VGLL3[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	ABHD6, ACOX2 +481 more	Copy number loss	See cases	GPathogenic
Select item 153529	GRCh38/hg38 3p13-11.1(chr3:73824871-90453699)x1	C3orf38, CADM2 +124 more	Copy number loss	See cases	GPathogenic
Select item 155598	GRCh38/hg38 3p12.3-11.1(chr3:74649382-89495681)x1	C3orf38, CADM2 +118 more	Copy number loss	See cases	GPathogenic
Select item 146400	GRCh38/hg38 3p12.3-11.1(chr3:76764260-89682935)x1	C3orf38, CADM2 +89 more	Copy number loss	See cases	GLikely pathogenic
Select item 57759	GRCh38/hg38 3p12.2-11.2(chr3:80320584-87468216)x3	CADM2, CADM2-AS1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 57802	GRCh38/hg38 3p12.2-11.1(chr3:82912987-90179222)x1	C3orf38, CADM2 +54 more	Copy number loss	See cases	GPathogenic
Select item 147525	GRCh38/hg38 3p12.1-11.2(chr3:86917979-87234450)x1	CHMP2B, LINC00506 +9 more	Copy number loss	See cases	GUncertain significance
Select item 3188513	NM_016206.4(VGLL3):c.890C>G (p.Ala297Gly)	VGLL3 (A244G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188512	NM_016206.4(VGLL3):c.887G>T (p.Gly296Val)	VGLL3 (G243V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516579	NM_016206.4(VGLL3):c.877G>A (p.Ala293Thr)	VGLL3 (A240T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355117	NM_016206.4(VGLL3):c.817C>T (p.Pro273Ser)	VGLL3 (P273S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241124	NM_016206.4(VGLL3):c.781C>T (p.Pro261Ser)	VGLL3 (P261S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188511	NM_016206.4(VGLL3):c.757T>A (p.Ser253Thr)	VGLL3 (S200T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482543	NM_016206.4(VGLL3):c.751G>T (p.Ala251Ser)	VGLL3 (A198S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211093	NM_016206.4(VGLL3):c.715C>T (p.Arg239Cys)	VGLL3 (R186C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616299	NM_016206.4(VGLL3):c.670G>A (p.Asp224Asn)	VGLL3 (D171N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188510	NM_016206.4(VGLL3):c.643G>A (p.Val215Met)	VGLL3 (V162M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233450	NM_016206.4(VGLL3):c.622C>A (p.Pro208Thr)	VGLL3 (P155T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266854	NM_016206.4(VGLL3):c.593C>T (p.Ala198Val)	VGLL3 (A145V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403286	NM_016206.4(VGLL3):c.470C>A (p.Pro157His)	VGLL3 (P157H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188509	NM_016206.4(VGLL3):c.427C>T (p.Arg143Trp)	VGLL3 (R143W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490109	NM_016206.4(VGLL3):c.407G>A (p.Ser136Asn)	VGLL3 (S83N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304882	NM_016206.4(VGLL3):c.381G>T (p.Met127Ile)	VGLL3 (M74I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222168	NM_016206.4(VGLL3):c.238G>A (p.Glu80Lys)	VGLL3 (E80K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188508	NM_016206.4(VGLL3):c.229C>A (p.Gln77Lys)	VGLL3 (Q77K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188507	NM_016206.4(VGLL3):c.227A>C (p.Asp76Ala)	VGLL3 (D76A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653985	NM_016206.4(VGLL3):c.225A>G (p.Lys75=)	VGLL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2653986	NM_016206.4(VGLL3):c.105G>A (p.Pro35=)	VGLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2363707	NM_016206.4(VGLL3):c.103C>A (p.Pro35Thr)	VGLL3 (P35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188506	NM_016206.4(VGLL3):c.102G>C (p.Gln34His)	VGLL3 (Q34H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2623831	NM_016206.4(VGLL3):c.53A>G (p.Tyr18Cys)	VGLL3 (Y18C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395793	NM_016206.4(VGLL3):c.29C>T (p.Pro10Leu)	VGLL3 (P10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808126	GRCh37/hg19 3p12.1-11.2(chr3:86841601-87862816)x3	CHMP2B, POU1F1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1676304	GRCh37/hg19 3p13-q12.1(chr3:72488757-99614758)x3	ARL13B, ARL6 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 814462	GRCh37/hg19 3p12.1-11.2(chr3:86841600-87862816)x3	VGLL3, POU1F1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic

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Items: 37