ClinVar for Gene (Select 10078) - ClinVar

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Links from Gene

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329707	NM_005706.4(TSSC4):c.274C>T (p.Arg92Cys)	TSSC4 (R28C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244544	NC_000011.9:g.(?_2233574)_(2499178_?)dup	ASCL2, C11orf21 +5 more	Duplication	Long QT syndrome	GUncertain significance
Select item 3244518	NC_000011.9:g.(?_216698)_(2906719_?)dup	ANO9, AP2A2 +77 more	Duplication	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3183955	NM_005706.4(TSSC4):c.947G>A (p.Arg316Gln)	TSSC4 (R316Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183954	NM_005706.4(TSSC4):c.929G>A (p.Arg310Gln)	TSSC4 (R310Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183953	NM_005706.4(TSSC4):c.898G>C (p.Glu300Gln)	TSSC4 (E300Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183952	NM_005706.4(TSSC4):c.812G>C (p.Trp271Ser)	TSSC4 (W271S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183951	NM_005706.4(TSSC4):c.790G>A (p.Gly264Arg)	TSSC4 (G200R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183950	NM_005706.4(TSSC4):c.68C>T (p.Thr23Met)	TSSC4 (T23M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183948	NM_005706.4(TSSC4):c.569G>T (p.Ser190Ile)	TSSC4 (S126I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183947	NM_005706.4(TSSC4):c.535C>G (p.Gln179Glu)	TSSC4 (Q179E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183946	NM_005706.4(TSSC4):c.267C>G (p.Phe89Leu)	TSSC4 (F25L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183944	NM_005706.4(TSSC4):c.190G>A (p.Glu64Lys)	TSSC4 (E64K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684632	GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	CARS1, CD151 +89 more	Copy number gain	not provided	GPathogenic
Select item 2569780	NM_005706.4(TSSC4):c.596C>T (p.Ser199Phe)	TSSC4 (S135F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543698	NM_005706.4(TSSC4):c.946C>T (p.Arg316Trp)	TSSC4 (R316W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531060	NM_005706.4(TSSC4):c.517G>C (p.Val173Leu)	TSSC4 (V109L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528984	NM_005706.4(TSSC4):c.115A>G (p.Ser39Gly)	TSSC4 (S39G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524957	NM_005706.4(TSSC4):c.481C>T (p.Arg161Cys)	TSSC4 (R161C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523250	NM_005706.4(TSSC4):c.194C>T (p.Pro65Leu)	TSSC4 (P65L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514219	NM_005706.4(TSSC4):c.514G>A (p.Glu172Lys)	TSSC4 (E108K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509013	NM_005706.4(TSSC4):c.868A>G (p.Ser290Gly)	TSSC4 (S226G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2471543	NM_005706.4(TSSC4):c.659G>A (p.Arg220Gln)	TSSC4 (R156Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427669	NC_000011.9:g.(?_1278740)_(2906719_?)dup	ASCL2, BRSK2 +32 more	Duplication	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 2425075	NC_000011.9:g.(?_721044)_(3988932_?)dup	AP2A2, ART1 +65 more	Duplication	not provided	GUncertain significance
Select item 2401968	NM_005706.4(TSSC4):c.724G>A (p.Gly242Ser)	TSSC4 (G242S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396817	NM_005706.4(TSSC4):c.613C>T (p.Pro205Ser)	TSSC4 (P205S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394439	NM_005706.4(TSSC4):c.946C>G (p.Arg316Gly)	TSSC4 (R252G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371512	NM_005706.4(TSSC4):c.56C>T (p.Thr19Met)	TSSC4 (T19M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352657	NM_005706.4(TSSC4):c.317G>A (p.Arg106Gln)	TSSC4 (R106Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2345644	NM_005706.4(TSSC4):c.592G>A (p.Val198Met)	TSSC4 (V198M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275404	NM_005706.4(TSSC4):c.135A>C (p.Glu45Asp)	TSSC4 (E45D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260971	NM_005706.4(TSSC4):c.392G>A (p.Arg131Gln)	TSSC4 (R131Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2252209	NM_005706.4(TSSC4):c.914A>G (p.His305Arg)	TSSC4 (H305R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248664	NM_005706.4(TSSC4):c.350G>A (p.Ser117Asn)	TSSC4 (S53N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220900	NM_005706.4(TSSC4):c.452C>T (p.Pro151Leu)	TSSC4 (P151L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209643	NM_005706.4(TSSC4):c.916G>A (p.Gly306Ser)	TSSC4 (G242S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208232	NM_005706.4(TSSC4):c.79G>A (p.Asp27Asn)	TSSC4 (D27N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1706496	GRCh37/hg19 11p15.5-15.4(chr11:2314240-2915570)x3	C11orf21, CD81 +8 more	Copy number gain	See cases	GUncertain significance
Select item 1339886	GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	IFITM5, SIGIRR +137 more	Copy number gain	not provided	Gnot provided
Select item 1017523	NC_000011.9:g.(?_298501)_(4113028_?)dup	ANO9, AP2A2 +89 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 983191	GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3	ANO9, AP2A2 +109 more	Copy number gain	See cases	GPathogenic
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 832038	NC_000011.9:g.(?_532616)_(2906985_?)dup	C11orf21, AP2A2 +63 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 815396	GRCh37/hg19 11p15.5(chr11:2209396-2520511)x3	ASCL2, C11orf21 +5 more	Copy number gain	not provided	GUncertain significance
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 776558	NM_005706.4(TSSC4):c.864C>T (p.Val288=)	TSSC4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768414	NM_005706.4(TSSC4):c.371G>A (p.Arg124Gln)	TSSC4 (R124Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	OR51G2, OR51L1 +132 more	Copy number gain	See cases	GPathogenic
Select item 155520	GRCh38/hg38 11p15.5(chr11:2106943-2565669)x3	ASCL2, C11orf21 +32 more	Copy number gain	See cases	GUncertain significance
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 154397	GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1	ASCL2, BRSK2 +129 more	Copy number loss	See cases	GPathogenic
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 148331	GRCh38/hg38 11p15.5(chr11:2149352-2467542)x3	ASCL2, C11orf21 +28 more	Copy number gain	See cases	GUncertain significance
Select item 147964	GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)x1	ASCL2, C11orf21 +83 more	Copy number loss	See cases	GUncertain significance
Select item 147689	GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3	C11orf21, CARS1 +115 more	Copy number gain	See cases	GPathogenic
Select item 146876	GRCh38/hg38 11p15.5-15.4(chr11:1975511-2888695)x3	ASCL2, C11orf21 +52 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	ANO9, AP2A2 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	LOC130005164, LOC130005165 +332 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic

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Links from Gene

Items: 73