PTPN13[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 151718	GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1	ABRAXAS1, AFF1 +146 more	Copy number loss	See cases	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 147434	GRCh38/hg38 4q21.23-22.1(chr4:84329551-87679204)x1	AFF1, AFF1-AS1 +62 more	Copy number loss	See cases	GPathogenic
Select item 152923	GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1	ABCG2, AFF1 +126 more	Copy number loss	See cases	GPathogenic
Select item 152920	GRCh38/hg38 4q21.23-21.3(chr4:85972086-87031375)x1	AFF1, AFF1-AS1 +21 more	Copy number loss	See cases	GPathogenic
Select item 152893	GRCh38/hg38 4q21.3(chr4:86276186-86884105)x1	C4orf36, LOC129992795 +5 more	Copy number loss	See cases	GUncertain significance
Select item 2654887	NM_080683.3(PTPN13):c.21G>A (p.Glu7=)	PTPN13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3149074	NM_080683.3(PTPN13):c.218A>G (p.Asn73Ser)	PTPN13 (N73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311388	NM_080683.3(PTPN13):c.242C>T (p.Ala81Val)	PTPN13 (A81V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708787	NM_080683.3(PTPN13):c.268C>G (p.Leu90Val)	PTPN13 (L90V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2509535	NM_080683.3(PTPN13):c.272C>G (p.Thr91Ser)	PTPN13 (T91S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2260575	NM_080683.3(PTPN13):c.379C>A (p.His127Asn)	PTPN13 (H127N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149089	NM_080683.3(PTPN13):c.440G>A (p.Arg147Gln)	PTPN13 (R147Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149092	NM_080683.3(PTPN13):c.505G>A (p.Val169Met)	PTPN13 (V169M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311394	NM_080683.3(PTPN13):c.524T>C (p.Leu175Pro)	PTPN13 (L175P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602993	NM_080683.3(PTPN13):c.547A>G (p.Thr183Ala)	PTPN13 (T183A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291961	NM_080683.3(PTPN13):c.569G>A (p.Ser190Asn)	PTPN13 (S190N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149099	NM_080683.3(PTPN13):c.572A>T (p.Glu191Val)	PTPN13 (E191V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149098	NM_080683.3(PTPN13):c.572A>C (p.Glu191Ala)	PTPN13 (E191A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149101	NM_080683.3(PTPN13):c.602G>A (p.Arg201Gln)	PTPN13 (R201Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511470	NM_080683.3(PTPN13):c.608G>A (p.Arg203Gln)	PTPN13 (R203Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527903	NM_080683.3(PTPN13):c.614G>A (p.Arg205Gln)	PTPN13 (R205Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247300	NM_080683.3(PTPN13):c.661G>C (p.Asp221His)	PTPN13 (D221H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278192	NM_080683.3(PTPN13):c.662A>G (p.Asp221Gly)	PTPN13 (D221G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326546	NM_080683.3(PTPN13):c.676C>T (p.Pro226Ser)	PTPN13 (P226S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309499	NM_080683.3(PTPN13):c.744T>G (p.Asp248Glu)	PTPN13 (D248E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597622	NM_080683.3(PTPN13):c.794G>A (p.Arg265His)	PTPN13 (R265H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 726056	NM_080683.3(PTPN13):c.819C>T (p.Ser273=)	PTPN13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3149116	NM_080683.3(PTPN13):c.826C>G (p.Gln276Glu)	PTPN13 (Q276E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049259	NM_080683.3(PTPN13):c.865G>A (p.Gly289Ser)	PTPN13 (G289S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3311389	NM_080683.3(PTPN13):c.904T>C (p.Ser302Pro)	PTPN13 (S302P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285763	NM_080683.3(PTPN13):c.931A>G (p.Arg311Gly)	PTPN13 (R311G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149117	NM_080683.3(PTPN13):c.953C>T (p.Thr318Ile)	PTPN13 (T318I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720188	NM_080683.3(PTPN13):c.968G>A (p.Arg323His)	PTPN13 (R323H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3149118	NM_080683.3(PTPN13):c.985G>A (p.Val329Ile)	PTPN13 (V329I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462337	NM_080683.3(PTPN13):c.995G>A (p.Arg332Gln)	PTPN13 (R332Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050604	NM_080683.3(PTPN13):c.1012A>G (p.Arg338Gly)	PTPN13 (R338G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3311405	NM_080683.3(PTPN13):c.1037A>G (p.Asp346Gly)	PTPN13 (D346G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311409	NM_080683.3(PTPN13):c.1046T>G (p.Ile349Arg)	PTPN13 (I349R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463163	NM_080683.3(PTPN13):c.1096C>G (p.Arg366Gly)	PTPN13 (R366G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480733	NM_080683.3(PTPN13):c.1101A>C (p.Glu367Asp)	PTPN13 (E367D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149068	NM_080683.3(PTPN13):c.1156A>G (p.Lys386Glu)	PTPN13 (K386E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480188	NM_080683.3(PTPN13):c.1180G>A (p.Ala394Thr)	PTPN13 (A394T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311392	NM_080683.3(PTPN13):c.1331G>A (p.Ser444Asn)	PTPN13 (S444N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373715	NM_080683.3(PTPN13):c.1400C>T (p.Thr467Ile)	PTPN13 (T467I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774304	NM_080683.3(PTPN13):c.1499G>C (p.Arg500Pro)	PTPN13 (R500P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3149069	NM_080683.3(PTPN13):c.1528A>G (p.Lys510Glu)	PTPN13 (K510E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214773	NM_080683.3(PTPN13):c.1552A>G (p.Arg518Gly)	PTPN13 (R518G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149070	NM_080683.3(PTPN13):c.1559C>T (p.Pro520Leu)	PTPN13 (P520L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398905	NM_080683.3(PTPN13):c.1607G>T (p.Arg536Met)	PTPN13 (R536M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3238889	NM_080683.3(PTPN13):c.1625A>G (p.Glu542Gly)	PTPN13 (E542G)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
Select item 3149071	NM_080683.3(PTPN13):c.1656A>G (p.Ile552Met)	PTPN13 (I552M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531332	NM_080683.3(PTPN13):c.1723A>G (p.Asn575Asp)	PTPN13 (N575D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350919	NM_080683.3(PTPN13):c.1741G>A (p.Gly581Arg)	PTPN13 (G581R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726057	NM_080683.3(PTPN13):c.1795G>C (p.Asp599His)	PTPN13 (D599H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3311408	NM_080683.3(PTPN13):c.1836G>T (p.Leu612Phe)	PTPN13 (L612F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301775	NM_080683.3(PTPN13):c.1904T>C (p.Val635Ala)	PTPN13 (V635A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3238890	NM_080683.3(PTPN13):c.1931C>T (p.Pro644Leu)	PTPN13 (P644L)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
Select item 3311399	NM_080683.3(PTPN13):c.1972T>C (p.Phe658Leu)	PTPN13 (F658L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473986	NM_080683.3(PTPN13):c.2056G>A (p.Asp686Asn)	PTPN13 (D686N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478796	NM_080683.3(PTPN13):c.2068G>C (p.Glu690Gln)	PTPN13 (E690Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149072	NM_080683.3(PTPN13):c.2069A>G (p.Glu690Gly)	PTPN13 (E690G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474922	NM_080683.3(PTPN13):c.2119C>G (p.Leu707Val)	PTPN13 (L707V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389838	NM_080683.3(PTPN13):c.2124G>T (p.Gln708His)	PTPN13 (Q708H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778144	NM_080683.3(PTPN13):c.2151+3A>G	PTPN13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3149073	NM_080683.3(PTPN13):c.2168A>G (p.Tyr723Cys)	PTPN13 (Y723C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207339	NM_080683.3(PTPN13):c.2236G>A (p.Glu746Lys)	PTPN13 (E746K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149075	NM_080683.3(PTPN13):c.2252A>G (p.His751Arg)	PTPN13 (H751R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149076	NM_080683.3(PTPN13):c.2289G>C (p.Glu763Asp)	PTPN13 (E763D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319153	NM_080683.3(PTPN13):c.2351A>G (p.His784Arg)	PTPN13 (H784R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313062	NM_080683.3(PTPN13):c.2374G>A (p.Gly792Arg)	PTPN13 (G792R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050294	NM_080683.3(PTPN13):c.2404G>A (p.Val802Ile)	PTPN13 (V802I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3149077	NM_080683.3(PTPN13):c.2426A>G (p.Asn809Ser)	PTPN13 (N809S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351144	NM_080683.3(PTPN13):c.2450G>A (p.Arg817His)	PTPN13 (R817H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322955	NM_080683.3(PTPN13):c.2480C>A (p.Ser827Tyr)	PTPN13 (S827Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347500	NM_080683.3(PTPN13):c.2543C>T (p.Thr848Ile)	PTPN13 (T848I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786404	NM_080683.3(PTPN13):c.2594A>G (p.His865Arg)	PTPN13 (H865R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2469018	NM_080683.3(PTPN13):c.2709G>A (p.Met903Ile)	PTPN13 (M903I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221420	NM_080683.3(PTPN13):c.2714G>A (p.Arg905Gln)	PTPN13 (R905Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149079	NM_080683.3(PTPN13):c.2806T>C (p.Ser936Pro)	PTPN13 (S936P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263925	NM_080683.3(PTPN13):c.2810G>A (p.Cys937Tyr)	PTPN13 (C937Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1049536	NM_080683.3(PTPN13):c.2834C>T (p.Pro945Leu)	PTPN13 (P945L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3149080	NM_080683.3(PTPN13):c.2891G>A (p.Arg964Lys)	PTPN13 (R964K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149081	NM_080683.3(PTPN13):c.2912A>G (p.His971Arg)	PTPN13 (H971R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233106	NM_080683.3(PTPN13):c.2941C>T (p.His981Tyr)	PTPN13 (H981Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522433	NM_080683.3(PTPN13):c.2942A>G (p.His981Arg)	PTPN13 (H981R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149082	NM_080683.3(PTPN13):c.2971C>A (p.Pro991Thr)	PTPN13 (P991T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311413	NM_080683.3(PTPN13):c.2972C>T (p.Pro991Leu)	PTPN13 (P991L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311406	NM_080683.3(PTPN13):c.2977C>T (p.Pro993Ser)	PTPN13 (P993S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473542	NM_080683.3(PTPN13):c.3083C>T (p.Ala1028Val)	PTPN13 (A1028V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786405	NM_080683.3(PTPN13):c.3124G>T (p.Asp1042Tyr)	PTPN13 (D1042Y)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1050306	NM_080683.3(PTPN13):c.3160G>A (p.Val1054Ile)	PTPN13 (V1054I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780035	NM_080683.3(PTPN13):c.3188G>A (p.Gly1063Glu)	PTPN13 (G1063E)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2600179	NM_080683.3(PTPN13):c.3225T>G (p.Asp1075Glu)	PTPN13 (D1075E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335212	NM_080683.3(PTPN13):c.3293A>C (p.Lys1098Thr)	PTPN13 (K1098T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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