ARNT[gene] - ClinVar

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

Search results

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 2590080	NM_001668.4(ARNT):c.2203C>G (p.His735Asp)	ARNT (H720D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309818	NM_001668.4(ARNT):c.2099G>A (p.Arg700His)	ARNT (R686H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302287	NM_001668.4(ARNT):c.2093C>T (p.Thr698Ile)	ARNT (T698I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232941	NM_001668.4(ARNT):c.2063C>T (p.Ser688Leu)	ARNT (S673L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343018	NM_001668.4(ARNT):c.1937G>C (p.Gly646Ala)	ARNT (G644A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456760	NM_001668.4(ARNT):c.1814T>C (p.Leu605Pro)	ARNT (L590P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255063	NM_001668.4(ARNT):c.1784G>A (p.Arg595Gln)	ARNT (R581Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303239	NM_001668.4(ARNT):c.1778C>A (p.Thr593Asn)	ARNT (T578N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291659	NM_001668.4(ARNT):c.1684C>T (p.His562Tyr)	ARNT (H548Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782937	NM_001668.4(ARNT):c.1531G>A (p.Asp511Asn)	ARNT (D509N +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2509622	NM_001668.4(ARNT):c.1442G>A (p.Arg481Lys)	ARNT (R479K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229131	NM_001668.4(ARNT):c.1150G>C (p.Val384Leu)	ARNT (V383L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302516	NM_001668.4(ARNT):c.1147A>G (p.Thr383Ala)	ARNT (T368A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743372	NM_001668.4(ARNT):c.990C>A (p.Gly330=)	ARNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3129735	NM_001668.4(ARNT):c.974A>G (p.Asp325Gly)	ARNT (D311G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129734	NM_001668.4(ARNT):c.812G>A (p.Ser271Asn)	ARNT (S256N +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3129733	NM_001668.4(ARNT):c.785C>T (p.Ser262Leu)	ARNT (S253L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207764	NM_001668.4(ARNT):c.230C>T (p.Ser77Leu)	ARNT (S68L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129732	NM_001668.4(ARNT):c.127C>T (p.Arg43Trp)	ARNT (R43W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302113	NM_001668.4(ARNT):c.55C>A (p.Pro19Thr)	ARNT (P10T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	HRNR, IL6R +228 more	Duplication	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 979297	GRCh37/hg19 1q21.3(chr1:150611086-150941270)x1	CTSK, SETDB1 +5 more	Copy number loss	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 393719	GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3	ACP6, ADAMTSL4 +103 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	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: 31