"Ambry Genetics"[submitter] AND "PORCN"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1768921	NM_203475.3(PORCN):c.9C>T (p.Thr3=)	PORCN	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 588910	NM_203475.3(PORCN):c.24A>G (p.Glu8=)	PORCN	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 521401	NM_203475.3(PORCN):c.49T>C (p.Cys17Arg)	PORCN (C17R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531232	NM_203475.3(PORCN):c.112G>A (p.Ala38Thr)	PORCN (A38T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 242872	NM_203475.3(PORCN):c.268C>T (p.Arg90Ter)	PORCN (R90* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 1729500	NM_203475.3(PORCN):c.325A>G (p.Met109Val)	PORCN (M109V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 3308929	NM_203475.3(PORCN):c.433G>A (p.Glu145Lys)	PORCN (E74K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 590245	NM_203475.3(PORCN):c.453G>A (p.Ser151=)	PORCN	Single nucleotide variant (synonymous variant)	History of neurodevelopmental disorder +1 more	GLikely benign
Select item 1371874	NM_203475.3(PORCN):c.566G>A (p.Trp189Ter)	PORCN (W118* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 197905	NM_203475.3(PORCN):c.633C>T (p.Gly211=)	PORCN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 1575497	NM_203475.3(PORCN):c.683G>A (p.Arg228His)	PORCN (R157H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1756900	NM_203475.3(PORCN):c.705-3T>G	PORCN	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 2549000	NM_203475.3(PORCN):c.713T>C (p.Met238Thr)	PORCN (M238T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1758058	NM_203475.3(PORCN):c.727C>T (p.Arg243Ter)	PORCN (R232* +4 more)	Single nucleotide variant (nonsense)	Focal dermal hypoplasia +1 more	GPathogenic
Select item 773621	NM_203475.3(PORCN):c.794C>T (p.Thr265Met)	PORCN (T260M +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1592185	NM_203475.3(PORCN):c.896T>C (p.Val299Ala)	PORCN (V217A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 589007	NM_203475.3(PORCN):c.930T>G (p.Ser310=)	PORCN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2368214	NM_203475.3(PORCN):c.1004C>T (p.Ala335Val)	PORCN (A335V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 194140	NM_203475.3(PORCN):c.1158G>A (p.Ser386=)	PORCN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 1738725	NM_203475.3(PORCN):c.1168C>T (p.Arg390Cys)	PORCN (R308C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3308931	NM_203475.3(PORCN):c.1175G>A (p.Gly392Asp)	PORCN (G386D +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1763310	NM_203475.3(PORCN):c.1261G>A (p.Val421Met)	PORCN (V416M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 588092	NM_203475.3(PORCN):c.1274C>T (p.Thr425Ile)	PORCN (T420I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2227168	NM_203475.3(PORCN):c.1284G>C (p.Gln428His)	PORCN (Q346H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 24