DPP9[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 110

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 60071	GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1	PIP5K1C, PLIN4 +142 more	Copy number loss	See cases	GPathogenic
Select item 155547	GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1	ANKRD24, ARRDC5 +150 more	Copy number loss	See cases	GLikely pathogenic
Select item 144751	GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3	ANKRD24, ARRDC5 +145 more	Copy number gain	See cases	GUncertain significance
Select item 59083	GRCh38/hg38 19p13.3(chr19:4008560-4763159)x3	ANKRD24, CHAF1A +99 more	Copy number gain	See cases	GPathogenic
Select item 57480	GRCh38/hg38 19p13.3(chr19:4417986-4721866)x1	CHAF1A, DPP9 +33 more	Copy number loss	See cases	GUncertain significance
Select item 2500000	NM_139159.5(DPP9):c.2551C>T (p.Gln851Ter)	DPP9, DPP9-AS1 (Q851* +7 more)	Single nucleotide variant (nonsense +2 more)	Hatipoglu immunodeficiency syndrome	GPathogenic
Select item 2486131	NM_139159.5(DPP9):c.2494C>T (p.Leu832Phe)	DPP9, DPP9-AS1 (L832F +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2286821	NM_139159.5(DPP9):c.2425G>A (p.Gly809Ser)	DPP9, DPP9-AS1 (G780S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2565872	NM_139159.5(DPP9):c.2404G>A (p.Val802Ile)	DPP9, DPP9-AS1 (V722I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595453	NM_139159.5(DPP9):c.2359G>A (p.Val787Ile)	DPP9, DPP9-AS1 (V778I +7 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2609804	NM_139159.5(DPP9):c.2220C>A (p.Phe740Leu)	DPP9, DPP9-AS1 (F740L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3256926	NM_139159.5(DPP9):c.2178G>A (p.Met726Ile)	DPP9, DPP9-AS1 (M646I +6 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Susceptibility to severe COVID-19	GLikely pathogenic
Select item 2245951	NM_139159.5(DPP9):c.2119G>A (p.Asp707Asn)	DPP9, DPP9-AS1 (D678N +6 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 735990	NM_139159.5(DPP9):c.2071T>C (p.Leu691=)	DPP9, DPP9-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3085589	NM_139159.5(DPP9):c.2023G>A (p.Gly675Ser)	DPP9, DPP9-AS1 (G662S +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3273660	NM_139159.5(DPP9):c.1990A>G (p.Lys664Glu)	DPP9, DPP9-AS1 (K655E +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3273655	NM_139159.5(DPP9):c.1975G>A (p.Ala659Thr)	DPP9, DPP9-AS1 (A579T +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2531705	NM_139159.5(DPP9):c.1945C>T (p.Arg649Trp)	DPP9, DPP9-AS1 (R569W +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2308531	NM_139159.5(DPP9):c.1933C>T (p.Arg645Cys)	DPP9, DPP9-AS1 (R565C +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2623843	NM_139159.5(DPP9):c.1892C>T (p.Pro631Leu)	DPP9, DPP9-AS1 (P551L +4 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2605325	NM_139159.5(DPP9):c.1855C>A (p.Arg619Ser)	DPP9 (R539S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352206	NM_139159.5(DPP9):c.1834G>A (p.Asp612Asn)	DPP9 (D532N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273661	NM_139159.5(DPP9):c.1830C>A (p.Asp610Glu)	DPP9 (D610E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 713315	NM_139159.5(DPP9):c.1824C>A (p.Gly608=)	DPP9	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3085588	NM_139159.5(DPP9):c.1804C>T (p.His602Tyr)	DPP9 (H522Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273662	NM_139159.5(DPP9):c.1801G>A (p.Val601Met)	DPP9 (V590M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085587	NM_139159.5(DPP9):c.1783G>A (p.Val595Met)	DPP9 (V566M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222435	NM_139159.5(DPP9):c.1741A>G (p.Met581Val)	DPP9 (M568V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482078	NM_139159.5(DPP9):c.1732A>T (p.Ser578Cys)	DPP9 (S498C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085585	NM_139159.5(DPP9):c.1706G>A (p.Arg569His)	DPP9 (R540H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 717743	NM_139159.5(DPP9):c.1696G>A (p.Glu566Lys)	DPP9 (E566K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2557825	NM_139159.5(DPP9):c.1693G>A (p.Gly565Ser)	DPP9 (G485S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085584	NM_139159.5(DPP9):c.1625T>G (p.Val542Gly)	DPP9 (V531G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085583	NM_139159.5(DPP9):c.1526A>G (p.Lys509Arg)	DPP9 (K498R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522118	NM_139159.5(DPP9):c.1486G>A (p.Asp496Asn)	DPP9, LOC126862840 (D467N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085582	NM_139159.5(DPP9):c.1459A>G (p.Thr487Ala)	DPP9, LOC126862840 (T407A +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3085581	NM_139159.5(DPP9):c.1431G>T (p.Lys477Asn)	DPP9, LOC126862840 (K477N +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2455487	NM_139159.5(DPP9):c.1399G>C (p.Glu467Gln)	DPP9, LOC126862840 (E438Q +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3085580	NM_139159.5(DPP9):c.1358A>T (p.His453Leu)	DPP9, LOC126862840 (H424L +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3024747	NM_139159.5(DPP9):c.1258G>C (p.Glu420Gln)	DPP9 (E391Q +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2293036	NM_139159.5(DPP9):c.1256C>T (p.Thr419Ile)	DPP9 (T419I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3239317	NM_139159.5(DPP9):c.1230C>G (p.Leu410=)	DPP9	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2366317	NM_139159.5(DPP9):c.1222G>A (p.Val408Ile)	DPP9 (V397I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2360267	NM_139159.5(DPP9):c.1186A>G (p.Met396Val)	DPP9 (M385V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2220989	NM_139159.5(DPP9):c.1163G>A (p.Arg388Gln)	DPP9 (R377Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2493914	NM_139159.5(DPP9):c.1150G>T (p.Ala384Ser)	DPP9 (A373S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331786	NM_139159.5(DPP9):c.997C>T (p.Arg333Trp)	DPP9 (R333W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 769947	NM_139159.5(DPP9):c.986C>T (p.Thr329Met)	DPP9 (T329M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 779179	NM_139159.5(DPP9):c.966T>C (p.Pro322=)	DPP9	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2395763	NM_139159.5(DPP9):c.928G>A (p.Asp310Asn)	DPP9 (D281N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3085590	NM_139159.5(DPP9):c.922G>C (p.Glu308Gln)	DPP9 (E297Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353976	NM_139159.5(DPP9):c.902C>T (p.Thr301Met)	DPP9 (T272M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2516969	NM_139159.5(DPP9):c.820G>A (p.Val274Ile)	DPP9 (V263I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280485	NM_139159.5(DPP9):c.766C>A (p.Gln256Lys)	DPP9, LOC126862841 (Q227K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2559768	NM_139159.5(DPP9):c.758T>A (p.Phe253Tyr)	DPP9, LOC126862841 (F224Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2649079	NM_139159.5(DPP9):c.746G>A (p.Arg249Gln)	DPP9, LOC126862841 (R220Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2515359	NM_139159.5(DPP9):c.745C>T (p.Arg249Trp)	DPP9, LOC126862841 (R220W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2343328	NM_139159.5(DPP9):c.730G>A (p.Glu244Lys)	DPP9, LOC126862841 (E215K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406383	NM_139159.5(DPP9):c.707G>A (p.Ser236Asn)	DPP9, LOC126862841 (S236N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2616049	NM_139159.5(DPP9):c.644G>C (p.Gly215Ala)	DPP9, LOC126862841 (G186A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2499998	NM_139159.5(DPP9):c.641C>G (p.Ser214Ter)	DPP9, LOC126862841 (S214* +1 more)	Single nucleotide variant (nonsense +1 more)	Hatipoglu immunodeficiency syndrome	GConflicting classifications of pathogenicity
Select item 2460122	NM_139159.5(DPP9):c.583G>A (p.Gly195Ser)	DPP9, LOC126862841 (G166S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371600	NM_139159.5(DPP9):c.583G>T (p.Gly195Cys)	DPP9, LOC126862841 (G166C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325154	NM_139159.5(DPP9):c.580G>A (p.Gly194Ser)	DPP9, LOC126862841 (G194S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3250611	NM_139159.5(DPP9):c.579C>T (p.Asp193=)	DPP9, LOC126862841	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2495074	NM_139159.5(DPP9):c.575G>T (p.Arg192Leu)	DPP9, LOC126862841 (R163L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788833	NM_139159.5(DPP9):c.551C>G (p.Ala184Gly)	DPP9, LOC126862841 (A184G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3273659	NM_139159.5(DPP9):c.526G>A (p.Glu176Lys)	DPP9, LOC126862841 (E147K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219098	NM_139159.5(DPP9):c.514G>A (p.Asp172Asn)	DPP9, LOC126862841 (D143N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2499999	NM_139159.5(DPP9):c.499G>A (p.Gly167Ser)	DPP9, LOC126862841 (G167S +1 more)	Single nucleotide variant (missense variant +1 more)	Hatipoglu immunodeficiency syndrome	GConflicting classifications of pathogenicity
Select item 3341730	NM_139159.5(DPP9):c.354T>G (p.Ser118=)	DPP9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2500001	NM_139159.5(DPP9):c.331C>T (p.Arg111Ter)	DPP9 (R111* +1 more)	Single nucleotide variant (nonsense +1 more)	Hatipoglu immunodeficiency syndrome	GPathogenic
Select item 2386630	NM_139159.5(DPP9):c.322T>C (p.Tyr108His)	DPP9 (Y79H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479352	NM_139159.5(DPP9):c.299G>A (p.Arg100His)	DPP9, LOC126862842 (R71H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207323	NM_139159.5(DPP9):c.295C>T (p.His99Tyr)	DPP9, LOC126862842 (H70Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273654	NM_139159.5(DPP9):c.286C>T (p.Pro96Ser)	DPP9, LOC126862842 (P67S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475057	NM_139159.5(DPP9):c.281C>A (p.Ser94Tyr)	DPP9, LOC126862842 (S65Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235576	NM_139159.5(DPP9):c.257A>G (p.Gln86Arg)	DPP9, LOC126862842 (Q86R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778595	NM_139159.5(DPP9):c.249C>T (p.His83=)	DPP9, LOC126862842	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3250572	NM_139159.5(DPP9):c.243G>A (p.Ala81=)	DPP9, LOC126862842	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2239301	NM_139159.5(DPP9):c.242C>T (p.Ala81Val)	DPP9, LOC126862842 (A52V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209418	NM_139159.5(DPP9):c.221C>T (p.Ser74Leu)	DPP9, LOC126862842 (S45L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221200	NM_139159.5(DPP9):c.211C>T (p.Arg71Cys)	DPP9, LOC126862842 (R71C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556064	NM_139159.5(DPP9):c.176C>T (p.Ser59Leu)	DPP9, LOC126862842 (S30L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508170	NM_139159.5(DPP9):c.171G>C (p.Lys57Asn)	DPP9, LOC126862842 (K57N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343666	NM_139159.5(DPP9):c.127G>A (p.Ala43Thr)	DPP9, LOC126862842 (A14T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2590373	NM_139159.5(DPP9):c.110C>T (p.Thr37Met)	DPP9, LOC126862842 (T37M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085591	NM_139159.5(DPP9):c.98C>T (p.Thr33Ile)	DPP9, LOC126862842 (T33I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486157	NM_139159.5(DPP9):c.79G>T (p.Ala27Ser)	DPP9, LOC126862842 (A27S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2377022	NM_139159.5(DPP9):c.62C>T (p.Ser21Leu)	DPP9, LOC126862842 (S21L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2649080	NM_139159.5(DPP9):c.57-4G>A	DPP9, LOC126862842	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3273656	NM_139159.5(DPP9):c.22C>T (p.Arg8Cys)	DPP9 (R8C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2593413	NM_139159.5(DPP9):c.5G>A (p.Arg2Gln)	DPP9 (R2Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3242666	NC_000019.9:g.(?_3917720)_(4818389_?)dup	ANKRD24, ATCAY +27 more	Duplication	not provided	GUncertain significance
Select item 3062397	GRCh37/hg19 19p13.3(chr19:4337998-4809241)x1	CHAF1A, DPP9 +11 more	Copy number loss	not specified	GUncertain significance

<< First< Prev

Page of 2