CHD1L[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1257845	NM_001348451.2(CHD1L):c.-89-10182G>T	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268291	NM_004284.6(CHD1L):c.128-337C>T	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229631	NM_004284.6(CHD1L):c.128-275A>G	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238340	NM_004284.6(CHD1L):c.128-185=	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3266833	NM_004284.6(CHD1L):c.139C>T (p.Arg47Cys)	CHD1L (R47C)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3040828	NM_004284.6(CHD1L):c.171C>T (p.Leu57=)	CHD1L	Single nucleotide variant (5 prime UTR variant +3 more)	CHD1L-related disorder	GLikely benign
Select item 3144093	NM_004284.6(CHD1L):c.226G>T (p.Gly76Trp)	CHD1L (W11C +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 625178	NM_004284.6(CHD1L):c.234C>T (p.Thr78=)	CHD1L (P14L)	Single nucleotide variant (missense variant +4 more)	Abnormality of the urinary system	GUncertain significance
Select item 3144095	NM_004284.6(CHD1L):c.236G>T (p.Cys79Phe)	CHD1L (C7F +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1229578	NM_004284.6(CHD1L):c.240+18G>A	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282587	NM_004284.6(CHD1L):c.241-349T>C	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2461451	NM_004284.6(CHD1L):c.307C>T (p.Pro103Ser)	CHD1L (P31S +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1295105	NM_004284.6(CHD1L):c.347+215G>A	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262074	NM_004284.6(CHD1L):c.348-340C>T	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182323	NM_004284.6(CHD1L):c.348-290G>A	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183775	NM_004284.6(CHD1L):c.348-255T>C	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258079	NM_004284.6(CHD1L):c.348-80G>T	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2232578	NM_004284.6(CHD1L):c.413A>C (p.Gln138Pro)	CHD1L (Q66P +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2342689	NM_004284.6(CHD1L):c.433C>T (p.Arg145Cys)	CHD1L (R73C +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3266829	NM_004284.6(CHD1L):c.458A>T (p.Tyr153Phe)	CHD1L (Y153F +4 more)	Single nucleotide variant (missense variant +4 more)	not specified	GUncertain significance
Select item 1213806	NM_004284.6(CHD1L):c.459T>G (p.Tyr153Ter)	CHD1L (M1R +4 more)	Single nucleotide variant (nonsense +5 more)	not provided	GUncertain significance
Select item 1180289	NM_004284.6(CHD1L):c.462+11G>A	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263756	NM_004284.6(CHD1L):c.462+181G>A	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224272	NM_004284.6(CHD1L):c.463-37A>G	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288424	NM_004284.6(CHD1L):c.463-22dup	CHD1L	Duplication (intron variant)	not provided	GBenign
Select item 2588813	NM_004284.6(CHD1L):c.463A>T (p.Ile155Phe)	CHD1L (I55F +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 783295	NM_004284.6(CHD1L):c.495-4dup	CHD1L	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1282414	NM_004284.6(CHD1L):c.576+241C>T	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278632	NM_004284.6(CHD1L):c.576+250=	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260518	NM_004284.6(CHD1L):c.577-270T>C	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2604277	NM_004284.6(CHD1L):c.587T>C (p.Val196Ala)	CHD1L (V196A +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1288485	NM_004284.6(CHD1L):c.588C>T (p.Val196=)	CHD1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign
Select item 2406030	NM_004284.6(CHD1L):c.605C>T (p.Thr202Ile)	CHD1L (T130I +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 733960	NM_004284.6(CHD1L):c.606C>T (p.Thr202=)	CHD1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign
Select item 3144100	NM_004284.6(CHD1L):c.608G>C (p.Gly203Ala)	CHD1L (G90A +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2263789	NM_004284.6(CHD1L):c.624C>G (p.Asn208Lys)	CHD1L (N45K +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3266827	NM_004284.6(CHD1L):c.641A>G (p.Tyr214Cys)	CHD1L (Y101C +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3144101	NM_004284.6(CHD1L):c.665C>T (p.Pro222Leu)	CHD1L (P122L +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2688769	NM_004284.6(CHD1L):c.676dup (p.Ser226fs)	CHD1L (S113fs +5 more)	Duplication (frameshift variant +3 more)	not provided	GUncertain significance
Select item 787856	NM_004284.6(CHD1L):c.672C>G (p.Leu224=)	CHD1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign
Select item 224340	NM_004284.6(CHD1L):c.707G>A (p.Arg236His)	CHD1L (R236H +5 more)	Single nucleotide variant (missense variant +3 more)	Congenital anomaly of kidney and urinary tract +1 more	GUncertain significance
Select item 2264156	NM_004284.6(CHD1L):c.719T>C (p.Ile240Thr)	CHD1L (I240T +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1223909	NM_004284.6(CHD1L):c.739+305G>T	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229522	NM_004284.6(CHD1L):c.740-248A>C	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286369	NM_004284.6(CHD1L):c.740-234G>T	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250104	NM_004284.6(CHD1L):c.740-101G>C	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2688770	NM_004284.6(CHD1L):c.762G>T (p.Leu254Phe)	CHD1L (L102F +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2672346	NM_004284.6(CHD1L):c.812C>T (p.Pro271Leu)	CHD1L (P108L +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2619866	NM_004284.6(CHD1L):c.829G>A (p.Val277Met)	CHD1L (V114M +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 279755	NM_004284.6(CHD1L):c.834A>G (p.Ile278Met)	CHD1L (I278M +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3144102	NM_004284.6(CHD1L):c.835T>C (p.Tyr279His)	CHD1L (Y116H +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3057589	NM_004284.6(CHD1L):c.849A>C (p.Ser283=)	CHD1L	Single nucleotide variant (synonymous variant +1 more)	CHD1L-related disorder	GBenign
Select item 2257254	NM_004284.6(CHD1L):c.869A>G (p.Tyr290Cys)	CHD1L (Y138C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3050965	NM_004284.6(CHD1L):c.896-10del	CHD1L	Deletion (intron variant)	CHD1L-related disorder	GLikely benign
Select item 1233082	NM_004284.6(CHD1L):c.896-17T>C	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3042114	NM_004284.6(CHD1L):c.896-10T>A	CHD1L	Single nucleotide variant (intron variant)	CHD1L-related disorder	GLikely benign
Select item 2341263	NM_004284.6(CHD1L):c.983T>G (p.Phe328Cys)	CHD1L (F124C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1239605	NM_004284.6(CHD1L):c.988+100=	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3266830	NM_004284.6(CHD1L):c.997C>A (p.Pro333Thr)	CHD1L (P233T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1297440	NM_004284.6(CHD1L):c.1050C>G (p.His350Gln)	CHD1L (H146Q +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2290540	NM_004284.6(CHD1L):c.1081T>C (p.Ser361Pro)	CHD1L (S209P +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1249102	NM_004284.6(CHD1L):c.1085+39=	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228613	NM_004284.6(CHD1L):c.1086-242=	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 504321	NM_004284.6(CHD1L):c.1086-2A>C	CHD1L	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3266832	NM_004284.6(CHD1L):c.1093C>T (p.Arg365Trp)	CHD1L (R202W +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 872437	NM_004284.6(CHD1L):c.1097T>C (p.Val366Ala)	CHD1L (V266A +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1252472	NM_004284.6(CHD1L):c.1159+252G>A	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287571	NM_004284.6(CHD1L):c.1160-221=	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 981853	NM_004284.6(CHD1L):c.1256T>C (p.Leu419Pro)	CHD1L (L138P +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3048436	NM_004284.6(CHD1L):c.1259G>A (p.Ser420Asn)	CHD1L (S139N +7 more)	Single nucleotide variant (missense variant +1 more)	CHD1L-related disorder	GUncertain significance
Select item 1259991	NM_004284.6(CHD1L):c.1271-125G>A	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3050020	NM_004284.6(CHD1L):c.1323T>C (p.Ser441=)	CHD1L	Single nucleotide variant (synonymous variant +1 more)	CHD1L-related disorder	GBenign
Select item 2549978	NM_004284.6(CHD1L):c.1337A>G (p.Gln446Arg)	CHD1L (Q333R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1259459	NM_004284.6(CHD1L):c.1385+22=	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223663	NM_004284.6(CHD1L):c.1385+101=	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231579	NM_004284.6(CHD1L):c.1385+288G>T	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269739	NM_004284.6(CHD1L):c.1386-307_1386-305dup	CHD1L	Duplication (intron variant)	not provided	GBenign
Select item 1295050	NM_004284.6(CHD1L):c.1386-307_1386-306dup	CHD1L	Duplication (intron variant)	not provided	GBenign
Select item 1182320	NM_004284.6(CHD1L):c.1386-307dup	CHD1L	Duplication (intron variant)	not provided	GBenign
Select item 1276533	NM_004284.6(CHD1L):c.1386-307G>A	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3053379	NM_004284.6(CHD1L):c.1386-2A>G	CHD1L	Single nucleotide variant (splice acceptor variant)	CHD1L-related disorder	GLikely benign
Select item 3266837	NM_004284.6(CHD1L):c.1402C>G (p.Arg468Gly)	CHD1L (R355G +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366920	NM_004284.6(CHD1L):c.1415G>A (p.Arg472Gln)	CHD1L (R191Q +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597839	NM_004284.6(CHD1L):c.1469C>T (p.Thr490Ile)	CHD1L (T286I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144087	NM_004284.6(CHD1L):c.1519G>A (p.Ala507Thr)	CHD1L (A226T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1287237	NM_004284.6(CHD1L):c.1539+85_1539+87del	CHD1L	Deletion (intron variant)	not provided	GBenign
Select item 1275880	NM_004284.6(CHD1L):c.1539+146=	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242638	NM_004284.6(CHD1L):c.1540-289C>A	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1606025	NM_004284.6(CHD1L):c.1551A>G (p.Ile517Met)	CHD1L (I236M +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2382383	NM_004284.6(CHD1L):c.1595C>T (p.Thr532Ile)	CHD1L (T328I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549845	NM_004284.6(CHD1L):c.1597A>G (p.Met533Val)	CHD1L (M433V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 738609	NM_004284.6(CHD1L):c.1598T>C (p.Met533Thr)	CHD1L (M252T +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 773113	NM_004284.6(CHD1L):c.1623C>A (p.Ile541=)	CHD1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3051539	NM_004284.6(CHD1L):c.1647G>A (p.Gln549=)	CHD1L	Single nucleotide variant (synonymous variant +1 more)	CHD1L-related disorder	GLikely benign
Select item 1236115	NM_004284.6(CHD1L):c.1706-240A>G	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3031878	NM_004284.6(CHD1L):c.1706-6del	CHD1L	Deletion (intron variant)	CHD1L-related disorder	GLikely benign
Select item 2305146	NM_004284.6(CHD1L):c.1706A>G (p.Lys569Arg)	CHD1L (K456R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144089	NM_004284.6(CHD1L):c.1723T>C (p.Phe575Leu)	CHD1L (F412L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209513	NM_004284.6(CHD1L):c.1781A>C (p.Gln594Pro)	CHD1L (Q522P +7 more)	Single nucleotide variant (missense variant +1 more)	CHD1L-related disorder +1 more	GUncertain significance
Select item 2633817	NM_004284.6(CHD1L):c.1782A>T (p.Gln594His)	CHD1L (Q313H +7 more)	Single nucleotide variant (missense variant +1 more)	CHD1L-related disorder	GUncertain significance

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