5784[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	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 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 more	Copy number gain	See cases	GPathogenic
Select item 1679723	Single allele	LOC110121306, LOC120908906 +14 more	Duplication	not provided	GUncertain significance
Select item 147391	GRCh38/hg38 1q32.3-41(chr1:214023812-216598173)x3	CENPF, ESRRG +30 more	Copy number gain	See cases	GUncertain significance
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 154040	GRCh38/hg38 1q32.3-41(chr1:214028574-217327791)x3	CENPF, ESRRG +40 more	Copy number gain	See cases	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 1249681	NM_005401.5(PTPN14):c.*186del	PTPN14	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1180900	NM_005401.5(PTPN14):c.*26G>A	PTPN14	Single nucleotide variant (3 prime UTR variant)	Lymphedema-posterior choanal atresia syndrome +1 more	GBenign
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 1231393	NM_005401.5(PTPN14):c.3435+306G>A	PTPN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178080	NM_005401.5(PTPN14):c.3435+228G>A	PTPN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 740720	NM_005401.5(PTPN14):c.3432C>T (p.Asn1144=)	PTPN14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 717438	NM_005401.5(PTPN14):c.3344C>T (p.Pro1115Leu)	PTPN14 (P1115L)	Single nucleotide variant (missense variant)	not provided	GBenign
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 791232	NM_005401.5(PTPN14):c.3312C>T (p.Asn1104=)	PTPN14	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1178031	NM_005401.5(PTPN14):c.3272-268T>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 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 775166	NM_005401.5(PTPN14):c.3180C>T (p.His1060=)	PTPN14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 754707	NM_005401.5(PTPN14):c.3138G>A (p.Thr1046=)	PTPN14	Single nucleotide variant (synonymous variant)	not provided	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 3149130	NM_005401.5(PTPN14):c.3054A>C (p.Lys1018Asn)	PTPN14 (K1018N)	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 1224243	NM_005401.5(PTPN14):c.3037-64T>C	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 1287871	NM_005401.5(PTPN14):c.2908-302C>T	PTPN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243860	NM_005401.5(PTPN14):c.2907+61G>A	PTPN14	Single nucleotide variant (intron variant)	not provided	GBenign
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 754365	NM_005401.5(PTPN14):c.2832C>T (p.Pro944=)	PTPN14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747580	NM_005401.5(PTPN14):c.2802C>T (p.Ala934=)	PTPN14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1259740	NM_005401.5(PTPN14):c.2688+26C>T	PTPN14	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 791831	NM_005401.5(PTPN14):c.2630G>A (p.Arg877Gln)	PTPN14 (R877Q)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 2616932	NM_005401.5(PTPN14):c.2578G>A (p.Ala860Thr)	PTPN14 (A860T)	Single nucleotide variant (missense variant)	not specified	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 1276447	NM_005401.5(PTPN14):c.2545-81A>G	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 1265739	NM_005401.5(PTPN14):c.2544+171A>T	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 788721	NM_005401.5(PTPN14):c.2514C>T (p.Asp838=)	PTPN14	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 2279319	NM_005401.5(PTPN14):c.2446G>A (p.Val816Met)	PTPN14 (V816M)	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 2284275	NM_005401.5(PTPN14):c.2399A>G (p.Asn800Ser)	PTPN14 (N800S)	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 2532009	NM_005401.5(PTPN14):c.2287G>T (p.Ala763Ser)	PTPN14 (A763S)	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 740960	NM_005401.5(PTPN14):c.2217G>A (p.Ala739=)	PTPN14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 791233	NM_005401.5(PTPN14):c.2132AGG[4] (p.Glu715_Glu716del)	PTPN14	Microsatellite (inframe_deletion)	not provided	GBenign
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 3149121	NM_005401.5(PTPN14):c.2059C>T (p.Pro687Ser)	PTPN14 (P687S)	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 733016	NM_005401.5(PTPN14):c.2031C>T (p.Pro677=)	PTPN14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718897	NM_005401.5(PTPN14):c.2002C>T (p.Arg668Cys)	PTPN14 (R668C)	Single nucleotide variant (missense variant)	PTPN14-related condition +1 more	GLikely benign
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 2483471	NM_005401.5(PTPN14):c.1966A>G (p.Met656Val)	PTPN14 (M656V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 916569	NM_005401.5(PTPN14):c.1919G>A (p.Arg640His)	PTPN14 (R640H)	Single nucleotide variant (missense variant)	Tracheoesophageal fistula	GLikely pathogenic
Select item 756000	NM_005401.5(PTPN14):c.1902C>T (p.His634=)	PTPN14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 767748	NM_005401.5(PTPN14):c.1886C>T (p.Thr629Met)	PTPN14 (T629M)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2454414	NM_005401.5(PTPN14):c.1712C>A (p.Pro571Gln)	PTPN14 (P571Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731876	NM_005401.5(PTPN14):c.1701G>A (p.Pro567=)	PTPN14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2240605	NM_005401.5(PTPN14):c.1577G>A (p.Ser526Asn)	PTPN14 (S526N)	Single nucleotide variant (missense variant)	not specified	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 3033663	NM_005401.5(PTPN14):c.1563T>C (p.Asn521=)	PTPN14	Single nucleotide variant (synonymous variant)	PTPN14-related condition	GLikely benign
Select item 3041403	NM_005401.5(PTPN14):c.1515C>T (p.Val505=)	PTPN14	Single nucleotide variant (synonymous variant)	PTPN14-related condition	GLikely benign
Select item 773419	NM_005401.5(PTPN14):c.1512G>A (p.Gly504=)	PTPN14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3041618	NM_005401.5(PTPN14):c.1471C>T (p.Arg491Trp)	PTPN14 (R491W)	Single nucleotide variant (missense variant)	PTPN14-related condition	GLikely benign
Select item 715858	NM_005401.5(PTPN14):c.1383C>T (p.Ser461=)	PTPN14	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 717676	NM_005401.5(PTPN14):c.1253G>A (p.Ser418Asn)	PTPN14 (S418N)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 774804	NM_005401.5(PTPN14):c.1200G>A (p.Ser400=)	PTPN14	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 3057391	NM_005401.5(PTPN14):c.1152C>A (p.Thr384=)	PTPN14	Single nucleotide variant (synonymous variant)	PTPN14-related condition	GLikely benign
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 709021	NM_005401.5(PTPN14):c.1079A>C (p.His360Pro)	PTPN14 (H360P)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3034148	NM_005401.5(PTPN14):c.1067-4G>A	PTPN14	Single nucleotide variant (intron variant)	PTPN14-related condition	GLikely benign
Select item 1276291	NM_005401.5(PTPN14):c.1067-97T>C	PTPN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1691326	NM_005401.5(PTPN14):c.1066+3A>T	PTPN14	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 722335	NM_005401.5(PTPN14):c.1059C>T (p.Thr353=)	PTPN14	Single nucleotide variant (synonymous variant)	PTPN14-related condition +1 more	GBenign/Likely benign
Select item 1236264	NM_005401.5(PTPN14):c.988-28C>A	PTPN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265188	NM_005401.5(PTPN14):c.987+154G>A	PTPN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259032	NM_005401.5(PTPN14):c.987+140T>G	PTPN14	Single nucleotide variant (intron variant)	not provided	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 1259321	NM_005401.5(PTPN14):c.930-54G>C	PTPN14	Single nucleotide variant (intron variant)	not provided	GBenign

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