ClinVar for Gene (Select 5784) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3354953	NM_005401.5(PTPN14):c.1359G>C (p.Lys453Asn)	PTPN14 (K453N)	Single nucleotide variant (missense variant)	PTPN14-related disorder	GUncertain significance
Select item 3311421	NM_005401.5(PTPN14):c.107C>A (p.Thr36Lys)	PTPN14 (T36K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311420	NM_005401.5(PTPN14):c.1306G>A (p.Val436Met)	PTPN14 (V436M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311419	NM_005401.5(PTPN14):c.176C>T (p.Thr59Met)	PTPN14 (T59M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311418	NM_005401.5(PTPN14):c.2515A>G (p.Ser839Gly)	PTPN14 (S839G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311417	NM_005401.5(PTPN14):c.1924A>G (p.Ser642Gly)	PTPN14 (S642G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311416	NM_005401.5(PTPN14):c.2657T>C (p.Val886Ala)	PTPN14 (V886A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311414	NM_005401.5(PTPN14):c.2718G>C (p.Glu906Asp)	PTPN14 (E906D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
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 3149133	NM_005401.5(PTPN14):c.734T>C (p.Ile245Thr)	PTPN14 (I245T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149132	NM_005401.5(PTPN14):c.437T>G (p.Val146Gly)	PTPN14 (V146G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149131	NM_005401.5(PTPN14):c.3338G>A (p.Arg1113Gln)	PTPN14 (R1113Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149130	NM_005401.5(PTPN14):c.3054A>C (p.Lys1018Asn)	PTPN14 (K1018N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149128	NM_005401.5(PTPN14):c.29C>G (p.Thr10Arg)	PTPN14 (T10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149127	NM_005401.5(PTPN14):c.2260G>A (p.Gly754Ser)	PTPN14 (G754S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149126	NM_005401.5(PTPN14):c.2216C>A (p.Ala739Glu)	PTPN14 (A739E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149125	NM_005401.5(PTPN14):c.2207A>C (p.Gln736Pro)	PTPN14 (Q736P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149124	NM_005401.5(PTPN14):c.2183G>A (p.Arg728Gln)	PTPN14 (R728Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149121	NM_005401.5(PTPN14):c.2059C>T (p.Pro687Ser)	PTPN14 (P687S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149120	NM_005401.5(PTPN14):c.1774G>A (p.Gly592Ser)	PTPN14 (G592S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149119	NM_005401.5(PTPN14):c.1349G>T (p.Arg450Leu)	PTPN14 (R450L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057391	NM_005401.5(PTPN14):c.1152C>A (p.Thr384=)	PTPN14	Single nucleotide variant (synonymous variant)	PTPN14-related disorder	GLikely benign
Select item 3041618	NM_005401.5(PTPN14):c.1471C>T (p.Arg491Trp)	PTPN14 (R491W)	Single nucleotide variant (missense variant)	PTPN14-related disorder	GLikely benign
Select item 3041403	NM_005401.5(PTPN14):c.1515C>T (p.Val505=)	PTPN14	Single nucleotide variant (synonymous variant)	PTPN14-related disorder	GLikely benign
Select item 3034148	NM_005401.5(PTPN14):c.1067-4G>A	PTPN14	Single nucleotide variant (intron variant)	PTPN14-related disorder	GLikely benign
Select item 3033663	NM_005401.5(PTPN14):c.1563T>C (p.Asn521=)	PTPN14	Single nucleotide variant (synonymous variant)	PTPN14-related disorder	GLikely benign
Select item 3029983	NM_005401.5(PTPN14):c.139C>T (p.Leu47=)	PTPN14	Single nucleotide variant (synonymous variant)	PTPN14-related disorder	GLikely benign
Select item 3025009	NM_005401.5(PTPN14):c.3137C>G (p.Thr1046Arg)	PTPN14 (T1046R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2624042	NM_005401.5(PTPN14):c.2566G>C (p.Ala856Pro)	PTPN14 (A856P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616932	NM_005401.5(PTPN14):c.2578G>A (p.Ala860Thr)	PTPN14 (A860T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613764	NM_005401.5(PTPN14):c.782C>T (p.Thr261Ile)	PTPN14 (T261I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534748	NM_005401.5(PTPN14):c.226G>T (p.Val76Leu)	PTPN14 (V76L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532009	NM_005401.5(PTPN14):c.2287G>T (p.Ala763Ser)	PTPN14 (A763S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510155	NM_005401.5(PTPN14):c.2413G>A (p.Gly805Ser)	PTPN14 (G805S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483471	NM_005401.5(PTPN14):c.1966A>G (p.Met656Val)	PTPN14 (M656V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482350	NM_005401.5(PTPN14):c.569A>G (p.His190Arg)	PTPN14 (H190R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469687	NM_005401.5(PTPN14):c.2758A>C (p.Lys920Gln)	PTPN14 (K920Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455226	NM_005401.5(PTPN14):c.898A>G (p.Lys300Glu)	PTPN14 (K300E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454414	NM_005401.5(PTPN14):c.1712C>A (p.Pro571Gln)	PTPN14 (P571Q)	Single nucleotide variant (missense variant)	not specified	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 2412129	NM_005401.5(PTPN14):c.419G>A (p.Arg140Gln)	PTPN14 (R140Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402406	NM_005401.5(PTPN14):c.737G>A (p.Gly246Glu)	PTPN14 (G246E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397467	NM_005401.5(PTPN14):c.2504C>T (p.Ser835Phe)	PTPN14 (S835F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397263	NM_005401.5(PTPN14):c.2325G>A (p.Met775Ile)	PTPN14 (M775I)	Single nucleotide variant (missense variant)	not specified	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 2342791	NM_005401.5(PTPN14):c.1171G>A (p.Val391Ile)	PTPN14 (V391I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334729	NM_005401.5(PTPN14):c.2000G>C (p.Arg667Pro)	PTPN14 (R667P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329642	NM_005401.5(PTPN14):c.1113C>A (p.His371Gln)	PTPN14 (H371Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326296	NM_005401.5(PTPN14):c.2065C>G (p.Leu689Val)	PTPN14 (L689V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314276	NM_005401.5(PTPN14):c.181T>C (p.Tyr61His)	PTPN14 (Y61H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286802	NM_005401.5(PTPN14):c.2666C>T (p.Thr889Ile)	PTPN14 (T889I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284350	NM_005401.5(PTPN14):c.2617C>T (p.Leu873Phe)	PTPN14 (L873F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284275	NM_005401.5(PTPN14):c.2399A>G (p.Asn800Ser)	PTPN14 (N800S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279319	NM_005401.5(PTPN14):c.2446G>A (p.Val816Met)	PTPN14 (V816M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269050	NM_005401.5(PTPN14):c.1636C>G (p.Gln546Glu)	PTPN14 (Q546E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267256	NM_005401.5(PTPN14):c.3311A>G (p.Asn1104Ser)	PTPN14 (N1104S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259545	NM_005401.5(PTPN14):c.818A>G (p.Asn273Ser)	PTPN14 (N273S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240605	NM_005401.5(PTPN14):c.1577G>A (p.Ser526Asn)	PTPN14 (S526N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238889	NM_005401.5(PTPN14):c.2859A>G (p.Ile953Met)	PTPN14 (I953M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234555	NM_005401.5(PTPN14):c.3403G>A (p.Glu1135Lys)	PTPN14 (E1135K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225148	NM_005401.5(PTPN14):c.2032G>A (p.Glu678Lys)	PTPN14 (E678K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209546	NM_005401.5(PTPN14):c.455A>T (p.Asp152Val)	PTPN14 (D152V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2085963	NM_005401.5(PTPN14):c.3046C>T (p.Arg1016Ter)	PTPN14 (R1016*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1691326	NM_005401.5(PTPN14):c.1066+3A>T	PTPN14	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1679723	Single allele	LOC110121306, LOC120908906 +14 more	Duplication	not provided	GUncertain significance
Select item 1295138	NM_005401.5(PTPN14):c.566A>G (p.Glu189Gly)	PTPN14 (E189G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1290119	NM_005401.5(PTPN14):c.-154-19A>G	PTPN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288952	NM_005401.5(PTPN14):c.-154-234T>C	PTPN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288898	NM_005401.5(PTPN14):c.759-142G>T	PTPN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287871	NM_005401.5(PTPN14):c.2908-302C>T	PTPN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287501	NM_005401.5(PTPN14):c.-154-284A>T	PTPN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282337	NM_005401.5(PTPN14):c.670-183G>C	PTPN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280145	NM_005401.5(PTPN14):c.511-217G>A	PTPN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279501	NM_005401.5(PTPN14):c.2544+114G>A	PTPN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278557	NM_005401.5(PTPN14):c.3271+132A>G	PTPN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278301	NM_005401.5(PTPN14):c.582-7A>G	PTPN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276447	NM_005401.5(PTPN14):c.2545-81A>G	PTPN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276291	NM_005401.5(PTPN14):c.1067-97T>C	PTPN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275438	NM_005401.5(PTPN14):c.-154-94_-154-84del	PTPN14	Deletion (intron variant)	not provided	GBenign
Select item 1275074	NM_005401.5(PTPN14):c.511-158G>T	PTPN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274665	NM_005401.5(PTPN14):c.847-258T>C	PTPN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274316	NM_005401.5(PTPN14):c.758+5T>G	PTPN14	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1272820	NM_005401.5(PTPN14):c.-154-119C>A	PTPN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272798	NM_005401.5(PTPN14):c.3036+294A>C	PTPN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271534	NM_005401.5(PTPN14):c.2545-181G>A	PTPN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270682	NM_005401.5(PTPN14):c.174+91T>C	PTPN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267569	NM_005401.5(PTPN14):c.175-114T>C	PTPN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265739	NM_005401.5(PTPN14):c.2544+171A>T	PTPN14	Single nucleotide variant (intron variant)	not provided	GBenign

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