"GeneDx"[submitter] AND "DVL3"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 3375869	NM_004423.4(DVL3):c.5dup (p.Glu3fs)	DVL3 (E3fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2504901	NM_004423.4(DVL3):c.122G>A (p.Ser41Asn)	DVL3 (S41N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1275331	NM_004423.4(DVL3):c.161+167C>T	DVL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222819	NM_004423.4(DVL3):c.162-211G>A	DVL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219993	NM_004423.4(DVL3):c.162-203A>G	DVL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232840	NM_004423.4(DVL3):c.231+261A>G	DVL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187829	NM_004423.4(DVL3):c.232-211C>T	DVL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 715642	NM_004423.4(DVL3):c.291G>A (p.Ser97=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3369590	NM_004423.4(DVL3):c.470G>C (p.Arg157Pro)	DVL3 (R157P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376005	NM_004423.4(DVL3):c.518A>G (p.Tyr173Cys)	DVL3 (Y173C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306645	NM_004423.4(DVL3):c.554A>T (p.Glu185Val)	DVL3 (E185V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707810	NM_004423.4(DVL3):c.562del (p.Ser188fs)	DVL3 (S188fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2136193	NM_004423.4(DVL3):c.664C>T (p.Arg222Trp)	DVL3 (R222W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1188185	NM_004423.4(DVL3):c.763+287C>T	DVL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218384	NM_004423.4(DVL3):c.764-194T>C	DVL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1698218	NM_004423.4(DVL3):c.874C>T (p.Arg292Cys)	DVL3 (R292C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1274349	NM_004423.4(DVL3):c.1049-64T>C	DVL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268538	NM_004423.4(DVL3):c.1049-26C>G	DVL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280047	NM_004423.4(DVL3):c.1198+132C>T	DVL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179645	NM_004423.4(DVL3):c.1199-156C>G	DVL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3377888	NM_004423.4(DVL3):c.1370G>A (p.Gly457Asp)	DVL3 (G457D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1240980	NM_004423.4(DVL3):c.1498+287C>T	DVL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187973	NM_004423.4(DVL3):c.1502T>C (p.Met501Thr)	DVL3 (M501T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693339	NM_004423.4(DVL3):c.1580C>G (p.Pro527Arg)	DVL3 (P527R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501848	NM_004423.4(DVL3):c.1604C>A (p.Ala535Asp)	DVL3 (A535D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166755	NM_004423.4(DVL3):c.1714+6G>A	DVL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 791962	NM_004423.4(DVL3):c.1715-4A>C	DVL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 817756	NM_004423.4(DVL3):c.1728_1752del (p.Ser578fs)	DVL3 (S578fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 817264	NM_004423.4(DVL3):c.1751_1754del (p.Asp584fs)	DVL3 (D584fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2303826	NM_004423.4(DVL3):c.1885G>A (p.Ala629Thr)	DVL3 (A629T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1706139	NM_004423.4(DVL3):c.1922C>T (p.Ala641Val)	DVL3 (A641V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707066	NM_004423.4(DVL3):c.1995dup (p.Met666fs)	DVL3 (M666fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic
Select item 3360193	NM_004423.4(DVL3):c.1751A>G (p.Asp584Gly)	DVL3 (D584G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 36