19264[HGNC] - ClinVar

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Items: 83

	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 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	ANO9, AP2A2 +204 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 58855	GRCh38/hg38 11p15.5(chr11:758848-1998025)x1	AP2A2, BRSK2 +115 more	Copy number loss	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 147689	GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3	C11orf21, CARS1 +115 more	Copy number gain	See cases	GPathogenic
Select item 3173044	NM_001394072.1(SYT8):c.4G>T (p.Gly2Trp)	SYT8 (G16W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617138	NM_001394072.1(SYT8):c.23C>T (p.Pro8Leu)	SYT8 (P21L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374955	NM_001394072.1(SYT8):c.100C>T (p.Arg34Cys)	SYT8 (R34C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366387	NM_001394072.1(SYT8):c.101G>A (p.Arg34His)	SYT8 (R34H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173038	NM_001394072.1(SYT8):c.131C>T (p.Ala44Val)	SYT8 (A44V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524586	NM_001394072.1(SYT8):c.235C>T (p.Arg79Cys)	SYT8 (R93C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280407	NM_001394072.1(SYT8):c.250A>C (p.Thr84Pro)	SYT8 (T84P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173039	NM_001394072.1(SYT8):c.260T>G (p.Val87Gly)	SYT8 (V100G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513234	NM_001394072.1(SYT8):c.293C>T (p.Pro98Leu)	SYT8 (P111L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173040	NM_001394072.1(SYT8):c.312G>C (p.Trp104Cys)	SYT8 (W118C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275945	NM_001394072.1(SYT8):c.340G>A (p.Asp114Asn)	SYT8 (D128N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768413	NM_001394072.1(SYT8):c.343T>A (p.Phe115Ile)	SYT8 (F129I +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2525906	NM_001394072.1(SYT8):c.350G>A (p.Ser117Asn)	SYT8 (S132N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173041	NM_001394072.1(SYT8):c.374G>C (p.Arg125Thr)	SYT8 (R138T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173042	NM_001394072.1(SYT8):c.406G>A (p.Val136Met)	SYT8 (V136M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357506	NM_001394072.1(SYT8):c.436A>G (p.Thr146Ala)	SYT8 (T160A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294604	NM_001394072.1(SYT8):c.443C>T (p.Ala148Val)	SYT8 (A162V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218499	NM_001394072.1(SYT8):c.479C>T (p.Thr160Met)	SYT8 (T174M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324062	NM_001394072.1(SYT8):c.485G>A (p.Cys162Tyr)	SYT8 (C175Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173045	NM_001394072.1(SYT8):c.490G>A (p.Val164Met)	SYT8 (V177M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173046	NM_001394072.1(SYT8):c.527C>T (p.Ala176Val)	SYT8 (A189V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173047	NM_001394072.1(SYT8):c.581C>T (p.Ser194Leu)	SYT8 (S208L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245151	NM_001394072.1(SYT8):c.603G>T (p.Glu201Asp)	SYT8 (E201D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408785	NM_001394072.1(SYT8):c.668C>T (p.Pro223Leu)	SYT8 (P238L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615921	NM_001394072.1(SYT8):c.697G>A (p.Gly233Arg)	SYT8 (G233R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224336	NM_001394072.1(SYT8):c.751G>C (p.Val251Leu)	SYT8 (V266L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790634	NM_001394072.1(SYT8):c.775C>T (p.Arg259Cys)	SYT8 (R273C +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2539843	NM_001394072.1(SYT8):c.799G>A (p.Val267Met)	SYT8 (V280M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324064	NM_001394072.1(SYT8):c.886G>A (p.Glu296Lys)	SYT8 (E310K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570096	NM_001394072.1(SYT8):c.956G>A (p.Arg319His)	SYT8 (R319H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324063	NM_001394072.1(SYT8):c.965C>T (p.Pro322Leu)	SYT8 (P322L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268354	NM_001394072.1(SYT8):c.965C>A (p.Pro322Gln)	SYT8 (P322Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3173035	NM_001394072.1(SYT8):c.991G>A (p.Val331Met)	SYT8 (V345M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209185	NM_001394072.1(SYT8):c.1006C>T (p.Arg336Trp)	SYT8 (R336W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547196	NM_001394072.1(SYT8):c.1015G>T (p.Gly339Trp)	SYT8 (G352W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476583	NM_001394072.1(SYT8):c.1033T>A (p.Trp345Arg)	SYT8 (W345R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206688	NM_001394072.1(SYT8):c.1058G>A (p.Arg353Gln)	SYT8 (R367Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173036	NM_001394072.1(SYT8):c.1129C>T (p.Arg377Cys)	SYT8 (R392C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361252	NM_001394072.1(SYT8):c.1136G>A (p.Arg379His)	SYT8 (R392H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518476	NM_001394072.1(SYT8):c.1141C>T (p.Arg381Cys)	SYT8 (R381C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322070	NM_001394072.1(SYT8):c.1148C>T (p.Pro383Leu)	SYT8 (P383L +3 more)	Single nucleotide variant (missense variant)	not specified	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 2424318	NC_000011.9:g.(?_1774733)_(2019125_?)dup	CTSD, H19 +5 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1808628	GRCh37/hg19 11p15.5(chr11:461373-2157956)x4	GATD1, IRF7 +52 more	Copy number gain	not provided	GPathogenic
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 1703675	GRCh37/hg19 11p15.5(chr11:1621232-2228572)	CTSD, H19 +15 more	Copy number gain	Beckwith-Wiedemann syndrome	GPathogenic
Select item 1340828	GRCh37/hg19 11p15.5(chr11:1719815-2321109)x3	ASCL2, C11orf21 +13 more	Copy number gain	not provided	GLikely pathogenic
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 1004798	NC_000011.9:g.(?_612625)_(2193840_?)dup	AP2A2, BRSK2 +45 more	Duplication	Immunodeficiency 39 +1 more	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 980415	GRCh37/hg19 11p15.5(chr11:1436158-2321134)x3	TNNT3, ASCL2 +22 more	Copy number gain	not provided	GPathogenic
Select item 832038	NC_000011.9:g.(?_532616)_(2906985_?)dup	C11orf21, AP2A2 +63 more	Duplication	Neuronal ceroid lipofuscinosis	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 441567	GRCh37/hg19 11p15.5(chr11:1690968-2277648)x3	CTSD, H19 +12 more	Copy number gain	See cases	GUncertain significance
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 221367	chr11:1092954..1857751 complex variant	BRSK2, CTSD +14 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221343	Single allele	BRSK2, CHID1 +17 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 83