DPH7[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	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +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)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +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	LOC130003109, LOC130003110 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	LOC130002885, LOC130002886 +789 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	ABCA2, ABL1 +656 more	Copy number gain	See cases	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC110121282, LOC111365185 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	BRD3, BRD3OS +510 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	ABCA2, ADAMTSL2 +439 more	Copy number gain	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	LOC130002964, LOC130002965 +417 more	Copy number gain	See cases	GPathogenic
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	ABCA2, AGPAT2 +405 more	Copy number gain	See cases	GPathogenic
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	LOC130003068, LOC130003069 +392 more	Copy number gain	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	ABCA2, AGPAT2 +371 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	LOC130003113, LOC130003114 +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 59151	GRCh38/hg38 9q34.3(chr9:137215877-137830604)x1	ARRDC1, ARRDC1-AS1 +92 more	Copy number loss	See cases	GPathogenic
Select item 59141	GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1	LOC130003144, LOC130003145 +101 more	Copy number loss	See cases	GPathogenic
Select item 155260	GRCh38/hg38 9q34.3(chr9:137345965-138159083)x1	ARRDC1, ARRDC1-AS1 +67 more	Copy number loss	See cases	GPathogenic
Select item 59091	GRCh38/hg38 9q34.3(chr9:137345965-137640771)x1	ARRDC1, ARRDC1-AS1 +41 more	Copy number loss	See cases	GUncertain significance
Select item 151395	GRCh38/hg38 9q34.3(chr9:137372891-137757091)x3	ARRDC1, ARRDC1-AS1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 147707	GRCh38/hg38 9q34.3(chr9:137391682-138114463)x3	ARRDC1, ARRDC1-AS1 +66 more	Copy number gain	See cases	GPathogenic
Select item 446701	GRCh38/hg38 9q34.3(chr9:137484248-137696525)x3	ARRDC1, ARRDC1-AS1 +27 more	Copy number gain	See cases	GUncertain significance
Select item 59152	GRCh38/hg38 9q34.3(chr9:137484248-138179445)x1	LOC130003125, LOC130003126 +49 more	Copy number loss	See cases	GPathogenic
Select item 59153	GRCh38/hg38 9q34.3(chr9:137514943-138121473)x1	ARRDC1, ARRDC1-AS1 +46 more	Copy number loss	See cases	GPathogenic
Select item 2596369	NM_138778.5(DPH7):c.1328C>T (p.Ala443Val)	DPH7 (A245V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3085494	NM_138778.5(DPH7):c.1313C>T (p.Ser438Phe)	DPH7 (S240F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315701	NM_138778.5(DPH7):c.1298T>G (p.Leu433Arg)	DPH7 (L235R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333734	NM_138778.5(DPH7):c.1282G>A (p.Asp428Asn)	DPH7 (D252N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2339945	NM_138778.5(DPH7):c.1261G>A (p.Gly421Ser)	DPH7 (G223S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273611	NM_138778.5(DPH7):c.1229T>C (p.Leu410Pro)	DPH7 (L276P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513075	NM_138778.5(DPH7):c.1114G>A (p.Glu372Lys)	DPH7 (E350K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390660	NM_138778.5(DPH7):c.1058C>T (p.Ser353Leu)	DPH7 (S353L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342853	NM_138778.5(DPH7):c.1036C>T (p.Arg346Cys)	DPH7 (R148C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523155	NM_138778.5(DPH7):c.1024T>C (p.Trp342Arg)	DPH7 (W342R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515503	NM_138778.5(DPH7):c.1007A>G (p.Tyr336Cys)	DPH7 (Y160C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402632	NM_138778.5(DPH7):c.980C>T (p.Ser327Phe)	DPH7 (S129F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 161804	NM_138778.5(DPH7):c.932A>G (p.Asn311Ser)	DPH7 (N311S +4 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2290624	NM_138778.5(DPH7):c.844C>G (p.Gln282Glu)	DPH7 (Q106E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085501	NM_138778.5(DPH7):c.809G>A (p.Arg270Gln)	DPH7 (R136Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468642	NM_138778.5(DPH7):c.779A>G (p.Tyr260Cys)	DPH7 (Y238C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215841	NM_138778.5(DPH7):c.758A>G (p.His253Arg)	DPH7 (H253R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279019	NM_138778.5(DPH7):c.647A>G (p.Asp216Gly)	DPH7 (D82G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302737	NM_138778.5(DPH7):c.646G>A (p.Asp216Asn)	DPH7 (D216N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520050	NM_138778.5(DPH7):c.643G>T (p.Gly215Cys)	DPH7 (G215C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487800	NM_138778.5(DPH7):c.592G>A (p.Ala198Thr)	DPH7 (A22T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457912	NM_138778.5(DPH7):c.578C>T (p.Ala193Val)	DPH7 (A17V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085499	NM_138778.5(DPH7):c.512G>C (p.Gly171Ala)	DPH7 (G37A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263668	NM_138778.5(DPH7):c.452C>T (p.Thr151Ile)	DPH7 (T151I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2205493	NM_138778.5(DPH7):c.404G>T (p.Ser135Ile)	DPH7 (S135I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2604815	NM_138778.5(DPH7):c.245A>C (p.Glu82Ala)	DPH7 (E82A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085497	NM_138778.5(DPH7):c.231T>G (p.Ile77Met)	DPH7 (I77M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085496	NM_138778.5(DPH7):c.229A>G (p.Ile77Val)	DPH7 (I77V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2557617	NM_138778.5(DPH7):c.211T>C (p.Phe71Leu)	DPH7 (F71L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2209686	NM_138778.5(DPH7):c.167T>A (p.Val56Asp)	DPH7 (V56D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085495	NM_138778.5(DPH7):c.150C>A (p.Asn50Lys)	DPH7, LOC130003126 (N50K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085498	NM_138778.5(DPH7):c.32A>G (p.Asp11Gly)	DPH7, LOC130003126 (D11G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +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 2671589	Single allele	ARRDC1, CACNA1B +6 more	Deletion	not provided	GPathogenic
Select item 2576638	GRCh37/hg19 9q34.3(chr9:140351824-140772481)x3	ARRDC1, CACNA1B +7 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576637	GRCh37/hg19 9q34.3(chr9:140372234-140905328)x3	ARRDC1, CACNA1B +6 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576636	GRCh37/hg19 9q34.3(chr9:140452620-140776505)x3	CACNA1B, ARRDC1 +4 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576635	GRCh37/hg19 9q34.3(chr9:140277524-140762652)x3	DPH7, NSMF +9 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576634	GRCh37/hg19 9q34.3(chr9:140327663-140756825)x3	ARRDC1, DPH7 +8 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576633	GRCh37/hg19 9q34.3(chr9:140233379-140756825)x3	ZMYND19, ARRDC1 +9 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576632	GRCh37/hg19 9q34.3(chr9:140014769-140930811)x3	ANAPC2, ARRDC1 +28 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
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	ENTPD8, INPP5E +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 2425750	NC_000009.11:g.(?_140040158)_(141016451_?)del	NSMF, PNPLA7 +28 more	Deletion	Kleefstra syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 2423367	NC_000009.11:g.(?_139089171)_(141016451_?)del	EGFL7, PAXX +73 more	Deletion	Rafiq syndrome	GPathogenic
Select item 1527569	GRCh37/hg19 9q34.3(chr9:140230197-140893129)	ARRDC1, CACNA1B +10 more	Copy number gain	not specified	GUncertain significance
Select item 1527564	GRCh37/hg19 9q34.3(chr9:138740078-141020389)	ENTR1, EXD3 +77 more	Copy number loss	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1341106	GRCh37/hg19 9q34.3(chr9:140357902-140602791)x3	ARRDC1, DPH7 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1047897	GRCh37/hg19 9q34.3(chr9:139284464-141018984)	CCDC183, LRRC26 +68 more	Copy number loss	Cryptorchidism +1 more	GPathogenic
Select item 997822	Single allele	NDOR1, DPP7 +45 more	Deletion	Epilepsy +1 more	GPathogenic
Select item 986753	NC_000009.11:g.(?_139018777)_(141018984_?)del	LCN6, LCN8 +73 more	Deletion	Kleefstra syndrome 1	GPathogenic
Select item 980357	GRCh37/hg19 9q34.3(chr9:140458395-140638045)x1	EHMT1, ZMYND19 +2 more	Copy number loss	not provided	GPathogenic
Select item 831360	NC_000009.11:g.(?_138645763)_(140729425_?)del	LCNL1, LHX3 +77 more	Deletion	Developmental and epileptic encephalopathy, 14 +2 more	GConflicting classifications of pathogenicity
Select item 830975	NC_000009.12:g.(?_137139467)_(137834973_?)del	ANAPC2, ARRDC1 +27 more	Deletion	Kleefstra syndrome 1	GPathogenic
Select item 815304	GRCh37/hg19 9q34.3(chr9:140401671-141020389)x1	ARRDC1, CACNA1B +6 more	Copy number loss	not provided	GPathogenic
Select item 813716	GRCh37/hg19 9q34.3(chr9:138225001-141015001)	TMEM250, PPP1R26 +88 more	Copy number loss	Microcephaly	GPathogenic
Select item 810490	GRCh37/hg19 9q34.3(chr9:140391637-140964215)x3	ARRDC1, CACNA1B +6 more	Copy number gain	not provided	GUncertain significance

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