"PreventionGenetics, part of Exact Sciences"[submitter] AND "GDF1"[gen - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1085392	NM_001492.6(GDF1):c.1041G>T (p.Val347=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder +1 more	GLikely benign
Select item 471940	NM_001492.6(GDF1):c.985C>T (p.Pro329Ser)	CERS1, GDF1 (P329S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GUncertain significance
Select item 2629019	NM_001492.6(GDF1):c.934C>G (p.Pro312Ala)	CERS1, GDF1 (P312A)	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder	GUncertain significance
Select item 220404	NM_001492.6(GDF1):c.925T>C (p.Ser309Pro)	GDF1, CERS1 (S309P)	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 471939	NM_001492.6(GDF1):c.912C>G (p.Val304=)	GDF1, CERS1	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder +1 more	GLikely benign
Select item 2396179	NM_001492.6(GDF1):c.878C>T (p.Ala293Val)	CERS1, GDF1 (A293V)	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder +1 more	GUncertain significance
Select item 6748	NM_001492.6(GDF1):c.800G>A (p.Cys267Tyr)	CERS1, GDF1 (C267Y)	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder	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)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 3053983	NM_001492.6(GDF1):c.665G>A (p.Arg222Gln)	CERS1, GDF1 (R222Q)	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder	GUncertain significance
Select item 2630294	NM_001492.6(GDF1):c.620_621delinsTT (p.Ala207Val)	CERS1, GDF1 (A207V)	Indel (3 prime UTR variant +1 more)	GDF1-related disorder	GUncertain significance
Select item 3029611	NM_001492.6(GDF1):c.546G>T (p.Leu182=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder	GLikely benign
Select item 6749	NM_001492.6(GDF1):c.485G>A (p.Gly162Asp)	CERS1, GDF1 (G162D)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 215496	NM_001492.6(GDF1):c.456GGC[6] (p.Ala158dup)	CERS1, GDF1	Microsatellite (3 prime UTR variant +1 more)	Visceral heterotaxy +3 more	GBenign
Select item 258161	NM_001492.6(GDF1):c.388G>A (p.Val130Ile)	CERS1, GDF1 (V130I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
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 198776	NM_001492.6(GDF1):c.326-14T>C	GDF1, CERS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 137457	NM_001492.6(GDF1):c.325+20G>A	CERS1, GDF1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3050799	NM_001492.6(GDF1):c.267G>A (p.Pro89=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder	GLikely benign
Select item 2632124	NM_001492.6(GDF1):c.136C>T (p.Arg46Cys)	CERS1, GDF1 (R46C)	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder	GUncertain significance
Select item 1100976	NM_001492.6(GDF1):c.78G>C (p.Leu26=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder +1 more	GLikely benign
Select item 258162	NM_001492.6(GDF1):c.55C>G (p.Leu19Val)	CERS1, GDF1 (L19V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 258159	NM_001492.6(GDF1):c.-11C>T	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3047464	NM_001492.6(GDF1):c.-263C>T	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder	GLikely benign
Select item 1920009	NM_021267.5(CERS1):c.978C>T (p.Ala326=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8 +1 more	GLikely benign
Select item 755559	NM_021267.5(CERS1):c.912G>A (p.Ala304=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	CERS1-related disorder +1 more	GLikely benign
Select item 3049686	NM_021267.5(CERS1):c.729C>T (p.Gly243=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	CERS1-related disorder	GLikely benign
Select item 1674175	NM_021267.5(CERS1):c.549C>T (p.His183=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +1 more)	CERS1-related disorder +1 more	GLikely benign
Select item 1147916	NM_021267.5(CERS1):c.393A>G (p.Pro131=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +1 more)	Progressive myoclonic epilepsy type 8 +1 more	GLikely benign
Select item 475369	NM_021267.5(CERS1):c.37C>T (p.Pro13Ser)	CERS1, GDF1 (P13S)	Single nucleotide variant (missense variant +2 more)	CERS1-related disorder +2 more	GConflicting classifications of pathogenicity

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Items: 29