1258[HGNC] - ClinVar

Search results

Items: 98

	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 1338741	NC_000021.9:g.34799252_36071979del	CBR1, CBR1-AS1 +48 more	Deletion	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely pathogenic
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 2512026	NM_017438.5(SETD4):c.1288G>A (p.Glu430Lys)	SETD4 (E430K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2652639	NM_017438.5(SETD4):c.1212A>T (p.Lys404Asn)	SETD4 (K380N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2353472	NM_017438.5(SETD4):c.1208A>C (p.Glu403Ala)	SETD4 (E403A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317740	NM_017438.5(SETD4):c.1205A>T (p.Asp402Val)	SETD4 (D378V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317737	NM_017438.5(SETD4):c.1043T>C (p.Leu348Ser)	SETD4 (L324S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299231	NM_017438.5(SETD4):c.1028C>G (p.Thr343Arg)	SETD4 (T319R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611899	NM_017438.5(SETD4):c.890A>G (p.Tyr297Cys)	SETD4 (Y297C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317735	NM_017438.5(SETD4):c.877C>T (p.His293Tyr)	SETD4 (H269Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317741	NM_017438.5(SETD4):c.874C>T (p.Pro292Ser)	SETD4 (P292S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355619	NM_017438.5(SETD4):c.836G>A (p.Arg279Gln)	SETD4 (R255Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160671	NM_017438.5(SETD4):c.821C>G (p.Pro274Arg)	SETD4 (P250R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160670	NM_017438.5(SETD4):c.817G>A (p.Gly273Ser)	SETD4 (G249S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369473	NM_017438.5(SETD4):c.782G>A (p.Arg261His)	SETD4 (R261H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160668	NM_017438.5(SETD4):c.773C>T (p.Thr258Met)	SETD4 (T234M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344028	NM_017438.5(SETD4):c.765A>T (p.Glu255Asp)	SETD4 (E231D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591561	NM_017438.5(SETD4):c.763G>A (p.Glu255Lys)	SETD4 (E255K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160667	NM_017438.5(SETD4):c.737C>T (p.Ala246Val)	SETD4 (A222V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389070	NM_017438.5(SETD4):c.719A>G (p.His240Arg)	SETD4 (H240R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2373581	NM_017438.5(SETD4):c.689C>T (p.Pro230Leu)	SETD4 (P206L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313795	NM_017438.5(SETD4):c.685G>A (p.Ala229Thr)	SETD4 (A229T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400343	NM_017438.5(SETD4):c.682C>T (p.Leu228Phe)	SETD4 (L228F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317742	NM_017438.5(SETD4):c.559G>C (p.Ala187Pro)	SETD4 (A163P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160666	NM_017438.5(SETD4):c.508T>C (p.Phe170Leu)	SETD4 (F146L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317738	NM_017438.5(SETD4):c.494A>G (p.His165Arg)	SETD4 (H165R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2279937	NM_017438.5(SETD4):c.368G>A (p.Arg123Gln)	SETD4 (R123Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3317736	NM_017438.5(SETD4):c.358G>T (p.Ala120Ser)	SETD4 (A120S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323899	NM_017438.5(SETD4):c.334A>G (p.Thr112Ala)	SETD4 (T112A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160665	NM_017438.5(SETD4):c.307C>T (p.Pro103Ser)	SETD4 (P103S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317734	NM_017438.5(SETD4):c.239G>T (p.Ser80Ile)	SETD4 (S56I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317739	NM_017438.5(SETD4):c.222T>G (p.Ile74Met)	SETD4 (I50M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317743	NM_017438.5(SETD4):c.202C>G (p.Leu68Val)	SETD4 (L44V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205737	NM_017438.5(SETD4):c.152C>T (p.Ala51Val)	SETD4 (A51V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 1809036	GRCh37/hg19 21q22.12(chr21:37248476-37646409)x3	CBR1, CBR3 +2 more	Copy number gain	not provided	GUncertain significance
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 1526717	GRCh37/hg19 21q22.12(chr21:36921412-37475794)	CBR1, SETD4	Copy number gain	not specified	GUncertain significance
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 1409651	NC_000021.8:g.(?_32439271)_(39212984_?)dup	ATP5PO, CBR1 +48 more	Duplication	Immunodeficiency 28 +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 816162	GRCh37/hg19 21q22.12(chr21:36921412-37467619)x3	CBR1, SETD4	Copy number gain	not provided	GUncertain significance
Select item 812918	NC_000021.8:g.36323351_37470324del	CBR1, RUNX1 +1 more	Deletion	Thrombocytopenia	GPathogenic
Select item 686759	GRCh37/hg19 21q22.12(chr21:36919361-37475794)x3	CBR1, SETD4	Copy number gain	not provided	GUncertain significance
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 564653	GRCh37/hg19 21q22.12(chr21:37248475-37646409)x3	CBR1, DOP1B +2 more	Copy number gain	not provided	GUncertain significance
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
Select item 394309	GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	EVA1C, FAM3B +217 more	Copy number gain	See cases	GPathogenic
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic
Select item 59013	GRCh37/hg19 21q22.1-22.3(chr21:35527952-44298520)x1	ABCG1, B3GALT5 +56 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 98