N6AMT1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 85

	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 59004	GRCh38/hg38 21q11.2-21.3(chr21:13194345-29257208)x1	ADAMTS1, ADAMTS5 +256 more	Copy number loss	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 154063	GRCh38/hg38 21q21.1-22.11(chr21:19423169-31841150)x1	LOC130066520, LOC130066521 +213 more	Copy number loss	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 155712	GRCh38/hg38 21q21.3(chr21:26773248-29573178)x1	ADAMTS1, ADAMTS5 +56 more	Copy number loss	See cases	GUncertain significance
Select item 1707470	Single allele	CCT8, LINC00161 +29 more	Duplication	not specified	GUncertain significance
Select item 154224	GRCh38/hg38 21q21.3(chr21:28268147-28703164)x1	LINC00161, N6AMT1	Copy number loss	See cases	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1809314	GRCh37/hg19 21q21.3-22.11(chr21:29243314-32472073)x3	LTN1, USP16 +41 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 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 153076	GRCh37/hg19 21q21.3-22.12(chr21:29880468-36062331)x1	ATP5PO, BACH1 +75 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: 85