"GeneDx"[submitter] AND "GDF3"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58985	GRCh38/hg38 12p13.31(chr12:6728665-7705620)x1	LOC130007275, LOC130007276 +97 more	Copy number loss	See cases	GPathogenic
Select item 2444805	NM_020634.3(GDF3):c.1091G>C (p.Gly364Ala)	GDF3 (G364A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662775	NM_020634.3(GDF3):c.1035del (p.Asn345fs)	GDF3 (N345fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 471501	NM_020634.3(GDF3):c.982G>C (p.Val328Leu)	GDF3 (V328L)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 3, autosomal dominant +1 more	GBenign
Select item 2571707	NM_020634.3(GDF3):c.973C>A (p.Pro325Thr)	GDF3 (P325T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 423808	NM_020634.3(GDF3):c.914T>G (p.Leu305Arg)	GDF3 (L305R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 657164	NM_020634.3(GDF3):c.910T>C (p.Ser304Pro)	GDF3 (S304P)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 3, autosomal dominant +1 more	GUncertain significance
Select item 30591	NM_020634.3(GDF3):c.796C>T (p.Arg266Cys)	GDF3 (R266C)	Single nucleotide variant (missense variant)	Scoliosis +5 more	GConflicting classifications of pathogenicity
Select item 1164810	NM_020634.3(GDF3):c.637G>A (p.Gly213Arg)	GDF3 (G213R)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 3, autosomal dominant +1 more	GBenign
Select item 1181205	NM_020634.3(GDF3):c.269-73G>A	GDF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280731	NM_020634.3(GDF3):c.269-173A>G	GDF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281150	NM_020634.3(GDF3):c.269-178G>A	GDF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285830	NM_020634.3(GDF3):c.269-196G>A	GDF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260011	NM_020634.3(GDF3):c.268+117G>A	GDF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1165048	NM_020634.3(GDF3):c.123C>G (p.Pro41=)	GDF3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1308099	NM_020634.3(GDF3):c.8G>A (p.Arg3His)	GDF3 (R3H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1225033	NC_000012.12:g.7695841C>T	GDF3	Single nucleotide variant	not provided	GBenign
Select item 1242934	NC_000012.12:g.7696031C>T	GDF3	Single nucleotide variant	not provided	GBenign
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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Items: 20