JTB[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 60011	GRCh38/hg38 1q21.3(chr1:153759563-154219803)x1	C1orf43, CFAP141 +35 more	Copy number loss	See cases	GPathogenic
Select item 560045	Single allele	CREB3L4, CRTC2 +26 more	Deletion	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GLikely pathogenic
Select item 60012	GRCh38/hg38 1q21.3(chr1:153939571-153978276)x1	CREB3L4, CRTC2 +16 more	Copy number loss	See cases	GPathogenic
Select item 3112556	NM_006694.4(JTB):c.386G>A (p.Arg129Gln)	JTB (R129Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564370	NM_006694.4(JTB):c.383A>G (p.Gln128Arg)	JTB (Q128R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112555	NM_006694.4(JTB):c.340G>A (p.Val114Met)	JTB (V114M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112554	NM_006694.4(JTB):c.248T>G (p.Ile83Ser)	JTB (I83S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775606	NM_006694.4(JTB):c.46C>T (p.Leu16Phe)	JTB (L16F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2334178	NM_006694.4(JTB):c.23C>T (p.Pro8Leu)	JTB (P8L)	Single nucleotide variant (missense variant)	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 2426580	NC_000001.10:g.(?_153782653)_(153964569_?)del	CREB3L4, CRTC2 +6 more	Deletion	not provided	GPathogenic
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	ARHGEF2, ARNT +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 979296	GRCh37/hg19 1q21.3(chr1:153866956-154000766)x1	JTB, CREB3L4 +7 more	Copy number loss	not provided	GUncertain significance
Select item 814130	GRCh37/hg19 1q21.3(chr1:153659094-154307972)x3	JTB, RPS27 +17 more	Copy number gain	not provided	GUncertain significance
Select item 625770	GRCh37/hg19 1q21.3(chr1:153701504-154218584)	JTB, NUP210L +13 more	Copy number loss	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GPathogenic
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	GPathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 23