ClinVar for Gene (Select 1306) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 198

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3268553	NM_001855.5(COL15A1):c.2245C>A (p.Gln749Lys)	COL15A1 (Q749K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268552	NM_001855.5(COL15A1):c.3515G>A (p.Gly1172Asp)	COL15A1 (G1172D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268551	NM_001855.5(COL15A1):c.3224A>G (p.Gln1075Arg)	COL15A1 (Q1075R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268550	NM_001855.5(COL15A1):c.3836A>G (p.Lys1279Arg)	COL15A1 (K1279R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268549	NM_001855.5(COL15A1):c.2998G>A (p.Glu1000Lys)	COL15A1 (E1000K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268548	NM_001855.5(COL15A1):c.590A>G (p.Glu197Gly)	COL15A1 (E197G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268547	NM_001855.5(COL15A1):c.199T>C (p.Tyr67His)	COL15A1 (Y67H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268546	NM_001855.5(COL15A1):c.2430T>G (p.His810Gln)	COL15A1 (H810Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268545	NM_001855.5(COL15A1):c.2269T>C (p.Ser757Pro)	COL15A1 (S757P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268544	NM_001855.5(COL15A1):c.1873G>C (p.Gly625Arg)	COL15A1 (G625R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268543	NM_001855.5(COL15A1):c.3578C>T (p.Ala1193Val)	COL15A1 (A1193V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268542	NM_001855.5(COL15A1):c.416C>T (p.Thr139Met)	COL15A1 (T139M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268541	NM_001855.5(COL15A1):c.2397G>T (p.Lys799Asn)	COL15A1 (K799N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147254	NM_001855.5(COL15A1):c.988G>C (p.Val330Leu)	COL15A1 (V330L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147253	NM_001855.5(COL15A1):c.91G>T (p.Gly31Cys)	COL15A1 (G31C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147252	NM_001855.5(COL15A1):c.873A>C (p.Glu291Asp)	COL15A1 (E291D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147251	NM_001855.5(COL15A1):c.805C>A (p.Pro269Thr)	COL15A1 (P269T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147250	NM_001855.5(COL15A1):c.774C>G (p.Ile258Met)	COL15A1 (I258M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147248	NM_001855.5(COL15A1):c.461T>G (p.Val154Gly)	COL15A1 (V154G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147247	NM_001855.5(COL15A1):c.3937A>G (p.Met1313Val)	COL15A1 (M1313V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147246	NM_001855.5(COL15A1):c.3502C>T (p.Arg1168Cys)	COL15A1 (R1168C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147245	NM_001855.5(COL15A1):c.3441A>T (p.Lys1147Asn)	COL15A1 (K1147N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147244	NM_001855.5(COL15A1):c.3344C>T (p.Ala1115Val)	COL15A1 (A1115V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147243	NM_001855.5(COL15A1):c.3214G>A (p.Val1072Ile)	COL15A1 (V1072I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3147242	NM_001855.5(COL15A1):c.3094G>A (p.Asp1032Asn)	COL15A1 (D1032N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147241	NM_001855.5(COL15A1):c.302G>C (p.Ser101Thr)	COL15A1 (S101T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147239	NM_001855.5(COL15A1):c.2827C>G (p.Pro943Ala)	COL15A1 (P943A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147238	NM_001855.5(COL15A1):c.2795G>T (p.Gly932Val)	COL15A1 (G932V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147237	NM_001855.5(COL15A1):c.2771G>A (p.Gly924Glu)	COL15A1 (G924E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147236	NM_001855.5(COL15A1):c.2702A>C (p.His901Pro)	COL15A1 (H901P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147235	NM_001855.5(COL15A1):c.2627G>T (p.Arg876Met)	COL15A1 (R876M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147234	NM_001855.5(COL15A1):c.2545C>T (p.Pro849Ser)	COL15A1 (P849S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147233	NM_001855.5(COL15A1):c.2437A>T (p.Met813Leu)	COL15A1 (M813L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147232	NM_001855.5(COL15A1):c.2218G>A (p.Glu740Lys)	COL15A1 (E740K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147231	NM_001855.5(COL15A1):c.2180G>A (p.Gly727Glu)	COL15A1 (G727E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147230	NM_001855.5(COL15A1):c.2014A>G (p.Thr672Ala)	COL15A1 (T672A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147229	NM_001855.5(COL15A1):c.1940C>G (p.Ser647Cys)	COL15A1 (S647C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147227	NM_001855.5(COL15A1):c.1904A>G (p.Lys635Arg)	COL15A1 (K635R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147226	NM_001855.5(COL15A1):c.1867C>T (p.Pro623Ser)	COL15A1 (P623S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147225	NM_001855.5(COL15A1):c.1730C>G (p.Pro577Arg)	COL15A1 (P577R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147224	NM_001855.5(COL15A1):c.1604C>T (p.Pro535Leu)	COL15A1 (P535L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147223	NM_001855.5(COL15A1):c.1486G>A (p.Glu496Lys)	COL15A1 (E496K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147222	NM_001855.5(COL15A1):c.1436G>T (p.Ser479Ile)	COL15A1 (S479I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147221	NM_001855.5(COL15A1):c.142G>A (p.Gly48Ser)	COL15A1 (G48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147219	NM_001855.5(COL15A1):c.1291G>A (p.Val431Met)	COL15A1 (V431M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147218	NM_001855.5(COL15A1):c.1126G>A (p.Glu376Lys)	COL15A1 (E376K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3060947	NM_001855.5(COL15A1):c.2514T>C (p.Gly838=)	COL15A1	Single nucleotide variant (synonymous variant)	COL15A1-related disorder	GBenign
Select item 3060796	NM_001855.5(COL15A1):c.1324G>A (p.Ala442Thr)	COL15A1 (A442T)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 3060795	NM_001855.5(COL15A1):c.610A>G (p.Met204Val)	COL15A1 (M204V)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 3060686	NM_001855.5(COL15A1):c.3387C>T (p.Pro1129=)	COL15A1	Single nucleotide variant (synonymous variant)	COL15A1-related disorder	GBenign
Select item 3060282	NM_001855.5(COL15A1):c.952+9G>A	COL15A1	Single nucleotide variant (intron variant)	COL15A1-related disorder	GBenign
Select item 3060210	NM_001855.5(COL15A1):c.3994G>A (p.Val1332Ile)	COL15A1 (V1332I)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 3060205	NM_001855.5(COL15A1):c.488G>A (p.Arg163His)	COL15A1 (R163H)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 3060090	NM_001855.5(COL15A1):c.1336G>A (p.Gly446Arg)	COL15A1 (G446R)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 3059706	NM_001855.5(COL15A1):c.2949C>T (p.His983=)	COL15A1	Single nucleotide variant (synonymous variant)	COL15A1-related disorder	GLikely benign
Select item 3059690	NM_001855.5(COL15A1):c.1266G>A (p.Met422Ile)	COL15A1 (M422I)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 3059549	NM_001855.5(COL15A1):c.1511G>T (p.Gly504Val)	COL15A1 (G504V)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 3059283	NM_001855.5(COL15A1):c.1761+6A>G	COL15A1	Single nucleotide variant (intron variant)	COL15A1-related disorder	GBenign
Select item 3059169	NM_001855.5(COL15A1):c.1762-6T>C	COL15A1	Single nucleotide variant (intron variant)	COL15A1-related disorder	GBenign
Select item 3056690	NM_001855.5(COL15A1):c.139A>G (p.Ile47Val)	COL15A1 (I47V)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 3056651	NM_001855.5(COL15A1):c.1592C>G (p.Pro531Arg)	COL15A1 (P531R)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 3056336	NM_001855.5(COL15A1):c.1518A>C (p.Glu506Asp)	COL15A1 (E506D)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 3055678	NM_001855.5(COL15A1):c.2551T>C (p.Phe851Leu)	COL15A1 (F851L)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 3052964	NM_001855.5(COL15A1):c.1933C>T (p.Pro645Ser)	COL15A1 (P645S)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 3052654	NM_001855.5(COL15A1):c.2373G>A (p.Pro791=)	COL15A1	Single nucleotide variant (synonymous variant)	COL15A1-related disorder	GLikely benign
Select item 3051449	NM_001855.5(COL15A1):c.2415G>A (p.Leu805=)	COL15A1	Single nucleotide variant (synonymous variant)	COL15A1-related disorder	GLikely benign
Select item 3050547	NM_001855.5(COL15A1):c.780A>G (p.Glu260=)	COL15A1	Single nucleotide variant (synonymous variant)	COL15A1-related disorder	GLikely benign
Select item 3050418	NM_001855.5(COL15A1):c.3204G>A (p.Gly1068=)	COL15A1	Single nucleotide variant (synonymous variant)	COL15A1-related disorder	GBenign
Select item 3050411	NM_001855.5(COL15A1):c.3632C>T (p.Ala1211Val)	COL15A1 (A1211V)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 3049507	NM_001855.5(COL15A1):c.171T>C (p.Phe57=)	COL15A1	Single nucleotide variant (synonymous variant)	COL15A1-related disorder	GLikely benign
Select item 3049167	NM_001855.5(COL15A1):c.3443C>T (p.Ala1148Val)	COL15A1 (A1148V)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 3048016	NM_001855.5(COL15A1):c.75T>C (p.Ala25=)	COL15A1	Single nucleotide variant (synonymous variant)	COL15A1-related disorder	GLikely benign
Select item 3047570	NM_001855.5(COL15A1):c.2951G>C (p.Gly984Ala)	COL15A1 (G984A)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GLikely benign
Select item 3046964	NM_001855.5(COL15A1):c.1762-9T>C	COL15A1	Single nucleotide variant (intron variant)	COL15A1-related disorder	GLikely benign
Select item 3046387	NM_001855.5(COL15A1):c.1023C>T (p.Ser341=)	COL15A1	Single nucleotide variant (synonymous variant)	COL15A1-related disorder	GLikely benign
Select item 3045785	NM_001855.5(COL15A1):c.3140G>A (p.Gly1047Asp)	COL15A1 (G1047D)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GLikely benign
Select item 3045360	NM_001855.5(COL15A1):c.3444G>A (p.Ala1148=)	COL15A1	Single nucleotide variant (synonymous variant)	COL15A1-related disorder	GLikely benign
Select item 3044650	NM_001855.5(COL15A1):c.2484C>T (p.Asp828=)	COL15A1	Single nucleotide variant (synonymous variant)	COL15A1-related disorder	GLikely benign
Select item 3044600	NM_001855.5(COL15A1):c.852C>G (p.Ser284=)	COL15A1	Single nucleotide variant (synonymous variant)	COL15A1-related disorder	GBenign
Select item 3044072	NM_001855.5(COL15A1):c.1332C>T (p.Ser444=)	COL15A1	Single nucleotide variant (synonymous variant)	COL15A1-related disorder	GBenign
Select item 3043961	NM_001855.5(COL15A1):c.2966A>G (p.Lys989Arg)	COL15A1 (K989R)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 3043766	NM_001855.5(COL15A1):c.670G>A (p.Val224Met)	COL15A1 (V224M)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 3043699	NM_001855.5(COL15A1):c.571T>C (p.Ser191Pro)	COL15A1 (S191P)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 3042519	NM_001855.5(COL15A1):c.1979C>A (p.Pro660Gln)	COL15A1 (P660Q)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 3042058	NM_001855.5(COL15A1):c.3002A>G (p.Lys1001Arg)	COL15A1 (K1001R)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 3041458	NM_001855.5(COL15A1):c.693C>T (p.Pro231=)	COL15A1	Single nucleotide variant (synonymous variant)	COL15A1-related disorder	GLikely benign
Select item 3041091	NM_001855.5(COL15A1):c.3402+10A>G	COL15A1	Single nucleotide variant (intron variant)	COL15A1-related disorder	GLikely benign
Select item 3040904	NM_001855.5(COL15A1):c.1789C>T (p.Leu597=)	COL15A1	Single nucleotide variant (synonymous variant)	COL15A1-related disorder	GLikely benign
Select item 3038890	NM_001855.5(COL15A1):c.3934A>C (p.Ile1312Leu)	COL15A1 (I1312L)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 3037756	NM_001855.5(COL15A1):c.3360T>C (p.Pro1120=)	COL15A1	Single nucleotide variant (synonymous variant)	COL15A1-related disorder	GLikely benign
Select item 3034011	NM_001855.5(COL15A1):c.207C>T (p.Phe69=)	COL15A1	Single nucleotide variant (synonymous variant)	COL15A1-related disorder	GLikely benign
Select item 3033567	NM_001855.5(COL15A1):c.100+9C>A	COL15A1	Single nucleotide variant (intron variant)	COL15A1-related disorder	GLikely benign
Select item 3033343	NM_001855.5(COL15A1):c.273C>T (p.Phe91=)	COL15A1	Single nucleotide variant (synonymous variant)	COL15A1-related disorder	GLikely benign
Select item 3033326	NM_001855.5(COL15A1):c.2140C>T (p.Pro714Ser)	COL15A1 (P714S)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GLikely benign
Select item 3031774	NM_001855.5(COL15A1):c.286G>A (p.Val96Met)	COL15A1 (V96M)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GLikely benign
Select item 3030872	NM_001855.5(COL15A1):c.1249G>A (p.Glu417Lys)	COL15A1 (E417K)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GLikely benign
Select item 2673184	NM_001855.5(COL15A1):c.2114C>T (p.Pro705Leu)	COL15A1 (P705L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic
Select item 2659350	NM_001855.5(COL15A1):c.3912A>G (p.Ile1304Met)	COL15A1 (I1304M)	Single nucleotide variant (missense variant)	not provided	GLikely benign

<< First< Prev

Page of 2