ClinVar for Gene (Select 131873) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3147796	NM_001102608.3(COL6A6):c.901C>T (p.Pro301Ser)	COL6A6 (P301S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147795	NM_001102608.3(COL6A6):c.809T>C (p.Leu270Pro)	COL6A6 (L270P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147794	NM_001102608.3(COL6A6):c.733T>A (p.Phe245Ile)	COL6A6 (F245I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147793	NM_001102608.3(COL6A6):c.6613C>T (p.Leu2205Phe)	COL6A6 (L2205F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147792	NM_001102608.3(COL6A6):c.65G>A (p.Gly22Asp)	COL6A6 (G22D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147791	NM_001102608.3(COL6A6):c.6454C>T (p.His2152Tyr)	COL6A6 (H2152Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147790	NM_001102608.3(COL6A6):c.6076A>G (p.Lys2026Glu)	COL6A6 (K2026E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147789	NM_001102608.3(COL6A6):c.5782G>A (p.Asp1928Asn)	COL6A6 (D1928N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147787	NM_001102608.3(COL6A6):c.5722C>G (p.Arg1908Gly)	COL6A6 (R1908G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147786	NM_001102608.3(COL6A6):c.5677A>G (p.Ile1893Val)	COL6A6 (I1893V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147785	NM_001102608.3(COL6A6):c.559C>T (p.Arg187Trp)	COL6A6 (R187W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147784	NM_001102608.3(COL6A6):c.5599G>T (p.Ala1867Ser)	COL6A6 (A1867S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147783	NM_001102608.3(COL6A6):c.5525T>C (p.Ile1842Thr)	COL6A6 (I1842T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147782	NM_001102608.3(COL6A6):c.5519G>A (p.Arg1840Lys)	COL6A6 (R1840K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147781	NM_001102608.3(COL6A6):c.5504G>T (p.Arg1835Ile)	COL6A6 (R1835I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147780	NM_001102608.3(COL6A6):c.5476A>G (p.Arg1826Gly)	COL6A6 (R1826G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147779	NM_001102608.3(COL6A6):c.5432A>T (p.His1811Leu)	COL6A6 (H1811L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147778	NM_001102608.3(COL6A6):c.531G>T (p.Met177Ile)	COL6A6 (M177I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147777	NM_001102608.3(COL6A6):c.5318T>G (p.Phe1773Cys)	COL6A6 (F1773C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147776	NM_001102608.3(COL6A6):c.5240G>A (p.Gly1747Glu)	COL6A6 (G1747E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147775	NM_001102608.3(COL6A6):c.4967G>A (p.Gly1656Asp)	COL6A6 (G1656D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147774	NM_001102608.3(COL6A6):c.4894C>A (p.Leu1632Met)	COL6A6 (L1632M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147772	NM_001102608.3(COL6A6):c.4729T>A (p.Ser1577Thr)	COL6A6 (S1577T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147771	NM_001102608.3(COL6A6):c.4588C>T (p.Arg1530Cys)	COL6A6 (R1530C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147770	NM_001102608.3(COL6A6):c.4348A>C (p.Asn1450His)	COL6A6 (N1450H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147769	NM_001102608.3(COL6A6):c.41A>T (p.His14Leu)	COL6A6 (H14L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147768	NM_001102608.3(COL6A6):c.400A>G (p.Ile134Val)	COL6A6 (I134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147767	NM_001102608.3(COL6A6):c.3703A>G (p.Thr1235Ala)	COL6A6 (T1235A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147766	NM_001102608.3(COL6A6):c.3627G>T (p.Trp1209Cys)	COL6A6 (W1209C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147765	NM_001102608.3(COL6A6):c.361G>A (p.Ala121Thr)	COL6A6 (A121T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147764	NM_001102608.3(COL6A6):c.3541G>A (p.Glu1181Lys)	COL6A6 (E1181K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147763	NM_001102608.3(COL6A6):c.3536C>T (p.Ala1179Val)	COL6A6 (A1179V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147762	NM_001102608.3(COL6A6):c.3500T>C (p.Val1167Ala)	COL6A6 (V1167A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147761	NM_001102608.3(COL6A6):c.323G>A (p.Gly108Glu)	COL6A6 (G108E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147760	NM_001102608.3(COL6A6):c.3149C>T (p.Pro1050Leu)	COL6A6 (P1050L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147759	NM_001102608.3(COL6A6):c.3085G>A (p.Asp1029Asn)	COL6A6 (D1029N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147758	NM_001102608.3(COL6A6):c.2990A>G (p.Asp997Gly)	COL6A6 (D997G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147757	NM_001102608.3(COL6A6):c.2845G>A (p.Asp949Asn)	COL6A6 (D949N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147756	NM_001102608.3(COL6A6):c.2657C>T (p.Thr886Ile)	COL6A6 (T886I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147755	NM_001102608.3(COL6A6):c.2563G>C (p.Asp855His)	COL6A6 (D855H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147754	NM_001102608.3(COL6A6):c.2472G>C (p.Glu824Asp)	COL6A6 (E824D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147753	NM_001102608.3(COL6A6):c.2410C>T (p.Arg804Trp)	COL6A6 (R804W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147752	NM_001102608.3(COL6A6):c.2236C>T (p.Arg746Trp)	COL6A6 (R746W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147751	NM_001102608.3(COL6A6):c.2204A>G (p.Gln735Arg)	COL6A6 (Q735R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147750	NM_001102608.3(COL6A6):c.2119T>A (p.Phe707Ile)	COL6A6 (F707I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147749	NM_001102608.3(COL6A6):c.2090A>G (p.Gln697Arg)	COL6A6 (Q697R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147747	NM_001102608.3(COL6A6):c.2065A>G (p.Ile689Val)	COL6A6 (I689V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147746	NM_001102608.3(COL6A6):c.2050G>A (p.Asp684Asn)	COL6A6 (D684N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147745	NM_001102608.3(COL6A6):c.2030A>C (p.Asn677Thr)	COL6A6 (N677T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147744	NM_001102608.3(COL6A6):c.1859A>C (p.Lys620Thr)	COL6A6 (K620T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147743	NM_001102608.3(COL6A6):c.1855A>G (p.Met619Val)	COL6A6 (M619V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147742	NM_001102608.3(COL6A6):c.1832G>C (p.Cys611Ser)	COL6A6 (C611S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047274	NM_001102608.3(COL6A6):c.3386G>A (p.Gly1129Asp)	COL6A6 (G1129D)	Single nucleotide variant (missense variant)	COL6A6-related condition	GLikely benign
Select item 2688852	NM_001102608.3(COL6A6):c.5587dup (p.Thr1863fs)	COL6A6 (T1863fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2654144	NM_001102608.3(COL6A6):c.6237G>A (p.Leu2079=)	COL6A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654143	NM_001102608.3(COL6A6):c.6060C>T (p.Phe2020=)	COL6A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654142	NM_001102608.3(COL6A6):c.5920C>T (p.Arg1974Trp)	COL6A6 (R1974W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2654141	NM_001102608.3(COL6A6):c.4257A>T (p.Gly1419=)	COL6A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654140	NM_001102608.3(COL6A6):c.3243T>G (p.Ala1081=)	COL6A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654139	NM_001102608.3(COL6A6):c.2227G>A (p.Val743Ile)	COL6A6 (V743I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2654138	NM_001102608.3(COL6A6):c.1370C>T (p.Thr457Met)	COL6A6 (T457M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2654137	NM_001102608.3(COL6A6):c.471C>T (p.Asp157=)	COL6A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636936	NM_001102608.3(COL6A6):c.3547+2dup	COL6A6	Duplication (splice donor variant)	COL6A6-related condition	GUncertain significance
Select item 2617813	NM_001102608.3(COL6A6):c.5921G>A (p.Arg1974Gln)	COL6A6 (R1974Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614235	NM_001102608.3(COL6A6):c.364C>T (p.Pro122Ser)	COL6A6 (P122S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613424	NM_001102608.3(COL6A6):c.1075G>C (p.Gly359Arg)	COL6A6 (G359R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607215	NM_001102608.3(COL6A6):c.5369G>A (p.Arg1790Gln)	COL6A6 (R1790Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604650	NM_001102608.3(COL6A6):c.3644A>C (p.Gln1215Pro)	COL6A6 (Q1215P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597723	NM_001102608.3(COL6A6):c.3238G>A (p.Gly1080Ser)	COL6A6 (G1080S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595226	NM_001102608.3(COL6A6):c.2084T>C (p.Ile695Thr)	COL6A6 (I695T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595219	NM_001102608.3(COL6A6):c.1973G>A (p.Arg658Gln)	COL6A6 (R658Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594425	NM_001102608.3(COL6A6):c.2540G>A (p.Arg847Gln)	COL6A6 (R847Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593859	NM_001102608.3(COL6A6):c.4817G>A (p.Gly1606Glu)	COL6A6 (G1606E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590860	NM_001102608.3(COL6A6):c.3514G>A (p.Val1172Ile)	COL6A6 (V1172I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588805	NM_001102608.3(COL6A6):c.6034C>G (p.Leu2012Val)	COL6A6 (L2012V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563254	NM_001102608.3(COL6A6):c.193C>T (p.Arg65Cys)	COL6A6 (R65C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559765	NM_001102608.3(COL6A6):c.6085G>T (p.Val2029Phe)	COL6A6 (V2029F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557822	NM_001102608.3(COL6A6):c.3998T>C (p.Leu1333Pro)	COL6A6 (L1333P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555812	NM_001102608.3(COL6A6):c.2824C>A (p.Leu942Ile)	COL6A6 (L942I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551093	NM_001102608.3(COL6A6):c.898T>C (p.Ser300Pro)	COL6A6 (S300P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549933	NM_001102608.3(COL6A6):c.5425G>T (p.Ala1809Ser)	COL6A6 (A1809S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549205	NM_001102608.3(COL6A6):c.6758G>A (p.Arg2253Lys)	COL6A6 (R2253K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2531954	NM_001102608.3(COL6A6):c.2599G>A (p.Gly867Ser)	COL6A6 (G867S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524582	NM_001102608.3(COL6A6):c.4856G>A (p.Arg1619His)	COL6A6 (R1619H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2521411	NM_001102608.3(COL6A6):c.4207C>A (p.Pro1403Thr)	COL6A6 (P1403T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519772	NM_001102608.3(COL6A6):c.2422T>G (p.Leu808Val)	COL6A6 (L808V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512465	NM_001102608.3(COL6A6):c.463C>T (p.Arg155Trp)	COL6A6 (R155W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509415	NM_001102608.3(COL6A6):c.5266A>G (p.Thr1756Ala)	COL6A6 (T1756A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508367	NM_001102608.3(COL6A6):c.3176G>A (p.Gly1059Asp)	COL6A6 (G1059D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495069	NM_001102608.3(COL6A6):c.2780A>T (p.Asp927Val)	COL6A6 (D927V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494483	NM_001102608.3(COL6A6):c.1717A>G (p.Lys573Glu)	COL6A6 (K573E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491668	NM_001102608.3(COL6A6):c.5825G>A (p.Cys1942Tyr)	COL6A6 (C1942Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485080	NM_001102608.3(COL6A6):c.5083G>A (p.Gly1695Ser)	COL6A6 (G1695S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474751	NM_001102608.3(COL6A6):c.6055G>A (p.Asp2019Asn)	COL6A6 (D2019N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2471009	NM_001102608.3(COL6A6):c.5983T>C (p.Phe1995Leu)	COL6A6 (F1995L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467835	NM_001102608.3(COL6A6):c.472G>A (p.Gly158Arg)	COL6A6 (G158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467721	NM_001102608.3(COL6A6):c.2031C>A (p.Asn677Lys)	COL6A6 (N677K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466253	NM_001102608.3(COL6A6):c.470A>T (p.Asp157Val)	COL6A6 (D157V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464398	NM_001102608.3(COL6A6):c.5776G>A (p.Gly1926Arg)	COL6A6 (G1926R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459218	NM_001102608.3(COL6A6):c.6496A>G (p.Ile2166Val)	COL6A6 (I2166V)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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