ClinVar for Gene (Select 84960) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264136	NM_001039374.5(CCDC183):c.1237C>T (p.Leu413Phe)	CCDC183, CCDC183-AS1 (L413F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264135	NM_001039374.5(CCDC183):c.1306G>T (p.Asp436Tyr)	CCDC183, CCDC183-AS1 (D436Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264134	NM_001039374.5(CCDC183):c.1042G>A (p.Ala348Thr)	CCDC183, CCDC183-AS1 (A348T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264133	NM_001039374.5(CCDC183):c.822C>G (p.Asn274Lys)	CCDC183, CCDC183-AS1 (N274K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3264132	NM_001039374.5(CCDC183):c.431T>C (p.Leu144Pro)	CCDC183 (L144P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264131	NM_001039374.5(CCDC183):c.1295C>T (p.Ser432Phe)	CCDC183, CCDC183-AS1 (S432F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3238725	GRCh38/hg38 9q34.3(chr9:135338745-138124196)	ABCA2, AGPAT2 +344 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238709	GRCh38/hg38 9q34.3(chr9:136684941-138124673)	ABCA2, AGPAT2 +227 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238708	GRCh38/hg38 9q34.3(chr9:135791488-138262981)	ABCA2, AGPAT2 +325 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238707	GRCh38/hg38 9q34.3(chr9:135203306-138100471)	LOC130003123, LOC130003124 +345 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238701	GRCh38/hg38 9q34.2-34.3(chr9:134288333-138155727)	ABCA2, AGPAT2 +388 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238700	GRCh38/hg38 9q34.3(chr9:136032451-138125938)	LOC130003044, LOC130003045 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238697	GRCh38/hg38 9q34.3(chr9:135008333-138199729)	ABCA2, AGPAT2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238694	GRCh38/hg38 9q34.3(chr9:135204722-138394717)	EHMT1, ENTPD2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238689	GRCh38/hg38 9q34.3(chr9:134642187-138121999)	ABCA2, AGPAT2 +367 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238683	GRCh38/hg38 9q34.3(chr9:136806104-138394717)	LOC130003043, LOC130003044 +199 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238669	GRCh38/hg38 9q34.3(chr9:135954288-138125938)	LOC130003073, LOC130003074 +310 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238659	GRCh38/hg38 9q34.3(chr9:135182209-138129711)	UBAC1, ZMYND19 +346 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238658	GRCh38/hg38 9q34.3(chr9:135969078-138104469)	LOC126860801, LOC129390118 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3138987	NM_001039374.5(CCDC183):c.995T>C (p.Leu332Pro)	CCDC183, CCDC183-AS1 (L332P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3138986	NM_001039374.5(CCDC183):c.932G>A (p.Arg311Gln)	CCDC183, CCDC183-AS1 (R311Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3138985	NM_001039374.5(CCDC183):c.917T>C (p.Val306Ala)	CCDC183, CCDC183-AS1 (V306A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3138984	NM_001039374.5(CCDC183):c.764C>G (p.Thr255Arg)	CCDC183, CCDC183-AS1 (T255R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3138982	NM_001039374.5(CCDC183):c.652A>G (p.Thr218Ala)	CCDC183 (T218A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138981	NM_001039374.5(CCDC183):c.614C>T (p.Ser205Leu)	CCDC183 (S205L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138980	NM_001039374.5(CCDC183):c.587T>C (p.Leu196Pro)	CCDC183 (L196P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138979	NM_001039374.5(CCDC183):c.502A>G (p.Ile168Val)	CCDC183, LOC130003039 (I168V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138978	NM_001039374.5(CCDC183):c.394C>G (p.Arg132Gly)	CCDC183 (R132G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138977	NM_001039374.5(CCDC183):c.278G>A (p.Arg93Gln)	CCDC183 (R93Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138976	NM_001039374.5(CCDC183):c.1510G>A (p.Asp504Asn)	CCDC183, CCDC183-AS1 (D504N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138975	NM_001039374.5(CCDC183):c.1363G>A (p.Val455Met)	CCDC183, CCDC183-AS1 (V455M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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 2691849	NM_001039374.5(CCDC183):c.886C>T (p.Gln296Ter)	CCDC183, CCDC183-AS1 (Q296*)	Single nucleotide variant (non-coding transcript variant +1 more)	See cases	GLikely pathogenic
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 2588638	NM_001039374.5(CCDC183):c.895G>A (p.Val299Met)	CCDC183, CCDC183-AS1 (V299M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
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 2556334	NM_001039374.5(CCDC183):c.1570G>C (p.Gly524Arg)	CCDC183, CCDC183-AS1 (G524R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550954	NM_001039374.5(CCDC183):c.1448C>T (p.Thr483Ile)	CCDC183, CCDC183-AS1 (T483I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2548317	NM_001039374.5(CCDC183):c.1088G>T (p.Arg363Leu)	CCDC183, CCDC183-AS1 (R363L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539317	NM_001039374.5(CCDC183):c.1256G>A (p.Gly419Asp)	CCDC183, CCDC183-AS1 (G419D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537165	NM_001039374.5(CCDC183):c.1468C>T (p.Arg490Trp)	CCDC183, CCDC183-AS1 (R490W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2531952	NM_001039374.5(CCDC183):c.669G>C (p.Arg223Ser)	CCDC183, CCDC183-AS1 (R223S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2513553	NM_001039374.5(CCDC183):c.764C>T (p.Thr255Met)	CCDC183, CCDC183-AS1 (T255M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2510711	NM_001039374.5(CCDC183):c.710G>A (p.Arg237Gln)	CCDC183, CCDC183-AS1 (R237Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2466886	NM_001039374.5(CCDC183):c.1231G>A (p.Asp411Asn)	CCDC183, CCDC183-AS1 (D411N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463450	NM_001039374.5(CCDC183):c.742A>C (p.Lys248Gln)	CCDC183, CCDC183-AS1 (K248Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2459063	NM_001039374.5(CCDC183):c.80G>C (p.Arg27Pro)	CCDC183 (R27P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	STKLD1, STPG3 +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426327	NC_000009.11:g.(?_138392557)_(141016451_?)del	NOXA1, NPDC1 +85 more	Deletion	Adams-Oliver syndrome 5 +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	ABCA2, AGPAT2 +73 more	Deletion	Rafiq syndrome	GPathogenic
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	ABCA2, ABO +100 more	Duplication	Developmental and epileptic encephalopathy, 14 +4 more	GUncertain significance
Select item 2394020	NM_001039374.5(CCDC183):c.604T>C (p.Ser202Pro)	CCDC183 (S202P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392398	NM_001039374.5(CCDC183):c.685G>A (p.Glu229Lys)	CCDC183, CCDC183-AS1 (E229K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2392126	NM_001039374.5(CCDC183):c.923G>A (p.Ser308Asn)	CCDC183, CCDC183-AS1 (S308N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2392125	NM_001039374.5(CCDC183):c.114G>A (p.Met38Ile)	CCDC183 (M38I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392023	NM_001039374.5(CCDC183):c.1099A>T (p.Ser367Cys)	CCDC183, CCDC183-AS1 (S367C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360202	NM_001039374.5(CCDC183):c.910G>A (p.Glu304Lys)	CCDC183, CCDC183-AS1 (E304K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2358451	NM_001039374.5(CCDC183):c.778G>A (p.Glu260Lys)	CCDC183, CCDC183-AS1 (E260K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2358323	NM_001039374.5(CCDC183):c.910G>C (p.Glu304Gln)	CCDC183, CCDC183-AS1 (E304Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2346393	NM_001039374.5(CCDC183):c.818C>T (p.Ser273Leu)	CCDC183, CCDC183-AS1 (S273L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2317532	NM_001039374.5(CCDC183):c.170A>G (p.Gln57Arg)	CCDC183 (Q57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300615	NM_001039374.5(CCDC183):c.1247G>A (p.Arg416Gln)	CCDC183, CCDC183-AS1 (R416Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296403	NM_001039374.5(CCDC183):c.407A>G (p.Asp136Gly)	CCDC183 (D136G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294927	NM_001039374.5(CCDC183):c.1261A>G (p.Asn421Asp)	CCDC183, CCDC183-AS1 (N421D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291936	NM_001039374.5(CCDC183):c.1180A>G (p.Ser394Gly)	CCDC183, CCDC183-AS1 (S394G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267753	NM_001039374.5(CCDC183):c.804C>G (p.Asp268Glu)	CCDC183, CCDC183-AS1 (D268E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2266273	NM_001039374.5(CCDC183):c.519G>T (p.Leu173Phe)	CCDC183, LOC130003039 (L173F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262329	NM_001039374.5(CCDC183):c.637G>A (p.Asp213Asn)	CCDC183 (D213N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259054	NM_001039374.5(CCDC183):c.983C>T (p.Thr328Met)	CCDC183, CCDC183-AS1 (T328M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2253679	NM_001039374.5(CCDC183):c.758T>C (p.Ile253Thr)	CCDC183, CCDC183-AS1 (I253T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2241796	NM_001039374.5(CCDC183):c.1179C>A (p.His393Gln)	CCDC183, CCDC183-AS1 (H393Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2219039	NM_001039374.5(CCDC183):c.383T>C (p.Leu128Pro)	CCDC183 (L128P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216976	NM_001039374.5(CCDC183):c.1271C>A (p.Ala424Glu)	CCDC183, CCDC183-AS1 (A424E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LOC124375251, LOC126860788 +265 more	Copy number loss	See cases	GPathogenic
Select item 1527567	GRCh37/hg19 9q34.3(chr9:139563039-140310033)	ABCA2, AGPAT2 +50 more	Copy number loss	not specified	GUncertain significance
Select item 1527564	GRCh37/hg19 9q34.3(chr9:138740078-141020389)	ABCA2, AGPAT2 +77 more	Copy number loss	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1184863	NM_001039374.5(CCDC183):c.1025G>A (p.Trp342Ter)	CCDC183-AS1, CCDC183 (W342*)	Single nucleotide variant (nonsense)	Essential tremor	GLikely pathogenic
Select item 1047897	GRCh37/hg19 9q34.3(chr9:139284464-141018984)	RNF208, RNF224 +68 more	Copy number loss	Coarctation of aorta +1 more	GPathogenic
Select item 1008189	NC_000009.11:g.(?_138594085)_(140062314_?)dup	ABCA2, AGPAT2 +49 more	Duplication	Developmental and epileptic encephalopathy, 14 +2 more	GUncertain significance
Select item 986753	NC_000009.11:g.(?_139018777)_(141018984_?)del	LINC02908, LOC651337 +73 more	Deletion	Kleefstra syndrome 1	GPathogenic
Select item 980359	GRCh37/hg19 9q34.3(chr9:139420166-139787562)x1	SNHG7, AJM1 +16 more	Copy number loss	not provided	GUncertain significance
Select item 831360	NC_000009.11:g.(?_138645763)_(140729425_?)del	LCN12, LCN15 +77 more	Deletion	Kleefstra syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 813716	GRCh37/hg19 9q34.3(chr9:138225001-141015001)	ABCA2, AGPAT2 +88 more	Copy number loss	Microcephaly	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 563671	GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3	ABCA2, ABO +130 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 523169	GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1	DPH7, OLFM1 +128 more	Copy number loss	mTOR Inhibitor response	Gdrug response
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 443824	GRCh37/hg19 9q34.3(chr9:138275621-141020389)x3	ABCA2, AGPAT2 +87 more	Copy number gain	See cases	GLikely pathogenic

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