40022[HGNC] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	LOC130005114, LOC130005115 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC111718490, LOC112067719 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	LOC130005104, LOC130005105 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	STIM1-AS1, SYT8 +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	CHID1, CHRNA10 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	BGLT3, A-GAMMA3'E +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	ASCL2, C11orf21 +115 more	Copy number gain	See cases	GPathogenic
Select item 2225033	NM_001170820.4(IFITM10):c.679G>A (p.Asp227Asn)	IFITM10 (D227N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321248	NM_001170820.4(IFITM10):c.649G>A (p.Val217Ile)	IFITM10 (V217I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108209	NM_001170820.4(IFITM10):c.635C>G (p.Ser212Cys)	IFITM10 (S212C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488311	NM_001170820.4(IFITM10):c.616A>G (p.Ser206Gly)	IFITM10 (S206G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622399	NM_001170820.4(IFITM10):c.565C>G (p.Leu189Val)	IFITM10 (L189V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233950	NM_001170820.4(IFITM10):c.398C>T (p.Thr133Met)	IFITM10 (T133M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457446	NM_001170820.4(IFITM10):c.395A>C (p.Lys132Thr)	IFITM10 (K132T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339414	NM_001170820.4(IFITM10):c.393G>T (p.Lys131Asn)	IFITM10 (K131N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605375	NM_001170820.4(IFITM10):c.381C>G (p.His127Gln)	IFITM10 (H127Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108208	NM_001170820.4(IFITM10):c.365C>T (p.Pro122Leu)	IFITM10 (P122L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381129	NM_001170820.4(IFITM10):c.338C>T (p.Thr113Ile)	IFITM10 (T113I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108207	NM_001170820.4(IFITM10):c.316A>G (p.Met106Val)	IFITM10 (M106V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108206	NM_001170820.4(IFITM10):c.312C>G (p.Phe104Leu)	IFITM10 (F104L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108205	NM_001170820.4(IFITM10):c.253G>A (p.Ala85Thr)	IFITM10 (A85T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108204	NM_001170820.4(IFITM10):c.229G>A (p.Val77Met)	IFITM10 (V77M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641350	NM_001170820.4(IFITM10):c.207G>A (p.Ser69=)	IFITM10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2302312	NM_001170820.4(IFITM10):c.143G>A (p.Gly48Asp)	IFITM10 (G48D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108203	NM_001170820.4(IFITM10):c.140A>G (p.Asp47Gly)	IFITM10 (D47G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108202	NM_001170820.4(IFITM10):c.118G>A (p.Gly40Arg)	IFITM10 (G40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334980	NM_001170820.4(IFITM10):c.97G>A (p.Gly33Ser)	IFITM10 (G33S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409482	NM_001170820.4(IFITM10):c.43C>T (p.Arg15Trp)	IFITM10 (R15W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684632	GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	ANO9, AP2A2 +89 more	Copy number gain	not provided	GPathogenic
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	C11orf42, MRGPRG +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 1808628	GRCh37/hg19 11p15.5(chr11:461373-2157956)x4	AP2A2, BRSK2 +52 more	Copy number gain	not provided	GPathogenic
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	OR10A6, RRM1 +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ART1, CD81 +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	ANO9, AP2A2 +137 more	Copy number gain	not provided	Gnot provided
Select item 1017523	NC_000011.9:g.(?_298501)_(4113028_?)dup	PTDSS2, RASSF7 +89 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1004798	NC_000011.9:g.(?_612625)_(2193840_?)dup	BRSK2, AP2A2 +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	IFITM3, OR52D1 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 980415	GRCh37/hg19 11p15.5(chr11:1436158-2321134)x3	ASCL2, BRSK2 +22 more	Copy number gain	not provided	GPathogenic
Select item 832038	NC_000011.9:g.(?_532616)_(2906985_?)dup	INS-IGF2, IRF7 +63 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CCKBR, OR56A4 +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	RASSF10, RASSF7 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	OR2AG2, OR2D2 +222 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	OR2AG2, OR2D2 +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	B4GALNT4, BET1L +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: 61