C0345893[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 411643	NM_004329.3(BMPR1A):c.94G>C (p.Gly32Arg)	BMPR1A (G32R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 823741	NM_004329.3(BMPR1A):c.340C>G (p.Pro114Ala)	BMPR1A (P114A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 141022	NM_004329.3(BMPR1A):c.478A>G (p.Met160Val)	BMPR1A (M160V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 489698	NM_004329.3(BMPR1A):c.571C>T (p.Arg191Cys)	BMPR1A (R191C)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +3 more	GUncertain significance
Select item 127902	NM_004329.3(BMPR1A):c.676G>T (p.Val226Phe)	BMPR1A (V226F)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +4 more	GConflicting classifications of pathogenicity
Select item 142599	NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys)	BMPR1A (R254C)	Single nucleotide variant (missense variant)	Generalized juvenile polyposis/juvenile polyposis coli +6 more	GConflicting classifications of pathogenicity
Select item 127900	NM_004329.3(BMPR1A):c.1300G>A (p.Gly434Ser)	BMPR1A (G434S)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 185192	NM_004329.3(BMPR1A):c.1379T>C (p.Met460Thr)	BMPR1A (M460T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 41780	NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His)	BMPR1A (R478H)	Single nucleotide variant (missense variant)	Generalized juvenile polyposis/juvenile polyposis coli +5 more	GConflicting classifications of pathogenicity
Select item 301360	NM_004329.3(BMPR1A):c.*487A>G	BMPR1A	Single nucleotide variant (3 prime UTR variant)	Polyposis syndrome, hereditary mixed, 2 +2 more	GUncertain significance
Select item 889358	NM_005359.6(SMAD4):c.-69G>A	SMAD4	Single nucleotide variant (5 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +4 more	GUncertain significance
Select item 183733	NM_005359.6(SMAD4):c.20C>T (p.Thr7Met)	SMAD4 (T7M)	Single nucleotide variant (missense variant)	Myhre syndrome +9 more	GConflicting classifications of pathogenicity
Select item 231829	NM_005359.6(SMAD4):c.70A>G (p.Met24Val)	SMAD4 (M24V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +7 more	GUncertain significance
Select item 393140	NM_005359.6(SMAD4):c.155A>T (p.Asp52Val)	SMAD4 (D52V)	Single nucleotide variant (missense variant)	SMAD4-related disorder +7 more	GUncertain significance
Select item 188234	NM_005359.6(SMAD4):c.172A>G (p.Ile58Val)	SMAD4 (I58V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +8 more	GUncertain significance
Select item 419954	NM_005359.6(SMAD4):c.181A>G (p.Ile61Val)	SMAD4 (I61V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GUncertain significance
Select item 185866	NM_005359.6(SMAD4):c.535A>G (p.Ile179Val)	SMAD4 (I179V)	Single nucleotide variant (missense variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +7 more	GUncertain significance
Select item 460557	NM_005359.6(SMAD4):c.566G>A (p.Arg189His)	SMAD4 (R189H)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 136077	NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu)	SMAD4 (Q224L)	Single nucleotide variant (missense variant)	SMAD4-related disorder +8 more	GConflicting classifications of pathogenicity
Select item 182869	NM_005359.6(SMAD4):c.677C>T (p.Ala226Val)	SMAD4 (A226V)	Single nucleotide variant (missense variant)	Myhre syndrome +7 more	GConflicting classifications of pathogenicity
Select item 575340	NM_005359.6(SMAD4):c.688G>C (p.Gly230Arg)	SMAD4 (G230R)	Single nucleotide variant (missense variant)	Carcinoma of pancreas +3 more	GUncertain significance
Select item 1003211	NM_005359.6(SMAD4):c.827A>T (p.Tyr276Phe)	SMAD4 (Y276F)	Single nucleotide variant (missense variant)	Myhre syndrome +6 more	GUncertain significance
Select item 1461164	NM_005359.6(SMAD4):c.908C>A (p.Pro303His)	SMAD4 (P303H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 182870	NM_005359.6(SMAD4):c.917A>G (p.Asn306Ser)	SMAD4 (N306S)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +7 more	GUncertain significance
Select item 24832	NM_005359.6(SMAD4):c.1082G>A (p.Arg361His)	SMAD4 (R361H)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 142165	NM_005359.6(SMAD4):c.1106A>G (p.Asn369Ser)	SMAD4 (N369S)	Single nucleotide variant (missense variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +8 more	GConflicting classifications of pathogenicity
Select item 413431	NM_005359.6(SMAD4):c.1125C>T (p.Ala375=)	SMAD4	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +5 more	GLikely benign
Select item 139219	NM_005359.6(SMAD4):c.1140-10T>C	SMAD4	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GConflicting classifications of pathogenicity
Select item 460530	NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu)	SMAD4 (V407L)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 628325	NM_005359.6(SMAD4):c.1339A>C (p.Met447Leu)	SMAD4 (M447L)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +5 more	GUncertain significance
Select item 88673	NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)	SMAD4 (R496C)	Single nucleotide variant (missense variant)	Generalized juvenile polyposis/juvenile polyposis coli +8 more	GConflicting classifications of pathogenicity
Select item 30150	NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)	SMAD4 (I500V)	Single nucleotide variant (missense variant)	Myhre syndrome +8 more	GPathogenic
Select item 922557	NM_005359.6(SMAD4):c.1629G>C (p.Met543Ile)	SMAD4 (M543I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 419554	NM_005359.6(SMAD4):c.1651T>G (p.Leu551Val)	SMAD4 (L551V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +6 more	GUncertain significance
Select item 327114	NM_005359.6(SMAD4):c.*202A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +4 more	GUncertain significance

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Items: 35