TSSC4[gene] - ClinVar

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

Search results

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 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 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	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 147689	GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3	C11orf21, CARS1 +115 more	Copy number gain	See cases	GPathogenic
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 146876	GRCh38/hg38 11p15.5-15.4(chr11:1975511-2888695)x3	ASCL2, C11orf21 +52 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 148331	GRCh38/hg38 11p15.5(chr11:2149352-2467542)x3	ASCL2, C11orf21 +28 more	Copy number gain	See cases	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 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 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 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 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 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 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 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 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 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 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 768414	NM_005706.4(TSSC4):c.371G>A (p.Arg124Gln)	TSSC4 (R124Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 776558	NM_005706.4(TSSC4):c.864C>T (p.Val288=)	TSSC4	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 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 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 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 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 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 2684632	GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	CARS1, CD151 +89 more	Copy number gain	not provided	GPathogenic
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 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 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 73