HABP2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	ABCC2, ABLIM1 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	LOC126861081, LOC126861082 +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	ABLIM1, ABRAXAS2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	ACSL5, ADD3 +318 more	Copy number loss	See cases	GPathogenic
Select item 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	LOC130004776, LOC130004777 +308 more	Copy number loss	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC130004745, LOC130004746 +802 more	Copy number gain	See cases	GPathogenic
Select item 151000	GRCh38/hg38 10q25.2-25.3(chr10:110804735-114884010)x1	ABLIM1, ACSL5 +134 more	Copy number loss	See cases	GLikely pathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	VAX1, VENTX +679 more	Copy number gain	See cases	GPathogenic
Select item 146710	GRCh38/hg38 10q25.2-25.3(chr10:112074094-115537174)x1	ABLIM1, ACSL5 +109 more	Copy number loss	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	DCLRE1A, ABLIM1 +248 more	Copy number gain	See cases	GLikely pathogenic
Select item 1269429	NM_001177660.3(HABP2):c.-10+1886G>A	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 298890	NM_004132.4(HABP2):c.-70delT	HABP2	Deletion (intron variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298891	NM_004132.4(HABP2):c.-71T>C	HABP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 298892	NM_004132.4(HABP2):c.-70T>C	HABP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 298893	NM_004132.5(HABP2):c.-65C>G	HABP2	Single nucleotide variant (intron variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 879380	NM_004132.5(HABP2):c.-58G>C	HABP2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 298894	NM_004132.5(HABP2):c.-3A>G	HABP2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 2326331	NM_004132.5(HABP2):c.15G>A (p.Met5Ile)	HABP2 (M5I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 879381	NM_004132.5(HABP2):c.46C>G (p.Leu16Val)	HABP2 (L16V)	Single nucleotide variant (missense variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GLikely benign
Select item 2479096	NM_004132.5(HABP2):c.57G>T (p.Lys19Asn)	HABP2 (K19N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210653	NM_004132.5(HABP2):c.59C>T (p.Thr20Ile)	HABP2 (T20I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 298895	NM_004132.5(HABP2):c.63C>T (p.Ala21=)	HABP2	Single nucleotide variant (synonymous variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 1221793	NM_004132.5(HABP2):c.70-309C>A	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297834	NM_004132.5(HABP2):c.70-303G>A	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270510	NM_004132.5(HABP2):c.70-298C>G	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253107	NM_004132.5(HABP2):c.70-208A>G	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282867	NM_004132.5(HABP2):c.70-200C>G	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275964	NM_004132.5(HABP2):c.70-177G>A	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280179	NM_004132.5(HABP2):c.70-164A>G	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287963	NM_004132.5(HABP2):c.70-55A>G	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707234	NM_004132.5(HABP2):c.70-43G>C	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2304736	NM_004132.5(HABP2):c.80T>G (p.Met27Arg)	HABP2 (M1R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1049357	NM_004132.5(HABP2):c.83C>G (p.Ser28Cys)	HABP2 (S28C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2394735	NM_004132.5(HABP2):c.85T>G (p.Leu29Val)	HABP2 (L3V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 298896	NM_004132.5(HABP2):c.95G>T (p.Ser32Ile)	HABP2 (S32I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1273370	NM_004132.5(HABP2):c.106+115A>G	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243125	NM_004132.5(HABP2):c.106+201T>C	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268805	NM_004132.5(HABP2):c.106+203A>C	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227306	NM_004132.5(HABP2):c.106+205G>A	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258768	NM_004132.5(HABP2):c.106+243G>A	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287063	NM_004132.5(HABP2):c.106+246C>G	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241398	NM_004132.5(HABP2):c.107-297T>A	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317698	NM_004132.5(HABP2):c.107-273C>T	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316645	NM_004132.5(HABP2):c.107-220A>G	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 879766	NM_004132.5(HABP2):c.148A>T (p.Asn50Tyr)	HABP2 (N24Y +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298897	NM_004132.5(HABP2):c.158A>G (p.Glu53Gly)	HABP2 (E53G +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 716806	NM_004132.5(HABP2):c.177T>A (p.Leu59=)	HABP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 298898	NM_004132.5(HABP2):c.183C>T (p.His61=)	HABP2	Single nucleotide variant (synonymous variant)	Factor VII Marburg I Variant Thrombophilia +2 more	GBenign
Select item 298899	NM_004132.5(HABP2):c.207C>T (p.Tyr69=)	HABP2	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1316644	NM_004132.5(HABP2):c.223+76G>T	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316834	NM_004132.5(HABP2):c.223+129A>G	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282509	NM_004132.5(HABP2):c.223+148dup	HABP2	Duplication (intron variant)	not provided	GBenign
Select item 1237382	NM_004132.5(HABP2):c.223+142T>C	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318009	NM_004132.5(HABP2):c.223+214G>A	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318062	NM_004132.5(HABP2):c.223+286G>T	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269666	NM_004132.5(HABP2):c.224-233G>T	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280794	NM_004132.5(HABP2):c.224-116C>T	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 709833	NM_004132.5(HABP2):c.252C>T (p.His84=)	HABP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2520975	NM_004132.5(HABP2):c.253G>A (p.Gly85Ser)	HABP2 (G59S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2636077	NM_004132.5(HABP2):c.259G>A (p.Asp87Asn)	HABP2 (D61N +1 more)	Single nucleotide variant (missense variant)	HABP2-related condition	GUncertain significance
Select item 298900	NM_004132.5(HABP2):c.267C>T (p.Leu89=)	HABP2	Single nucleotide variant (synonymous variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 877806	NM_004132.5(HABP2):c.268G>A (p.Val90Ile)	HABP2 (V90I +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia +1 more	GLikely benign
Select item 2640846	NM_004132.5(HABP2):c.275G>C (p.Gly92Ala)	HABP2 (G66A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1257875	NM_004132.5(HABP2):c.331+80A>G	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234151	NM_004132.5(HABP2):c.331+220T>C	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1684095	NM_004132.5(HABP2):c.331+236A>G	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317100	NM_004132.5(HABP2):c.332-341C>A	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288932	NM_004132.5(HABP2):c.332-151A>C	HABP2, LOC129390229	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 877807	NM_004132.5(HABP2):c.332-10T>G	HABP2, LOC129390229	Single nucleotide variant (intron variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 2275473	NM_004132.5(HABP2):c.332T>C (p.Val111Ala)	HABP2, LOC129390229 (V85A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237634	NM_004132.5(HABP2):c.335A>G (p.Gln112Arg)	HABP2, LOC129390229 (Q86R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 877808	NM_004132.5(HABP2):c.342G>A (p.Thr114=)	HABP2	Single nucleotide variant (synonymous variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 877809	NM_004132.5(HABP2):c.364C>T (p.Arg122Trp)	HABP2 (R96W +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia +3 more	GBenign/Likely benign
Select item 2474541	NM_004132.5(HABP2):c.365G>A (p.Arg122Gln)	HABP2 (R96Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220276	NM_004132.5(HABP2):c.365G>T (p.Arg122Leu)	HABP2 (R122L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370371	NM_004132.5(HABP2):c.387G>C (p.Gln129His)	HABP2 (Q103H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 298901	NM_004132.5(HABP2):c.396C>T (p.Pro132=)	HABP2	Single nucleotide variant (synonymous variant)	Factor VII Marburg I Variant Thrombophilia +1 more	GConflicting classifications of pathogenicity
Select item 2538674	NM_004132.5(HABP2):c.398A>C (p.Tyr133Ser)	HABP2 (Y107S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 298902	NM_004132.5(HABP2):c.402C>T (p.Tyr134=)	HABP2	Single nucleotide variant (synonymous variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 716416	NM_004132.5(HABP2):c.405C>A (p.Arg135=)	HABP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2379785	NM_004132.5(HABP2):c.427A>G (p.Thr143Ala)	HABP2 (T143A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 877810	NM_004132.5(HABP2):c.448+14G>A	HABP2	Single nucleotide variant (intron variant)	Factor VII Marburg I Variant Thrombophilia	GLikely benign
Select item 1242486	NM_004132.5(HABP2):c.448+316T>C	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288592	NM_004132.5(HABP2):c.449-247C>G	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317200	NM_004132.5(HABP2):c.449-108G>A	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236867	NM_004132.5(HABP2):c.449-100A>T	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316967	NM_004132.5(HABP2):c.449-84T>C	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 877972	NM_004132.5(HABP2):c.466C>T (p.Pro156Ser)	HABP2 (P156S +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 2347255	NM_004132.5(HABP2):c.471C>A (p.Asn157Lys)	HABP2 (N157K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466117	NM_004132.5(HABP2):c.473C>T (p.Pro158Leu)	HABP2 (P132L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 298903	NM_004132.5(HABP2):c.497C>T (p.Ser166Phe)	HABP2 (S166F +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia	GLikely benign
Select item 2296213	NM_004132.5(HABP2):c.499C>T (p.Arg167Trp)	HABP2 (R167W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 877973	NM_004132.5(HABP2):c.516C>G (p.Ser172=)	HABP2	Single nucleotide variant (synonymous variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 877974	NM_004132.5(HABP2):c.538G>A (p.Asp180Asn)	HABP2 (D154N +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298904	NM_004132.5(HABP2):c.568+3A>G	HABP2	Single nucleotide variant (intron variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298905	NM_004132.5(HABP2):c.568+9C>T	HABP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1317201	NM_004132.5(HABP2):c.568+202A>T	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282929	NM_004132.5(HABP2):c.569-81T>C	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2550865	NM_004132.5(HABP2):c.578A>T (p.Asp193Val)	HABP2 (D167V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 877975	NM_004132.5(HABP2):c.621T>G (p.Asn207Lys)	HABP2 (N207K +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance

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