DPP7[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +510 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	LOC129390118, LOC130002920 +439 more	Copy number gain	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	INPP5E, KCNT1 +417 more	Copy number gain	See cases	GPathogenic
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	LOC130003077, LOC130003078 +405 more	Copy number gain	See cases	GPathogenic
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 more	Copy number gain	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	UAP1L1, UBAC1 +371 more	Copy number loss	See cases	GPathogenic
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LOC124375251, LOC126860788 +265 more	Copy number loss	See cases	GPathogenic
Select item 59137	GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	ABCA2, AGPAT2 +311 more	Copy number loss	See cases	GPathogenic
Select item 155327	GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4	QSOX2, RABL6 +324 more	Copy number gain	See cases	GLikely pathogenic
Select item 161082	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	LOC130003070, LOC130003071 +283 more	Copy number loss	See cases	GPathogenic
Select item 57416	GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1	ABCA2, AGPAT2 +284 more	Copy number loss	See cases	GPathogenic
Select item 34625	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	ABCA2, AGPAT2 +283 more	Copy number loss	See cases	GPathogenic
Select item 154911	GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1	ABCA2, ANAPC2 +176 more	Copy number loss	See cases	GPathogenic
Select item 59140	GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1	ABCA2, ANAPC2 +166 more	Copy number loss	See cases	GPathogenic
Select item 154677	GRCh38/hg38 9q34.3(chr9:137092629-137270028)x3	ANAPC2, CIMIP2A +43 more	Copy number gain	See cases	GBenign
Select item 59090	GRCh38/hg38 9q34.3(chr9:137092629-137375788)x1	ANAPC2, CIMIP2A +60 more	Copy number loss	See cases	GUncertain significance
Select item 3273636	NM_013379.3(DPP7):c.1456G>A (p.Gly486Arg)	DPP7 (G486R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613981	NM_013379.3(DPP7):c.1435G>C (p.Glu479Gln)	DPP7 (E479Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397067	NM_013379.3(DPP7):c.1432C>T (p.Arg478Cys)	DPP7 (R478C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252738	NM_013379.3(DPP7):c.1408G>A (p.Gly470Ser)	DPP7 (G470S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345042	NM_013379.3(DPP7):c.1385G>A (p.Arg462Gln)	DPP7 (R462Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229639	NM_013379.3(DPP7):c.1382C>T (p.Ala461Val)	DPP7 (A461V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300540	NM_013379.3(DPP7):c.1372G>A (p.Val458Met)	DPP7 (V458M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486922	NM_013379.3(DPP7):c.1329C>G (p.His443Gln)	DPP7 (H443Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510097	NM_013379.3(DPP7):c.1318G>C (p.Gly440Arg)	DPP7 (G440R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273638	NM_013379.3(DPP7):c.1306G>T (p.Val436Phe)	DPP7 (V436F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537170	NM_013379.3(DPP7):c.1306G>A (p.Val436Ile)	DPP7 (V436I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3085554	NM_013379.3(DPP7):c.1294T>C (p.Ser432Pro)	DPP7 (S432P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372333	NM_013379.3(DPP7):c.1276C>T (p.Arg426Trp)	DPP7 (R426W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405717	NM_013379.3(DPP7):c.1234T>A (p.Phe412Ile)	DPP7 (F412I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211354	NM_013379.3(DPP7):c.1128G>C (p.Glu376Asp)	DPP7 (E376D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085553	NM_013379.3(DPP7):c.1096G>C (p.Asp366His)	DPP7 (D366H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085552	NM_013379.3(DPP7):c.1078G>A (p.Ala360Thr)	DPP7 (A360T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273642	NM_013379.3(DPP7):c.1062G>T (p.Glu354Asp)	DPP7 (E354D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273639	NM_013379.3(DPP7):c.1040G>C (p.Trp347Ser)	DPP7 (W347S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484741	NM_013379.3(DPP7):c.1022G>T (p.Gly341Val)	DPP7 (G341V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481484	NM_013379.3(DPP7):c.1021G>A (p.Gly341Ser)	DPP7 (G341S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368957	NM_013379.3(DPP7):c.950C>T (p.Ser317Leu)	DPP7 (S317L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085562	NM_013379.3(DPP7):c.947C>T (p.Ala316Val)	DPP7 (A316V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392579	NM_013379.3(DPP7):c.940T>C (p.Tyr314His)	DPP7 (Y314H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372598	NM_013379.3(DPP7):c.911C>T (p.Thr304Met)	DPP7 (T304M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271895	NM_013379.3(DPP7):c.904A>G (p.Arg302Gly)	DPP7 (R302G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520468	NM_013379.3(DPP7):c.783C>A (p.Phe261Leu)	DPP7 (F261L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085561	NM_013379.3(DPP7):c.719G>T (p.Arg240Leu)	DPP7 (R240L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369740	NM_013379.3(DPP7):c.713C>T (p.Thr238Met)	DPP7 (T238M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085559	NM_013379.3(DPP7):c.701G>A (p.Gly234Glu)	DPP7 (G234E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273641	NM_013379.3(DPP7):c.654G>C (p.Gln218His)	DPP7 (Q218H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273645	NM_013379.3(DPP7):c.626T>G (p.Phe209Cys)	DPP7 (F209C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616220	NM_013379.3(DPP7):c.584T>C (p.Leu195Pro)	DPP7 (L195P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352838	NM_013379.3(DPP7):c.581G>C (p.Gly194Ala)	DPP7 (G194A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331507	NM_013379.3(DPP7):c.556A>C (p.Ser186Arg)	DPP7 (S186R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214616	NM_013379.3(DPP7):c.554C>T (p.Ala185Val)	DPP7 (A185V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489969	NM_013379.3(DPP7):c.424C>G (p.Leu142Val)	DPP7 (L142V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409939	NM_013379.3(DPP7):c.407C>T (p.Ala136Val)	DPP7 (A136V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553669	NM_013379.3(DPP7):c.323G>T (p.Arg108Leu)	DPP7 (R108L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240084	NM_013379.3(DPP7):c.292C>T (p.Arg98Trp)	DPP7 (R98W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359413	NM_013379.3(DPP7):c.236G>A (p.Gly79Asp)	DPP7 (G79D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085557	NM_013379.3(DPP7):c.214T>A (p.Phe72Ile)	DPP7 (F72I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456143	NM_013379.3(DPP7):c.206G>A (p.Gly69Glu)	DPP7 (G69E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279492	NM_013379.3(DPP7):c.196C>T (p.Arg66Trp)	DPP7 (R66W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273644	NM_013379.3(DPP7):c.185G>C (p.Arg62Thr)	DPP7 (R62T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273637	NM_013379.3(DPP7):c.145G>A (p.Gly49Ser)	DPP7, LOC130003081 (G49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402599	NM_013379.3(DPP7):c.143T>C (p.Phe48Ser)	DPP7, LOC130003081 (F48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357771	NM_013379.3(DPP7):c.140G>C (p.Arg47Pro)	DPP7, LOC130003081 (R47P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273643	NM_013379.3(DPP7):c.116G>C (p.Arg39Pro)	DPP7, LOC130003081 (R39P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308862	NM_013379.3(DPP7):c.106T>C (p.Phe36Leu)	DPP7, LOC130003081 (F36L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293555	NM_013379.3(DPP7):c.82G>A (p.Asp28Asn)	DPP7, LOC130003081 (D28N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361303	NM_013379.3(DPP7):c.71G>A (p.Arg24His)	DPP7, LOC130003081 (R24H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273640	NM_013379.3(DPP7):c.65G>C (p.Gly22Ala)	DPP7, LOC130003082 (G22A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085558	NM_013379.3(DPP7):c.64G>C (p.Gly22Arg)	DPP7, LOC130003082 (G22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553527	NM_013379.3(DPP7):c.61G>A (p.Ala21Thr)	DPP7, LOC130003082 (A21T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 741568	NM_013379.3(DPP7):c.51C>T (p.Arg17=)	DPP7, LOC130003082	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2271262	NM_013379.3(DPP7):c.17G>C (p.Trp6Ser)	DPP7, LOC130003082 (W6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085556	NM_013379.3(DPP7):c.14C>T (p.Pro5Leu)	DPP7, LOC130003082 (P5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	ABCA2, ABL1 +147 more	Duplication	not provided	GUncertain significance
Select item 3245245	NC_000009.11:g.(?_139981452)_(140036619_?)dup	DPP7, GRIN1 +1 more	Duplication	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2684590	GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3	ABCA2, AGPAT2 +95 more	Copy number gain	not provided	GPathogenic
Select item 2576631	GRCh37/hg19 9q34.3(chr9:139972953-140954193)x3	ANAPC2, ARRDC1 +31 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576630	GRCh37/hg19 9q34.3(chr9:139685408-141050580)x3	ABCA2, AJM1 +52 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576628	GRCh37/hg19 9q34.3(chr9:139942000-141074000)x3	ANAPC2, ARRDC1 +33 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	ABCA2, ADAMTS13 +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426327	NC_000009.11:g.(?_138392557)_(141016451_?)del	ABCA2, AGPAT2 +85 more	Deletion	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2423367	NC_000009.11:g.(?_139089171)_(141016451_?)del	EGFL7, PAXX +73 more	Deletion	Rafiq syndrome	GPathogenic

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