ClinVar for MedGen (Select 462225) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237448	NM_005401.5(PTPN14):c.456C>G (p.Asp152Glu)	PTPN14 (D152E)	Single nucleotide variant (missense variant)	Lymphedema-posterior choanal atresia syndrome	GUncertain significance
Select item 3237421	NM_005401.5(PTPN14):c.1583C>T (p.Pro528Leu)	PTPN14 (P528L)	Single nucleotide variant (missense variant)	Lymphedema-posterior choanal atresia syndrome	GUncertain significance
Select item 3237384	NM_005401.5(PTPN14):c.2216C>T (p.Ala739Val)	PTPN14 (A739V)	Single nucleotide variant (missense variant)	Lymphedema-posterior choanal atresia syndrome	GUncertain significance
Select item 2672235	NM_005401.5(PTPN14):c.2164C>T (p.Pro722Ser)	PTPN14 (P722S)	Single nucleotide variant (missense variant)	Lymphedema-posterior choanal atresia syndrome	GUncertain significance
Select item 2672216	NM_005401.5(PTPN14):c.1574C>T (p.Pro525Leu)	PTPN14 (P525L)	Single nucleotide variant (missense variant)	Lymphedema-posterior choanal atresia syndrome	GUncertain significance
Select item 2672139	NM_005401.5(PTPN14):c.715A>T (p.Ile239Phe)	PTPN14 (I239F)	Single nucleotide variant (missense variant)	Lymphedema-posterior choanal atresia syndrome	GUncertain significance
Select item 2435288	NM_005401.5(PTPN14):c.*6320C>T	PTPN14	Single nucleotide variant (3 prime UTR variant)	Lymphedema-posterior choanal atresia syndrome	GUncertain significance
Select item 2435287	NM_005401.5(PTPN14):c.679G>T (p.Gly227Ter)	PTPN14 (G227*)	Single nucleotide variant (nonsense)	Lymphedema-posterior choanal atresia syndrome	GUncertain significance
Select item 2435286	NM_005401.5(PTPN14):c.-154-22749A>G	PTPN14	Single nucleotide variant (intron variant)	Lymphedema-posterior choanal atresia syndrome	GUncertain significance
Select item 2435285	NM_005401.5(PTPN14):c.-154-42562G>A	PTPN14	Single nucleotide variant (intron variant)	Lymphedema-posterior choanal atresia syndrome	GUncertain significance
Select item 2359362	NM_005401.5(PTPN14):c.3500T>C (p.Ile1167Thr)	PTPN14 (I1167T)	Single nucleotide variant (missense variant)	Lymphedema-posterior choanal atresia syndrome +1 more	GUncertain significance
Select item 2359361	NM_005401.5(PTPN14):c.2596A>G (p.Met866Val)	PTPN14 (M866V)	Single nucleotide variant (missense variant)	Lymphedema-posterior choanal atresia syndrome +1 more	GUncertain significance
Select item 1274316	NM_005401.5(PTPN14):c.758+5T>G	PTPN14	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1263765	NM_005401.5(PTPN14):c.3252A>G (p.Glu1084=)	PTPN14	Single nucleotide variant (synonymous variant)	Lymphedema-posterior choanal atresia syndrome +1 more	GBenign
Select item 1259740	NM_005401.5(PTPN14):c.2688+26C>T	PTPN14	Single nucleotide variant (intron variant)	Lymphedema-posterior choanal atresia syndrome +1 more	GBenign
Select item 1245797	NM_005401.5(PTPN14):c.-26G>A	PTPN14	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1242532	NM_005401.5(PTPN14):c.929+24del	PTPN14	Deletion (intron variant)	Lymphedema-posterior choanal atresia syndrome +1 more	GBenign
Select item 1241432	NM_005401.5(PTPN14):c.978A>G (p.Arg326=)	PTPN14	Single nucleotide variant (synonymous variant)	Lymphedema-posterior choanal atresia syndrome +1 more	GBenign
Select item 1180900	NM_005401.5(PTPN14):c.*26G>A	PTPN14	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 599260	NM_005401.5(PTPN14):c.401_402insTT (p.Leu135fs)	PTPN14 (L135fs)	Insertion (frameshift variant)	Lymphedema-posterior choanal atresia syndrome	GPathogenic
Select item 6620	NM_005401.5(PTPN14):c.581+60_669+877del	PTPN14	Deletion (splice acceptor variant +1 more)	Lymphedema-posterior choanal atresia syndrome	GPathogenic

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Items: 21