CREB3L4[gene] - ClinVar

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Items: 37

	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 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 2279437	NM_001255978.2(CREB3L4):c.123G>C (p.Arg41Ser)	CREB3L4 (R41S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2254412	NM_001255978.2(CREB3L4):c.166C>T (p.Arg56Cys)	CREB3L4 (R56C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2598337	NM_001255978.2(CREB3L4):c.254C>T (p.Pro85Leu)	CREB3L4 (P85L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344145	NM_001255978.2(CREB3L4):c.305C>G (p.Pro102Arg)	CREB3L4 (P82R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212088	NM_001255978.2(CREB3L4):c.334C>T (p.Leu112Phe)	CREB3L4 (L92F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524900	NM_001255978.2(CREB3L4):c.676C>T (p.Arg226Cys)	CREB3L4 (R206C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590251	NM_001255978.2(CREB3L4):c.691G>A (p.Ala231Thr)	CREB3L4 (A231T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259989	NM_001255978.2(CREB3L4):c.778C>G (p.Gln260Glu)	CREB3L4 (Q240E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256939	NM_001255978.2(CREB3L4):c.845C>T (p.Thr282Met)	CREB3L4 (T282M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2612098	NM_001255978.2(CREB3L4):c.948C>G (p.Phe316Leu)	CREB3L4 (F296L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517545	NM_001255978.2(CREB3L4):c.959C>T (p.Pro320Leu)	CREB3L4 (P300L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230436	NM_001255978.2(CREB3L4):c.985C>T (p.Pro329Ser)	CREB3L4 (P309S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485474	NM_001255978.2(CREB3L4):c.1015A>T (p.Thr339Ser)	CREB3L4 (T339S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335192	NM_001255978.2(CREB3L4):c.1084G>A (p.Ala362Thr)	CREB3L4 (A362T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342150	NM_001255978.2(CREB3L4):c.1120G>A (p.Glu374Lys)	CREB3L4 (E354K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306108	NM_001255978.2(CREB3L4):c.1145C>T (p.Pro382Leu)	CREB3L4 (P382L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355913	NM_001255978.2(CREB3L4):c.1150G>A (p.Gly384Arg)	CREB3L4 (G384R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2343731	NM_001255978.2(CREB3L4):c.1150G>T (p.Gly384Trp)	CREB3L4 (G384W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341636	NM_001255978.2(CREB3L4):c.1165G>A (p.Val389Met)	CREB3L4 (V369M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3247808	NC_000001.10:g.(?_153782653)_(154580482_?)dup	DENND4B, C1orf43 +20 more	Duplication	Aicardi-Goutieres syndrome 6 +1 more	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	CDC42SE1, CELF3 +228 more	Duplication	Kostmann syndrome +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ATP8B2, AVPR1B +956 more	Duplication	Parathyroid carcinoma +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)	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

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Items: 37