26616[HGNC] - ClinVar

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Items: 72

	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 3098806	NM_182612.4(GATD1):c.620C>T (p.Pro207Leu)	GATD1 (P121L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2623162	NM_182612.4(GATD1):c.619C>T (p.Pro207Ser)	GATD1 (P121S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3098805	NM_182612.4(GATD1):c.497C>T (p.Pro166Leu)	GATD1 (R180C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521165	NM_182612.4(GATD1):c.490C>T (p.Arg164Cys)	GATD1 (R114C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2463582	NM_182612.4(GATD1):c.487G>A (p.Ala163Thr)	GATD1 (A77T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3098804	NM_182612.4(GATD1):c.478C>G (p.Pro160Ala)	GATD1 (P110A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2597741	NM_182612.4(GATD1):c.476C>T (p.Ala159Val)	GATD1 (A123V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517004	NM_182612.4(GATD1):c.379G>A (p.Gly127Ser)	GATD1 (G91S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098802	NM_182612.4(GATD1):c.326G>A (p.Arg109His)	GATD1 (R109H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3098801	NM_182612.4(GATD1):c.325C>T (p.Arg109Cys)	GATD1 (R109C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3098799	NM_182612.4(GATD1):c.307A>G (p.Ser103Gly)	GATD1 (S103G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3098797	NM_182612.4(GATD1):c.283C>T (p.Pro95Ser)	GATD1 (P95S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3098796	NM_182612.4(GATD1):c.274C>T (p.Pro92Ser)	GATD1 (P42S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3098795	NM_182612.4(GATD1):c.268C>G (p.Leu90Val)	GATD1 (L90V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3098794	NM_182612.4(GATD1):c.260A>G (p.His87Arg)	GATD1 (H37R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2461033	NM_182612.4(GATD1):c.245A>T (p.Asp82Val)	GATD1 (D82V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098793	NM_182612.4(GATD1):c.241A>T (p.Ile81Phe)	GATD1 (I81F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098792	NM_182612.4(GATD1):c.202C>T (p.Arg68Cys)	GATD1 (R68C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098791	NM_182612.4(GATD1):c.179A>G (p.Asn60Ser)	GATD1 (N10S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589875	NM_182612.4(GATD1):c.164A>G (p.Asp55Gly)	GATD1 (D55G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098790	NM_182612.4(GATD1):c.107G>A (p.Ser36Asn)	GATD1 (S36N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3098808	NM_182612.4(GATD1):c.98C>T (p.Thr33Met)	GATD1 (T33M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3280880	NM_182612.4(GATD1):c.97A>G (p.Thr33Ala)	GATD1 (T33A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3098807	NM_182612.4(GATD1):c.71C>G (p.Ser24Trp)	GATD1 (S24W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2549721	NM_182612.4(GATD1):c.52G>A (p.Gly18Ser)	GATD1, LOC130005085 (G18S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3098803	NM_182612.4(GATD1):c.40C>T (p.Leu14Phe)	GATD1, LOC130005085 (L14F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3098800	NM_182612.4(GATD1):c.31G>A (p.Ala11Thr)	GATD1, LOC130005085 (A11T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3098798	NM_182612.4(GATD1):c.28C>T (p.Pro10Ser)	GATD1, LOC130005085 (P10S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3280879	NM_182612.4(GATD1):c.13C>T (p.Arg5Trp)	GATD1, LOC130005085 (R5W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3244780	NC_000011.9:g.(?_691481)_(795006_?)dup	CEND1, DEAF1 +5 more	Duplication	not provided	GUncertain significance
Select item 3244591	NC_000011.9:g.(?_532636)_(824862_?)dup	EPS8L2, CDHR5 +20 more	Duplication	Costello 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 3063226	GRCh37/hg19 11p15.5(chr11:743761-894572)x1	CD151, CEND1 +10 more	Copy number loss	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 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2426870	NC_000011.9:g.(?_644550)_(795006_?)dup	CEND1, DEAF1 +5 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2426546	NC_000011.9:g.(?_532636)_(819925_?)dup	CDHR5, CEND1 +20 more	Duplication	Neutral lipid storage myopathy	GUncertain significance
Select item 2425075	NC_000011.9:g.(?_721044)_(3988932_?)dup	AP2A2, ART1 +65 more	Duplication	not provided	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 1444884	NC_000011.9:g.(?_678674)_(838192_?)dup	CD151, CEND1 +10 more	Duplication	not provided	GUncertain significance
Select item 1341109	GRCh37/hg19 11p15.5(chr11:648556-1021236)x3	AP2A2, CD151 +15 more	Copy number gain	not provided	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 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 980416	GRCh37/hg19 11p15.5(chr11:230615-1150353)x3	ANO9, AP2A2 +43 more	Copy number gain	not provided	GUncertain significance
Select item 832038	NC_000011.9:g.(?_532616)_(2906985_?)dup	C11orf21, AP2A2 +63 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 830507	NC_000011.10:g.(?_532616)_(795026_?)dup	CDHR5, CEND1 +17 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	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 685865	GRCh37/hg19 11p15.5(chr11:733608-986824)x3	AP2A2, CD151 +11 more	Copy number gain	not provided	GUncertain significance
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 253804	GRCh37/hg19 11p15.5(chr11:680365-827724)x3	TMEM80, CRACR2B +9 more	Copy number gain	See cases	GUncertain significance

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Items: 72