21339[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	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 146275	GRCh38/hg38 6p21.1-12.3(chr6:44985760-47986838)x3	ADGRF1, ADGRF2 +78 more	Copy number gain	See cases	GLikely pathogenic
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +228 more	Copy number loss	See cases	GPathogenic
Select item 2604372	NM_001010870.3(TDRD6):c.8C>T (p.Ser3Leu)	TDRD6, TDRD6-AS1 (S3L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2606335	NM_001010870.3(TDRD6):c.60C>G (p.Phe20Leu)	TDRD6 (F20L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239139	NM_001010870.3(TDRD6):c.86C>T (p.Pro29Leu)	TDRD6 (P29L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175517	NM_001010870.3(TDRD6):c.92A>C (p.Gln31Pro)	TDRD6 (Q31P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603156	NM_001010870.3(TDRD6):c.127T>A (p.Tyr43Asn)	TDRD6 (Y43N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378788	NM_001010870.3(TDRD6):c.134G>A (p.Arg45Gln)	TDRD6 (R45Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325145	NM_001010870.3(TDRD6):c.146A>G (p.Glu49Gly)	TDRD6 (E49G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302410	NM_001010870.3(TDRD6):c.194C>T (p.Ala65Val)	TDRD6 (A65V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226565	NM_001010870.3(TDRD6):c.203C>T (p.Ser68Leu)	TDRD6 (S68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266537	NM_001010870.3(TDRD6):c.214C>G (p.Leu72Val)	TDRD6 (L72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731042	NM_001010870.3(TDRD6):c.219C>T (p.Cys73=)	TDRD6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3175488	NM_001010870.3(TDRD6):c.243G>T (p.Trp81Cys)	TDRD6 (W81C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3344102	NM_001010870.3(TDRD6):c.254G>A (p.Arg85His)	TDRD6 (R85H)	Single nucleotide variant (missense variant)	TDRD6-related disorder	GUncertain significance
Select item 3325141	NM_001010870.3(TDRD6):c.266G>A (p.Arg89Gln)	TDRD6 (R89Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380035	NM_001010870.3(TDRD6):c.317C>T (p.Thr106Met)	TDRD6 (T106M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247862	NM_001010870.3(TDRD6):c.332C>T (p.Ser111Leu)	TDRD6 (S111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480317	NM_001010870.3(TDRD6):c.352G>A (p.Glu118Lys)	TDRD6 (E118K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408782	NM_001010870.3(TDRD6):c.367C>T (p.Pro123Ser)	TDRD6 (P123S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175497	NM_001010870.3(TDRD6):c.410C>A (p.Ala137Glu)	TDRD6 (A137E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656621	NM_001010870.3(TDRD6):c.451C>T (p.Pro151Ser)	TDRD6 (P151S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3175504	NM_001010870.3(TDRD6):c.476G>A (p.Ser159Asn)	TDRD6 (S159N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3357443	NM_001010870.3(TDRD6):c.484C>T (p.Gln162Ter)	TDRD6 (Q162*)	Single nucleotide variant (nonsense)	TDRD6-related disorder	GLikely benign
Select item 2559123	NM_001010870.3(TDRD6):c.494A>T (p.Glu165Val)	TDRD6 (E165V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388255	NM_001010870.3(TDRD6):c.517G>A (p.Val173Met)	TDRD6 (V173M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481826	NM_001010870.3(TDRD6):c.607A>T (p.Ser203Cys)	TDRD6 (S203C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386138	NM_001010870.3(TDRD6):c.616C>T (p.Arg206Cys)	TDRD6 (R206C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656622	NM_001010870.3(TDRD6):c.642A>G (p.Thr214=)	TDRD6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3175514	NM_001010870.3(TDRD6):c.685C>G (p.Arg229Gly)	TDRD6 (R229G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656623	NM_001010870.3(TDRD6):c.693G>A (p.Pro231=)	TDRD6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2401792	NM_001010870.3(TDRD6):c.710C>G (p.Pro237Arg)	TDRD6 (P237R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325137	NM_001010870.3(TDRD6):c.760G>T (p.Val254Leu)	TDRD6 (V254L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175515	NM_001010870.3(TDRD6):c.770C>G (p.Thr257Ser)	TDRD6 (T257S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344627	NM_001010870.3(TDRD6):c.809G>A (p.Arg270His)	TDRD6 (R270H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175516	NM_001010870.3(TDRD6):c.862C>T (p.Arg288Trp)	TDRD6 (R288W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377237	NM_001010870.3(TDRD6):c.869C>T (p.Ser290Phe)	TDRD6 (S290F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509663	NM_001010870.3(TDRD6):c.940G>T (p.Gly314Cys)	TDRD6 (G314C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374690	NM_001010870.3(TDRD6):c.967G>T (p.Asp323Tyr)	TDRD6 (D323Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339183	NM_001010870.3(TDRD6):c.1015C>T (p.Arg339Cys)	TDRD6 (R339C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656624	NM_001010870.3(TDRD6):c.1136A>G (p.Tyr379Cys)	TDRD6 (Y379C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2233670	NM_001010870.3(TDRD6):c.1138G>A (p.Gly380Arg)	TDRD6 (G380R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312642	NM_001010870.3(TDRD6):c.1141C>T (p.Leu381Phe)	TDRD6 (L381F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175479	NM_001010870.3(TDRD6):c.1159G>A (p.Gly387Ser)	TDRD6 (G387S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175480	NM_001010870.3(TDRD6):c.1165T>C (p.Ser389Pro)	TDRD6 (S389P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396452	NM_001010870.3(TDRD6):c.1169G>A (p.Arg390Gln)	TDRD6 (R390Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226032	NM_001010870.3(TDRD6):c.1176G>C (p.Gln392His)	TDRD6 (Q392H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175481	NM_001010870.3(TDRD6):c.1217A>G (p.Asn406Ser)	TDRD6 (N406S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325142	NM_001010870.3(TDRD6):c.1232T>C (p.Phe411Ser)	TDRD6 (F411S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546847	NM_001010870.3(TDRD6):c.1252G>A (p.Val418Met)	TDRD6 (V418M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524107	NM_001010870.3(TDRD6):c.1262T>C (p.Val421Ala)	TDRD6 (V421A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242695	NM_001010870.3(TDRD6):c.1265G>A (p.Ser422Asn)	TDRD6 (S422N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214470	NM_001010870.3(TDRD6):c.1298G>A (p.Arg433His)	TDRD6 (R433H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054214	NM_001010870.3(TDRD6):c.1319G>A (p.Cys440Tyr)	TDRD6 (C440Y)	Single nucleotide variant (missense variant)	TDRD6-related disorder	GLikely benign
Select item 2337356	NM_001010870.3(TDRD6):c.1322G>A (p.Cys441Tyr)	TDRD6 (C441Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525775	NM_001010870.3(TDRD6):c.1369C>T (p.Pro457Ser)	TDRD6 (P457S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238069	NM_001010870.3(TDRD6):c.1470T>G (p.Asp490Glu)	TDRD6 (D490E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245200	NM_001010870.3(TDRD6):c.1475A>T (p.Gln492Leu)	TDRD6 (Q492L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175482	NM_001010870.3(TDRD6):c.1529A>G (p.Asn510Ser)	TDRD6 (N510S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618131	NM_001010870.3(TDRD6):c.1535C>T (p.Thr512Ile)	TDRD6 (T512I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402045	NM_001010870.3(TDRD6):c.1571A>G (p.Tyr524Cys)	TDRD6 (Y524C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053361	NM_001010870.3(TDRD6):c.1592A>G (p.Asp531Gly)	TDRD6 (D531G)	Single nucleotide variant (missense variant)	TDRD6-related disorder	GLikely benign
Select item 2528344	NM_001010870.3(TDRD6):c.1610C>T (p.Pro537Leu)	TDRD6 (P537L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325133	NM_001010870.3(TDRD6):c.1648A>G (p.Asn550Asp)	TDRD6 (N550D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213408	NM_001010870.3(TDRD6):c.1649A>G (p.Asn550Ser)	TDRD6 (N550S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175483	NM_001010870.3(TDRD6):c.1668A>G (p.Ile556Met)	TDRD6 (I556M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2383156	NM_001010870.3(TDRD6):c.1704C>G (p.Phe568Leu)	TDRD6 (F568L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609328	NM_001010870.3(TDRD6):c.1721A>G (p.Asn574Ser)	TDRD6 (N574S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315487	NM_001010870.3(TDRD6):c.1744G>T (p.Asp582Tyr)	TDRD6 (D582Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407526	NM_001010870.3(TDRD6):c.1783A>G (p.Ile595Val)	TDRD6 (I595V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325139	NM_001010870.3(TDRD6):c.1811A>G (p.Asp604Gly)	TDRD6 (D604G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175484	NM_001010870.3(TDRD6):c.1849G>A (p.Val617Ile)	TDRD6 (V617I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3050329	NM_001010870.3(TDRD6):c.1857T>G (p.Phe619Leu)	TDRD6 (F619L)	Single nucleotide variant (missense variant)	TDRD6-related disorder	GLikely benign
Select item 2325999	NM_001010870.3(TDRD6):c.1865A>C (p.Lys622Thr)	TDRD6 (K622T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175485	NM_001010870.3(TDRD6):c.1868C>G (p.Thr623Ser)	TDRD6 (T623S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380540	NM_001010870.3(TDRD6):c.1868C>A (p.Thr623Asn)	TDRD6 (T623N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347099	NM_001010870.3(TDRD6):c.1895A>G (p.His632Arg)	TDRD6 (H632R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1676020	NM_001010870.3(TDRD6):c.1923T>G (p.Tyr641Ter)	TDRD6 (Y641*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3325135	NM_001010870.3(TDRD6):c.1924G>A (p.Val642Ile)	TDRD6 (V642I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325118	NM_001010870.3(TDRD6):c.1924G>C (p.Val642Leu)	TDRD6 (V642L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239247	NM_001010870.3(TDRD6):c.1940A>T (p.Asp647Val)	TDRD6 (D647V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484706	NM_001010870.3(TDRD6):c.1981G>C (p.Ala661Pro)	TDRD6 (A661P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175486	NM_001010870.3(TDRD6):c.2285C>T (p.Ser762Phe)	TDRD6 (S762F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218431	NM_001010870.3(TDRD6):c.2388A>C (p.Gln796His)	TDRD6 (Q796H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656625	NM_001010870.3(TDRD6):c.2403A>C (p.Leu801=)	TDRD6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3175487	NM_001010870.3(TDRD6):c.2423A>G (p.Tyr808Cys)	TDRD6 (Y808C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356525	NM_001010870.3(TDRD6):c.2427C>G (p.Cys809Trp)	TDRD6 (C809W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325119	NM_001010870.3(TDRD6):c.2643G>C (p.Arg881Ser)	TDRD6 (R881S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325123	NM_001010870.3(TDRD6):c.2657A>G (p.Asn886Ser)	TDRD6 (N886S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293216	NM_001010870.3(TDRD6):c.2765G>A (p.Cys922Tyr)	TDRD6 (C922Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542031	NM_001010870.3(TDRD6):c.2777C>T (p.Ala926Val)	TDRD6 (A926V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325130	NM_001010870.3(TDRD6):c.2825C>G (p.Thr942Ser)	TDRD6 (T942S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656626	NM_001010870.3(TDRD6):c.2826C>A (p.Thr942=)	TDRD6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2344788	NM_001010870.3(TDRD6):c.2927T>G (p.Phe976Cys)	TDRD6 (F976C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175489	NM_001010870.3(TDRD6):c.2930A>G (p.Tyr977Cys)	TDRD6 (Y977C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390480	NM_001010870.3(TDRD6):c.3050G>A (p.Cys1017Tyr)	TDRD6 (C1017Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325143	NM_001010870.3(TDRD6):c.3155G>C (p.Gly1052Ala)	TDRD6 (G1052A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175490	NM_001010870.3(TDRD6):c.3249T>G (p.Ser1083Arg)	TDRD6 (S1083R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293890	NM_001010870.3(TDRD6):c.3253G>A (p.Ala1085Thr)	TDRD6 (A1085T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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