CHAF1B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	KCNJ6, KCNJ6-AS1 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 146086	GRCh38/hg38 21q22.12-22.2(chr21:35543872-39993338)x1	B3GALT5, B3GALT5-AS1 +177 more	Copy number loss	See cases	GPathogenic
Select item 144137	GRCh38/hg38 21q22.12-22.2(chr21:35772177-38558509)x1	CBR1, CBR1-AS1 +110 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 2652647	NM_005441.3(CHAF1B):c.47T>C (p.Val16Ala)	CHAF1B (V16A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2604398	NM_005441.3(CHAF1B):c.124A>G (p.Arg42Gly)	CHAF1B (R42G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144047	NM_005441.3(CHAF1B):c.158A>G (p.Lys53Arg)	CHAF1B (K53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298474	NM_005441.3(CHAF1B):c.197C>G (p.Thr66Ser)	CHAF1B (T66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235528	NM_005441.3(CHAF1B):c.202G>T (p.Ala68Ser)	CHAF1B (A68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520727	NM_005441.3(CHAF1B):c.205G>A (p.Val69Ile)	CHAF1B (V69I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544531	NM_005441.3(CHAF1B):c.227C>T (p.Pro76Leu)	CHAF1B (P76L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318761	NM_005441.3(CHAF1B):c.472G>A (p.Val158Ile)	CHAF1B (V158I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 59249	GRCh38/hg38 21q22.12-22.2(chr21:36396699-38951223)x3	CHAF1B, CLDN14 +99 more	Copy number gain	See cases	GPathogenic
Select item 183350	NM_005441.3(CHAF1B):c.496A>G (p.Ile166Val)	CHAF1B (I166V)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GLikely pathogenic
Select item 2411702	NM_005441.3(CHAF1B):c.583C>A (p.Leu195Met)	CHAF1B (L195M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510986	NM_005441.3(CHAF1B):c.595A>C (p.Ser199Arg)	CHAF1B (S199R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269250	NM_005441.3(CHAF1B):c.629C>T (p.Ser210Leu)	CHAF1B (S210L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333766	NM_005441.3(CHAF1B):c.656A>G (p.Glu219Gly)	CHAF1B (E219G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375268	NM_005441.3(CHAF1B):c.733G>A (p.Asp245Asn)	CHAF1B (D245N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161635	NM_005441.3(CHAF1B):c.862A>G (p.Thr288Ala)	CHAF1B, LOC126653361 (T288A)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2221973	NM_005441.3(CHAF1B):c.874C>T (p.Arg292Cys)	CHAF1B, LOC126653361 (R292C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266782	NM_005441.3(CHAF1B):c.890A>G (p.Tyr297Cys)	CHAF1B, LOC126653361 (Y297C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144049	NM_005441.3(CHAF1B):c.922G>A (p.Val308Met)	CHAF1B (V308M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266788	NM_005441.3(CHAF1B):c.940C>T (p.Pro314Ser)	CHAF1B (P314S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266786	NM_005441.3(CHAF1B):c.946C>T (p.Arg316Cys)	CHAF1B (R316C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652648	NM_005441.3(CHAF1B):c.951G>A (p.Leu317=)	CHAF1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2212930	NM_005441.3(CHAF1B):c.979G>A (p.Val327Met)	CHAF1B (V327M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340067	NM_005441.3(CHAF1B):c.1174A>G (p.Met392Val)	CHAF1B (M392V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3144045	NM_005441.3(CHAF1B):c.1211A>G (p.Gln404Arg)	CHAF1B (Q404R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144046	NM_005441.3(CHAF1B):c.1229C>T (p.Ser410Leu)	CHAF1B (S410L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266785	NM_005441.3(CHAF1B):c.1235G>A (p.Gly412Glu)	CHAF1B (G412E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730362	NM_005441.3(CHAF1B):c.1244C>T (p.Pro415Leu)	CHAF1B (P415L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2458115	NM_005441.3(CHAF1B):c.1280C>T (p.Pro427Leu)	CHAF1B (P427L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266789	NM_005441.3(CHAF1B):c.1367T>C (p.Val456Ala)	CHAF1B (V456A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3266783	NM_005441.3(CHAF1B):c.1391C>T (p.Ser464Leu)	CHAF1B (S464L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266787	NM_005441.3(CHAF1B):c.1426A>G (p.Thr476Ala)	CHAF1B (T476A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728908	NM_005441.3(CHAF1B):c.1458G>A (p.Leu486=)	CHAF1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2271680	NM_005441.3(CHAF1B):c.1489C>T (p.Pro497Ser)	CHAF1B (P497S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214397	NM_005441.3(CHAF1B):c.1492C>T (p.Arg498Trp)	CHAF1B (R498W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778907	NM_005441.3(CHAF1B):c.1516A>C (p.Lys506Gln)	CHAF1B (K506Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 716510	NM_005441.3(CHAF1B):c.1520C>T (p.Thr507Met)	CHAF1B (T507M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2245309	NM_005441.3(CHAF1B):c.1582C>G (p.Gln528Glu)	CHAF1B (Q528E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358277	NM_005441.3(CHAF1B):c.1586C>T (p.Ser529Leu)	CHAF1B (S529L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455718	NM_005441.3(CHAF1B):c.1592C>T (p.Thr531Met)	CHAF1B (T531M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2652649	NM_005441.3(CHAF1B):c.1611C>A (p.Gly537=)	CHAF1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3248159	NC_000021.8:g.(?_37133458)_(38884834_?)dup	CBR1, CBR3 +12 more	Duplication	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 3248151	NC_000021.8:g.(?_36164432)_(37834775_?)del	CBR1, CBR3 +6 more	Deletion	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic
Select item 3248147	NC_000021.8:g.(?_37707582)_(38139606_?)del	CHAF1B, CLDN14 +3 more	Deletion	Holocarboxylase synthetase deficiency	GPathogenic
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +186 more	Copy number gain	not specified	GPathogenic
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	CLDN14, CLDN17 +170 more	Copy number gain	not provided	GPathogenic
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	Down syndrome	GPathogenic
Select item 1526710	GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)	KRTAP20-1, KRTAP20-2 +91 more	Copy number gain	not specified	GPathogenic
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	ADAMTS1, ADAMTS5 +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KCNJ15, N6AMT1 +216 more	Copy number gain	not specified	GPathogenic
Select item 1412731	NC_000021.8:g.(?_37507491)_(39212984_?)dup	CBR3, CHAF1B +11 more	Duplication	not provided	GUncertain significance
Select item 1409651	NC_000021.8:g.(?_32439271)_(39212984_?)dup	EVA1C, OLIG2 +48 more	Duplication	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 +3 more	GUncertain significance
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	COL6A2, KRTAP20-3 +220 more	Copy number gain	See cases	GPathogenic
Select item 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ATP5PF, IL10RB +217 more	Copy number gain	not provided	GPathogenic
Select item 666223	NC_000021.8:g.(?_37133458)_(38311203_?)dup	CBR1, CBR3 +7 more	Duplication	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 564677	GRCh37/hg19 21q22.11-22.2(chr21:33980213-42542987)x3	ATP5PO, B3GALT5 +56 more	Copy number gain	not provided	GPathogenic
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 443777	GRCh37/hg19 21q22.12-22.2(chr21:36183329-42311538)x3	B3GALT5, BRWD1 +30 more	Copy number gain	See cases	GLikely pathogenic

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