ClinVar for Gene (Select 29104) - ClinVar

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Links from Gene

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3298244	NM_013240.6(N6AMT1):c.15C>G (p.Asn5Lys)	N6AMT1 (N5K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298243	NM_013240.6(N6AMT1):c.13A>G (p.Asn5Asp)	N6AMT1 (N5D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298242	NM_013240.6(N6AMT1):c.383C>G (p.Thr128Ser)	N6AMT1 (T128S)	Single nucleotide variant (missense variant +2 more)	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 3171133	NM_013240.6(N6AMT1):c.53C>G (p.Ala18Gly)	N6AMT1 (A18G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171121	NM_013240.6(N6AMT1):c.409G>A (p.Gly137Arg)	N6AMT1 (G109R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171114	NM_013240.6(N6AMT1):c.37C>A (p.His13Asn)	N6AMT1 (H13N)	Single nucleotide variant (missense variant +1 more)	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 2684913	GRCh37/hg19 21q21.1-21.3(chr21:21437700-30474088)x3	ADAMTS1, ADAMTS5 +14 more	Copy number gain	not provided	GPathogenic
Select item 2684912	GRCh37/hg19 21q21.1-22.11(chr21:20408138-32852758)x3	N6AMT1, NCAM2 +52 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 2652578	NM_013240.6(N6AMT1):c.479C>T (p.Pro160Leu)	N6AMT1 (P132L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2623794	NM_013240.6(N6AMT1):c.127C>G (p.Leu43Val)	N6AMT1 (L43V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588367	NM_013240.6(N6AMT1):c.74C>T (p.Pro25Leu)	N6AMT1 (P25L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537272	NM_013240.6(N6AMT1):c.89T>A (p.Phe30Tyr)	N6AMT1 (F30Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536581	NM_013240.6(N6AMT1):c.623T>C (p.Val208Ala)	N6AMT1 (V208A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513631	NM_013240.6(N6AMT1):c.19G>A (p.Ala7Thr)	N6AMT1 (A7T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472105	NM_013240.6(N6AMT1):c.529A>G (p.Asn177Asp)	N6AMT1 (N149D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399064	NM_013240.6(N6AMT1):c.5C>T (p.Ala2Val)	N6AMT1 (A2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396157	NM_013240.6(N6AMT1):c.371C>G (p.Pro124Arg)	N6AMT1 (P124R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2364269	NM_013240.6(N6AMT1):c.457G>A (p.Asp153Asn)	N6AMT1 (D153N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353072	NM_013240.6(N6AMT1):c.113C>A (p.Ala38Glu)	N6AMT1 (A38E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320936	NM_013240.6(N6AMT1):c.379G>C (p.Val127Leu)	N6AMT1 (V127L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2318179	NM_013240.6(N6AMT1):c.160T>G (p.Ser54Ala)	N6AMT1 (S54A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2309449	NM_013240.6(N6AMT1):c.22A>G (p.Thr8Ala)	N6AMT1 (T8A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264665	NM_013240.6(N6AMT1):c.358G>A (p.Val120Met)	N6AMT1 (V120M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2255639	NM_013240.6(N6AMT1):c.382A>C (p.Thr128Pro)	N6AMT1 (T128P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2250767	NM_013240.6(N6AMT1):c.328C>T (p.Pro110Ser)	N6AMT1 (P110S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2240448	NM_013240.6(N6AMT1):c.77C>T (p.Ala26Val)	N6AMT1 (A26V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809314	GRCh37/hg19 21q21.3-22.11(chr21:29243314-32472073)x3	LTN1, USP16 +41 more	Copy number gain	not provided	GUncertain significance
Select item 1707470	Single allele	CCT8, LINC00161 +29 more	Duplication	not specified	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 1526711	GRCh37/hg19 21q21.3(chr21:30178276-30550204)	CCT8, LTN1 +4 more	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 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 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 816152	GRCh37/hg19 21q21.3-22.11(chr21:27826100-32468109)x1	ADAMTS1, ADAMTS5 +44 more	Copy number loss	not provided	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 686180	GRCh37/hg19 21q21.3(chr21:29859153-30437842)x3	CCT8, LTN1 +3 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 443320	GRCh37/hg19 21q21.3(chr21:30120768-30533959)x1	CCT8, LTN1 +4 more	Copy number loss	See cases	GUncertain significance
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 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 155712	GRCh38/hg38 21q21.3(chr21:26773248-29573178)x1	ADAMTS1, ADAMTS5 +56 more	Copy number loss	See cases	GUncertain significance
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 154224	GRCh38/hg38 21q21.3(chr21:28268147-28703164)x1	LINC00161, N6AMT1	Copy number loss	See cases	GUncertain significance
Select item 154063	GRCh38/hg38 21q21.1-22.11(chr21:19423169-31841150)x1	LOC130066520, LOC130066521 +213 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 59005	GRCh38/hg38 21q11.2-22.11(chr21:14000720-30903065)x1	ADAMTS1, ADAMTS5 +300 more	Copy number loss	See cases	GPathogenic
Select item 59004	GRCh38/hg38 21q11.2-21.3(chr21:13194345-29257208)x1	ADAMTS1, ADAMTS5 +256 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: 85