"GeneDx"[submitter] AND "CHD1L"[gene] - ClinVar

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Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58089	GRCh38/hg38 1q21.1-21.2(chr1:143965076-149471555)x3	ACP6, ANKRD34A +168 more	Copy number gain	See cases	GPathogenic
Select item 59351	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	ACP6, ANKRD34A +153 more	Copy number gain	See cases	GPathogenic
Select item 59349	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	ACP6, ANKRD34A +153 more	Copy number gain	See cases	GPathogenic
Select item 59337	GRCh38/hg38 1q21.1-21.2(chr1:145215697-148492647)x3	ACP6, ANKRD34A +129 more	Copy number gain	See cases	GPathogenic
Select item 146027	GRCh38/hg38 1q21.1-21.2(chr1:145338382-148599763)x3	ACP6, ANKRD34A +129 more	Copy number gain	See cases	GPathogenic
Select item 144787	GRCh38/hg38 1q21.1-21.2(chr1:146354110-148503773)x1	ACP6, BCL9 +58 more	Copy number loss	See cases	GPathogenic
Select item 146019	GRCh38/hg38 1q21.1-21.2(chr1:146355224-148494171)x3	ACP6, BCL9 +57 more	Copy number gain	See cases	GPathogenic
Select item 59866	GRCh38/hg38 1q21.1(chr1:146987841-148234205)x1	ACP6, BCL9 +38 more	Copy number loss	See cases	GPathogenic
Select item 59857	GRCh38/hg38 1q21.1-21.2(chr1:146987841-149343657)x1	LOC129931369, MIR5087 +69 more	Copy number loss	See cases	GPathogenic
Select item 1257845	NM_001348451.2(CHD1L):c.-89-10182G>T	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245929	NM_001348451.2(CHD1L):c.-89-10060C>T	CHD1L, LOC129931354	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230970	NM_001348451.2(CHD1L):c.-89-10018=	CHD1L, LOC129931354	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297886	NM_001348451.2(CHD1L):c.-89-9992=	CHD1L, LOC129931354	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273099	NM_004284.6(CHD1L):c.39C>T (p.Ala13=)	CHD1L, LOC129931354	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GBenign
Select item 1236962	NM_004284.6(CHD1L):c.39= (p.Ala13=)	CHD1L, LOC129931354	Single nucleotide variant (no sequence alteration +2 more)	not provided	GBenign
Select item 1260082	NM_004284.6(CHD1L):c.74G>C (p.Arg25Pro)	CHD1L, LOC129931354 (R25P)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GBenign
Select item 1289380	NM_004284.6(CHD1L):c.127+108=	CHD1L, LOC129931354	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 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 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 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 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 1288485	NM_004284.6(CHD1L):c.588C>T (p.Val196=)	CHD1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign
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 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 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 1233082	NM_004284.6(CHD1L):c.896-17T>C	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239605	NM_004284.6(CHD1L):c.988+100=	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 1259991	NM_004284.6(CHD1L):c.1271-125G>A	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1236115	NM_004284.6(CHD1L):c.1706-240A>G	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 373203	NM_004284.6(CHD1L):c.1832G>A (p.Arg611Gln)	CHD1L (R611Q +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1233319	NM_004284.6(CHD1L):c.1854+53del	CHD1L	Deletion (intron variant)	not provided	GBenign
Select item 1174451	NM_004284.6(CHD1L):c.1854+224=	CHD1L	Variation (intron variant)	not provided	GBenign
Select item 1247189	NM_004284.6(CHD1L):c.2019-256=	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231045	NM_004284.6(CHD1L):c.2019-52G>A	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 451492	NM_004284.6(CHD1L):c.2117A>G (p.Glu706Gly)	CHD1L (E706G +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 423976	NM_004284.6(CHD1L):c.2179C>A (p.Pro727Thr)	CHD1L (P727T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1269040	NM_004284.6(CHD1L):c.2221+198A>T	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220934	NM_004284.6(CHD1L):c.2222-8T>C	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261913	NM_004284.6(CHD1L):c.2228C>G (p.Ser743Cys)	CHD1L (S462C +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 783296	NM_004284.6(CHD1L):c.2277C>T (p.Ser759=)	CHD1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1238606	NM_004284.6(CHD1L):c.2320+116=	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278498	NM_004284.6(CHD1L):c.2321-299=	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220744	NM_004284.6(CHD1L):c.2321-180A>C	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240913	NM_004284.6(CHD1L):c.2321-179G>A	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244523	NM_004284.6(CHD1L):c.2321-75=	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 452336	NM_004284.6(CHD1L):c.2386G>T (p.Asp796Tyr)	CHD1L (D796Y +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1174298	NM_004284.6(CHD1L):c.2391+181=	CHD1L	Variation (intron variant)	not provided	GBenign
Select item 1260069	NM_004284.6(CHD1L):c.2391+204=	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247876	NM_004284.6(CHD1L):c.2391+297=	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249305	NM_004284.6(CHD1L):c.2392-167=	CHD1L, LOC126805854	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232087	NM_004284.6(CHD1L):c.2506+48C>G	CHD1L, LOC126805854	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238506	NM_004284.6(CHD1L):c.2506+211C>T	CHD1L, LOC126805854	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242231	NM_004284.6(CHD1L):c.2507-23_2507-22dup	CHD1L	Duplication (intron variant)	not provided	GBenign
Select item 1254949	NM_004284.6(CHD1L):c.2616-50A>G	CHD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267021	NM_004284.6(CHD1L):c.*130=	CHD1L	Single nucleotide variant (no sequence alteration +1 more)	not provided	GBenign
Select item 1258999	NM_004284.6(CHD1L):c.*163G>A	CHD1L	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1225692	NC_000001.11:g.147295805=	CHD1L	Single nucleotide variant	not provided	GBenign
Select item 253629	GRCh37/hg19 1q21.1-21.2(chr1:146542843-147857135)x1	BCL9, FMO5 +6 more	Copy number loss	See cases	GPathogenic
Select item 253627	GRCh37/hg19 1q21.1-21.2(chr1:146535353-147867793)x3	PRKAB2, GJA8 +6 more	Copy number gain	See cases	GPathogenic
Select item 253505	GRCh37/hg19 1q21.1-21.2(chr1:146535353-147380935)x1	GJA5, CHD1L +5 more	Copy number loss	See cases	GPathogenic
Select item 253484	GRCh37/hg19 1q21.1-21.2(chr1:143500223-149763815)x3	ACP6, ANKRD34A +43 more	Copy number gain	See cases	GPathogenic
Select item 253461	GRCh37/hg19 1q21.1-21.2(chr1:146535353-147877206)x3	GPR89B, ACP6 +6 more	Copy number gain	See cases	GPathogenic
Select item 253451	GRCh37/hg19 1q21.1-21.2(chr1:146535353-147857135)x1	PRKAB2, CHD1L +6 more	Copy number loss	See cases	GPathogenic
Select item 253404	GRCh37/hg19 1q21.1-21.2(chr1:146535353-147844809)x1	BCL9, GJA5 +6 more	Copy number loss	See cases	GPathogenic
Select item 253386	GRCh37/hg19 1q21.1-21.2(chr1:146535353-147824207)x1	PRKAB2, GJA8 +6 more	Copy number loss	See cases	GPathogenic
Select item 59831	GRCh37/hg19 1q21.1-21.2(chr1:143646745-148752268)x1	ACP6, ANKRD34A +37 more	Copy number loss	See cases	GPathogenic

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Items: 98