HBE1[gene] - ClinVar

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Items: 33

	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 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC111718490, LOC112067719 +388 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 3043301	NM_005330.4(HBE1):c.414C>T (p.Val138=)	HBE1	Single nucleotide variant (synonymous variant)	HBE1-related disorder	GLikely benign
Select item 3104401	NM_005330.4(HBE1):c.403G>C (p.Val135Leu)	HBE1 (V135L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056068	NM_005330.4(HBE1):c.226A>G (p.Ile76Val)	HBE1 (I76V)	Single nucleotide variant (missense variant)	HBE1-related disorder	GLikely benign
Select item 2326883	NM_005330.4(HBE1):c.208A>T (p.Thr70Ser)	HBE1 (T70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037396	NM_005330.4(HBE1):c.177C>T (p.Pro59=)	HBE1	Single nucleotide variant (synonymous variant)	HBE1-related disorder	GLikely benign
Select item 2405147	NM_005330.4(HBE1):c.140G>T (p.Gly47Val)	HBE1 (G47V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333867	NM_005330.4(HBE1):c.74G>C (p.Gly25Ala)	HBE1 (G25A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040733	NM_005330.4(HBE1):c.33C>T (p.Ala11=)	HBE1	Single nucleotide variant (synonymous variant)	HBE1-related disorder	GBenign
Select item 2546793	NM_005330.4(HBE1):c.28G>A (p.Ala10Thr)	HBE1 (A10T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403576	NM_005330.4(HBE1):c.7C>T (p.His3Tyr)	HBE1 (H3Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240284	NM_005330.4(HBE1):c.4G>C (p.Val2Leu)	HBE1 (V2L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2573338	GRCh37/hg19 11p15.4(chr11:5094756-5785959)x3	HBB, HBE1 +25 more	Copy number gain	See cases	GLikely benign
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 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	OR10A6, RRM1 +205 more	Copy number gain	not provided	GPathogenic
Select item 1807597	GRCh37/hg19 11p15.4(chr11:5279153-5619949)x3	HBE1, OR51B2 +13 more	Copy number gain	not provided	GUncertain significance
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 1339886	GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	ANO9, AP2A2 +137 more	Copy number gain	not provided	Gnot provided
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 815400	GRCh37/hg19 11p15.4(chr11:5112523-5336304)x1	HBD, OR52A1 +7 more	Copy number loss	not provided	GPathogenic
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 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	B4GALNT4, BET1L +132 more	Copy number gain	See cases	GPathogenic

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Items: 33