"GeneDx"[submitter] AND "HABP2"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1269429	NM_001177660.3(HABP2):c.-10+1886G>A	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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)	Factor VII Marburg I Variant Thrombophilia +1 more	GLikely benign
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 298896	NM_004132.5(HABP2):c.95G>T (p.Ser32Ile)	HABP2 (S32I +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia +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 298898	NM_004132.5(HABP2):c.183C>T (p.His61=)	HABP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 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 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 298905	NM_004132.5(HABP2):c.568+9C>T	HABP2	Single nucleotide variant (intron variant)	Factor VII Marburg I Variant Thrombophilia +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 1180341	NM_004132.5(HABP2):c.740+58A>G	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280436	NM_004132.5(HABP2):c.740+231G>A	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281947	NM_004132.5(HABP2):c.740+312dup	HABP2	Duplication (intron variant)	not provided	GBenign
Select item 1291189	NM_004132.5(HABP2):c.740+312del	HABP2	Deletion (intron variant)	not provided	GBenign
Select item 1317597	NM_004132.5(HABP2):c.741-81C>T	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 298908	NM_004132.5(HABP2):c.830C>T (p.Ser277Leu)	HABP2 (S277L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1318098	NM_004132.5(HABP2):c.838+38G>A	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225214	NM_004132.5(HABP2):c.838+41G>A	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289509	NM_004132.5(HABP2):c.838+147C>T	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317606	NM_004132.5(HABP2):c.838+208G>T	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251574	NM_004132.5(HABP2):c.839-90G>C	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 298912	NM_004132.5(HABP2):c.957G>A (p.Lys319=)	HABP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 298915	NM_004132.5(HABP2):c.1050G>A (p.Ala350=)	HABP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1318297	NM_004132.5(HABP2):c.1095-183C>T	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 298916	NM_004132.5(HABP2):c.1095-6T>C	HABP2	Single nucleotide variant (intron variant)	Factor VII Marburg I Variant Thrombophilia +1 more	GLikely benign
Select item 298918	NM_004132.5(HABP2):c.1177G>C (p.Glu393Gln)	HABP2 (E393Q +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia +1 more	GLikely benign
Select item 1291252	NM_004132.5(HABP2):c.1237+170C>T	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262882	NM_004132.5(HABP2):c.1238-321C>T	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181239	NM_004132.5(HABP2):c.1238-207G>A	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259823	NM_004132.5(HABP2):c.1238-104C>T	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242543	NM_004132.5(HABP2):c.1238-76A>T	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275306	NM_004132.5(HABP2):c.1238-55C>G	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283165	NM_004132.5(HABP2):c.1372+314A>G	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261197	NM_004132.5(HABP2):c.1373-261C>T	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1691801	NM_004132.5(HABP2):c.1373-199T>C	HABP2	Single nucleotide variant	not provided	GLikely benign
Select item 1526352	NM_004132.5(HABP2):c.1518+104A>T	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276514	NM_004132.5(HABP2):c.1518+153T>C	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278059	NM_004132.5(HABP2):c.1519-316C>A	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281107	NM_004132.5(HABP2):c.1519-76C>A	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 5974	NM_004132.5(HABP2):c.1601G>A (p.Gly534Glu)	HABP2 (G534E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 298930	NM_198060.4(NRAP):c.*7del	HABP2, NRAP	Deletion (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia +1 more	GBenign/Likely benign
Select item 298935	NM_198060.4(NRAP):c.5089-78C>T	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia +1 more	GBenign
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 79