FAXDC2[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +294 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +279 more	Copy number loss	See cases	GPathogenic
Select item 3093236	NM_032385.5(FAXDC2):c.930G>C (p.Glu310Asp)	FAXDC2 (E310D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271192	NM_032385.5(FAXDC2):c.889C>G (p.His297Asp)	FAXDC2 (H297D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093235	NM_032385.5(FAXDC2):c.863G>A (p.Gly288Glu)	FAXDC2 (G288E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380763	NM_032385.5(FAXDC2):c.829G>A (p.Asp277Asn)	FAXDC2 (D277N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331062	NM_032385.5(FAXDC2):c.815C>T (p.Ser272Leu)	FAXDC2 (S272L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258823	NM_032385.5(FAXDC2):c.749G>T (p.Trp250Leu)	FAXDC2 (W250L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302691	NM_032385.5(FAXDC2):c.719T>C (p.Met240Thr)	FAXDC2 (M240T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215196	NM_032385.5(FAXDC2):c.694C>A (p.Pro232Thr)	FAXDC2 (P232T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371792	NM_032385.5(FAXDC2):c.661C>T (p.His221Tyr)	FAXDC2 (H221Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301240	NM_032385.5(FAXDC2):c.593T>C (p.Phe198Ser)	FAXDC2 (F198S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224140	NM_032385.5(FAXDC2):c.544G>A (p.Glu182Lys)	FAXDC2 (E182K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284838	NM_032385.5(FAXDC2):c.542T>A (p.Ile181Asn)	FAXDC2 (I181N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481770	NM_032385.5(FAXDC2):c.536C>T (p.Thr179Met)	FAXDC2 (T179M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471011	NM_032385.5(FAXDC2):c.352G>A (p.Gly118Ser)	FAXDC2 (G118S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303645	NM_032385.5(FAXDC2):c.311C>T (p.Thr104Ile)	FAXDC2 (T104I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593662	NM_032385.5(FAXDC2):c.242T>C (p.Ile81Thr)	FAXDC2 (I81T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 814754	GRCh37/hg19 5q33.2(chr5:154117774-154339494)x1	FAXDC2, CNOT8 +3 more	Copy number loss	not provided	GUncertain significance
Select item 686948	GRCh37/hg19 5q33.2-33.3(chr5:153785664-156189369)x1	CNOT8, FAXDC2 +8 more	Copy number loss	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 30