"GeneDx"[submitter] AND "GDF1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 522571	NM_001492.6(GDF1):c.1091T>C (p.Met364Thr)	CERS1, GDF1 (M364T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 3367614	NM_001492.6(GDF1):c.1066G>A (p.Val356Met)	CERS1, GDF1 (V356M)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 410641	NM_001492.6(GDF1):c.1047_1050del (p.Phe349fs)	CERS1, GDF1 (F349fs)	Deletion (3 prime UTR variant +1 more)	Congenital heart defects, multiple types, 6 +1 more	GPathogenic/Likely pathogenic
Select item 418233	NM_001492.6(GDF1):c.952G>A (p.Ala318Thr)	CERS1, GDF1 (A318T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 220404	NM_001492.6(GDF1):c.925T>C (p.Ser309Pro)	CERS1, GDF1 (S309P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 418232	NM_001492.6(GDF1):c.776_801del (p.Leu259fs)	CERS1, GDF1 (L259fs)	Deletion (3 prime UTR variant +1 more)	Right atrial isomerism +1 more	GLikely pathogenic
Select item 1314139	NM_001492.6(GDF1):c.686G>C (p.Arg229Pro)	CERS1, GDF1 (R229P)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 6747	NM_001492.6(GDF1):c.681C>A (p.Cys227Ter)	CERS1, GDF1 +1 more (C227*)	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-RELATED DISORDERS +3 more	GPathogenic/Likely pathogenic
Select item 1010796	NM_001492.6(GDF1):c.649C>G (p.Leu217Val)	CERS1, GDF1 (L217V)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital heart defects, multiple types, 6 +1 more	GUncertain significance
Select item 2504463	NM_001492.6(GDF1):c.586G>A (p.Ala196Thr)	CERS1, GDF1 (A196T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 215496	NM_001492.6(GDF1):c.456GGC[6] (p.Ala158_Pro159insAla)	CERS1, GDF1	Microsatellite (3 prime UTR variant +1 more)	Visceral heterotaxy +3 more	GBenign
Select item 1265804	NM_001492.6(GDF1):c.469_470insGCG (p.Ala156_Ala157insGly)	CERS1, GDF1	Insertion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2577724	NM_001492.6(GDF1):c.431G>A (p.Arg144Gln)	CERS1, GDF1 (R144Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2444799	NM_001492.6(GDF1):c.418G>C (p.Glu140Gln)	CERS1, GDF1 (E140Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 418231	NM_001492.6(GDF1):c.401C>G (p.Ser134Trp)	CERS1, GDF1 (S134W)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 392938	NM_001492.6(GDF1):c.371G>T (p.Cys124Phe)	CERS1, GDF1 (C124F)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 1432940	NM_001492.6(GDF1):c.356C>T (p.Ser119Leu)	CERS1, GDF1 (S119L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 258160	NM_001492.6(GDF1):c.353C>T (p.Ala118Val)	GDF1, CERS1 (A118V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3363746	NM_001492.6(GDF1):c.328G>A (p.Ala110Thr)	CERS1, GDF1 (A110T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 198776	NM_001492.6(GDF1):c.326-14T>C	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 137457	NM_001492.6(GDF1):c.325+20G>A	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 2444827	NM_001492.6(GDF1):c.214dup (p.Gln72fs)	CERS1, GDF1 (Q72fs)	Duplication (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3370235	NM_001492.6(GDF1):c.187T>C (p.Trp63Arg)	CERS1, GDF1 (W63R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1723571	NM_001492.6(GDF1):c.176C>T (p.Pro59Leu)	CERS1, GDF1 (P59L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1326753	NM_001492.6(GDF1):c.84_91del (p.Val31fs)	CERS1, GDF1 (V31fs)	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1183736	NM_021267.5(CERS1):c.*151G>T	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 137456	NM_001492.6(GDF1):c.-422-11C>T	CERS1, GDF1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 137455	NM_001492.6(GDF1):c.-894A>G	GDF1, CERS1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 137458	NM_001492.6(GDF1):c.-1089T>C	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 3361922	NM_001492.6(GDF1):c.518GCGCGG[3] (p.Ala176_Asp177insGlyAla)	GDF1	Microsatellite (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3361111	NM_001492.6(GDF1):c.131G>T (p.Gly44Val)	GDF1 (G44V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 31