM_014345.3(ZNF318):c.3641A>G (p.Glu1214Gly)	ZNF318 (E1214G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195094	NM_014345.3(ZNF318):c.3545G>A (p.Arg1182His)	ZNF318 (R1182H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529584	NM_014345.3(ZNF318):c.3382G>C (p.Glu1128Gln)	ZNF318 (E1128Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261546	NM_014345.3(ZNF318):c.3346C>T (p.Arg1116Cys)	ZNF318 (R1116C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355278	NM_014345.3(ZNF318):c.3338C>A (p.Ala1113Asp)	ZNF318 (A1113D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768097	NM_014345.3(ZNF318):c.3277-7del	ZNF318	Deletion (intron variant)	not provided	GBenign
Select item 3195093	NM_014345.3(ZNF318):c.3159G>T (p.Gln1053His)	ZNF318 (Q1053H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260580	NM_014345.3(ZNF318):c.3135G>T (p.Gln1045His)	ZNF318 (Q1045H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195092	NM_014345.3(ZNF318):c.3116A>G (p.Lys1039Arg)	ZNF318 (K1039R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393691	NM_014345.3(ZNF318):c.3068A>G (p.Asn1023Ser)	ZNF318 (N1023S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330329	NM_014345.3(ZNF318):c.2828T>C (p.Val943Ala)	ZNF318 (V943A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333828	NM_014345.3(ZNF318):c.2778G>A (p.Met926Ile)	ZNF318 (M926I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208365	NM_014345.3(ZNF318):c.2753G>A (p.Arg918Gln)	ZNF318 (R918Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600799	NM_014345.3(ZNF318):c.2723A>T (p.Lys908Met)	ZNF318 (K908M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195090	NM_014345.3(ZNF318):c.2677G>A (p.Glu893Lys)	ZNF318 (E893K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489562	NM_014345.3(ZNF318):c.2646G>T (p.Lys882Asn)	ZNF318 (K882N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489519	NM_014345.3(ZNF318):c.2632A>G (p.Ile878Val)	ZNF318 (I878V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324715	NM_014345.3(ZNF318):c.2578C>G (p.Gln860Glu)	ZNF318 (Q860E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195089	NM_014345.3(ZNF318):c.2576C>T (p.Ala859Val)	ZNF318 (A859V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362190	NM_014345.3(ZNF318):c.2573C>T (p.Ala858Val)	ZNF318 (A858V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601989	NM_014345.3(ZNF318):c.2474C>G (p.Thr825Ser)	ZNF318 (T825S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195088	NM_014345.3(ZNF318):c.2470A>G (p.Ile824Val)	ZNF318 (I824V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2493438	NM_014345.3(ZNF318):c.2407C>T (p.Pro803Ser)	ZNF318 (P803S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286322	NM_014345.3(ZNF318):c.2368G>A (p.Ala790Thr)	ZNF318 (A790T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195086	NM_014345.3(ZNF318):c.2359T>A (p.Ser787Thr)	ZNF318 (S787T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369655	NM_014345.3(ZNF318):c.2315C>T (p.Ala772Val)	ZNF318 (A772V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387100	NM_014345.3(ZNF318):c.2280G>T (p.Gln760His)	ZNF318 (Q760H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195085	NM_014345.3(ZNF318):c.2258C>A (p.Pro753Gln)	ZNF318 (P753Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195084	NM_014345.3(ZNF318):c.2236C>T (p.Pro746Ser)	ZNF318 (P746S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195083	NM_014345.3(ZNF318):c.2189G>C (p.Ser730Thr)	ZNF318 (S730T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346731	NM_014345.3(ZNF318):c.2165T>C (p.Ile722Thr)	ZNF318 (I722T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620577	NM_014345.3(ZNF318):c.2084A>G (p.His695Arg)	ZNF318 (H695R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195081	NM_014345.3(ZNF318):c.2059C>T (p.His687Tyr)	ZNF318 (H687Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195080	NM_014345.3(ZNF318):c.1967G>A (p.Arg656His)	ZNF318 (R656H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656597	NM_014345.3(ZNF318):c.1920T>C (p.Phe640=)	ZNF318	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2258168	NM_014345.3(ZNF318):c.1916A>G (p.Tyr639Cys)	ZNF318 (Y639C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408575	NM_014345.3(ZNF318):c.1898G>A (p.Arg633His)	ZNF318 (R633H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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