ClinVar for Gene (Select 54069) - ClinVar

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Links from Gene

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294947	NM_018944.3(MIS18A):c.100A>G (p.Arg34Gly)	MIS18A (R34G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294946	NM_018944.3(MIS18A):c.451G>A (p.Val151Met)	MIS18A (V151M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294944	NM_018944.3(MIS18A):c.476T>C (p.Leu159Pro)	MIS18A (L159P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294943	NM_018944.3(MIS18A):c.17C>T (p.Ser6Leu)	MIS18A (S6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294942	NM_018944.3(MIS18A):c.382C>T (p.Arg128Cys)	MIS18A (R128C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3126719	NM_018944.3(MIS18A):c.436C>G (p.Leu146Val)	MIS18A (L146V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126718	NM_018944.3(MIS18A):c.434C>T (p.Ser145Leu)	MIS18A (S145L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126716	NM_018944.3(MIS18A):c.403G>A (p.Val135Ile)	MIS18A (V135I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3126715	NM_018944.3(MIS18A):c.199G>A (p.Ala67Thr)	MIS18A (A67T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3126714	NM_018944.3(MIS18A):c.190A>G (p.Met64Val)	MIS18A (M64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126713	NM_018944.3(MIS18A):c.172G>A (p.Asp58Asn)	MIS18A (D58N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2524145	NM_018944.3(MIS18A):c.398G>T (p.Gly133Val)	MIS18A (G133V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513399	NM_018944.3(MIS18A):c.13C>G (p.Arg5Gly)	MIS18A (R5G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468208	NM_018944.3(MIS18A):c.417G>T (p.Leu139Phe)	MIS18A (L139F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370981	NM_018944.3(MIS18A):c.221C>T (p.Ala74Val)	MIS18A (A74V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344531	NM_018944.3(MIS18A):c.391G>A (p.Glu131Lys)	MIS18A (E131K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273243	NM_018944.3(MIS18A):c.311A>G (p.Asp104Gly)	MIS18A (D104G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250230	NM_018944.3(MIS18A):c.320G>A (p.Cys107Tyr)	MIS18A (C107Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235263	NM_018944.3(MIS18A):c.316A>G (p.Asn106Asp)	MIS18A (N106D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232544	NM_018944.3(MIS18A):c.218C>T (p.Ala73Val)	MIS18A (A73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711546	GRCh37/hg19 21q22.11(chr21:33032083-34809269)x3	CFAP298, EPCIP +17 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 1684637	Single allele	ATP5PO, C21orf62 +107 more	Deletion	ZTTK 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 1526709	GRCh37/hg19 21q21.3-22.12(chr21:27185913-35853445)	KRTAP20-4, KRTAP21-1 +77 more	Copy number loss	not specified	GUncertain significance
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	CHAF1B, IFNGR2 +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 1339970	GRCh37/hg19 21q22.11(chr21:32676376-35131913)x3	C21orf62, CFAP298 +24 more	Copy number gain	not provided	GUncertain significance
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 1035906	NC_000021.8:g.(?_32439271)_(37133458_?)dup	ATP5PO, CFAP298 +33 more	Duplication	Early-onset Parkinson disease 20 +1 more	GUncertain significance
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 872829	GRCh37/hg19 21q22.11-22.12(chr21:33205064-36039022)	CFAP298, ATP5PO +28 more	Copy number loss	21q22.11q22.12 microdeletion syndrome	GPathogenic
Select item 816161	GRCh37/hg19 21q22.11(chr21:33645526-33925628)x3	MIS18A, MRAP +2 more	Copy number gain	not provided	GLikely benign
Select item 816159	GRCh37/hg19 21q22.11(chr21:31711916-34632473)x1	CFAP298, EPCIP +43 more	Copy number loss	not provided	GPathogenic
Select item 778903	NM_018944.3(MIS18A):c.453G>A (p.Val151=)	MIS18A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709799	NM_018944.3(MIS18A):c.450C>T (p.Tyr150=)	MIS18A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687348	GRCh37/hg19 21q22.11(chr21:33450315-33967122)x1	EVA1C, MIS18A +3 more	Copy number loss	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 625736	GRCh37/hg19 21q22.11(chr21:32589903-35359935)	ATP5PO, C21orf62 +25 more	Copy number loss	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 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 253448	GRCh37/hg19 21q22.11(chr21:32578640-35060092)x1	C21orf62, IFNAR1 +24 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 236547	GRCh38/hg38 21q21.1-22.11(chr21:21754822-32380347)	BACH1, BACH1-IT2 +215 more	Copy number loss	Monosomy 21	GPathogenic
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 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	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 153076	GRCh37/hg19 21q21.3-22.12(chr21:29880468-36062331)x1	ATP5PO, BACH1 +75 more	Copy number loss	See cases	GPathogenic
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 59011	GRCh38/hg38 21q22.11(chr21:31339386-32311519)x1	HUNK, LINC00159 +27 more	Copy number loss	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

ClinVar

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Links from Gene

Items: 84