Full data view for gene HABP2

Information The variants shown are described using the NM_004132.3 transcript reference sequence.

59 entries on 1 page. Showing entries 1 - 59.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.70-5T>G r.spl? p.? Unknown - likely benign g.115327243T>G g.113567484T>G HABP2(NM_004132.4):c.70-5T>G - HABP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.95G>T r.(?) p.(Ser32Ile) Unknown - likely benign g.115327273G>T g.113567514G>T HABP2(NM_004132.4):c.95G>T (p.S32I) - HABP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.188A>C r.(?) p.(Glu63Ala) Unknown ACMG VUS g.115334129A>C g.113574370A>C - - HABP2_000039 pathogenic/ ikely pathogenic monoallelic variants are associated with {Venous thromboembolism, susceptibility to} (OMIM # 188050) Journal: Romano 2025 - - Germline ? - - - - DNA SEQ-NG blood - VMCM Pat6 Journal: Romano 2025 - - no Italy - - - - - 1 Ferruccio Romano
-?/. - c.497C>T r.(?) p.(Ser166Phe) Unknown - likely benign g.115337833C>T g.113578074C>T HABP2(NM_004132.4):c.497C>T (p.S166F) - HABP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.508C>T r.(?) p.(Arg170Trp) Unknown - VUS g.115337844C>T g.113578085C>T HABP2(NM_004132.4):c.508C>T (p.R170W) - HABP2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.607C>T r.(?) p.(Arg203Ter) Unknown - VUS g.115338424C>T g.113578665C>T HABP2(NM_001177660.1):c.529C>T (p.(Arg177*)), HABP2(NM_004132.4):c.607C>T (p.R203*), HABP2(NM_004132.5):c.607C>T (p.R203*) - HABP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.607C>T r.(?) p.(Arg203Ter) Unknown - likely benign g.115338424C>T g.113578665C>T HABP2(NM_001177660.1):c.529C>T (p.(Arg177*)), HABP2(NM_004132.4):c.607C>T (p.R203*), HABP2(NM_004132.5):c.607C>T (p.R203*) - HABP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.607C>T r.(?) p.(Arg203Ter) Unknown - VUS g.115338424C>T g.113578665C>T HABP2(NM_001177660.1):c.529C>T (p.(Arg177*)), HABP2(NM_004132.4):c.607C>T (p.R203*), HABP2(NM_004132.5):c.607C>T (p.R203*) - HABP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.636G>A r.(?) p.(Gln212=) Unknown - likely benign g.115338453G>A g.113578694G>A HABP2(NM_004132.4):c.636G>A (p.Q212=) - HABP2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.773T>C r.(?) p.(Phe258Ser) Unknown - likely pathogenic g.115340386T>C - - - HABP2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.842T>C r.(?) p.(Val281Ala) Unknown - likely benign g.115341638T>C g.113581879T>C HABP2(NM_004132.4):c.842T>C (p.V281A) - HABP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.947G>A r.(?) p.(Gly316Glu) Parent #1 - likely benign g.115341743G>A g.113581984G>A - - HABP2_000016 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs138864377 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.966G>A r.(?) p.(=) Unknown - VUS g.115341762G>A - HABP2(NM_004132.5):c.966G>A (p.(Ala322=)) - HABP2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1238-3T>C r.spl? p.? Unknown - likely benign g.115343904T>C - HABP2(NM_004132.4):c.1238-3T>C - HABP2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1372+7C>T r.(=) p.(=) Unknown - likely benign g.115344048C>T - HABP2(NM_004132.4):c.1372+7C>T - HABP2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1519-316C>A r.(=) p.(=) Both (homozygous) - VUS g.115347648C>A g.113587889C>A - - HABP2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.1554C>T r.(?) p.(Asp518=) Unknown - likely benign g.115347999C>T - HABP2(NM_004132.4):c.1554C>T (p.D518=) - HABP2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1601G>A r.(?) p.(Gly534Glu) Parent #1 - likely benign g.115348046G>A g.113588287G>A - - HABP2_000017 42 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs7080536 Germline - 42/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 42 Mohammed Faruq
-/. - c.1601G>A r.(?) p.(Gly534Glu) Unknown - benign g.115348046G>A - HABP2(NM_001177660.1):c.1523G>A (p.(Gly508Glu)) - HABP2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1066T>C r.(?) p.(=) Unknown ACMG VUS g.115349194T>C g.113589435T>C - - HABP2_000045 - - - - De novo - 1/12 trios - - - DNA MS, SEQ-NG-I blood WGS ADHD 318C - - M ? Hong Kong Chinese - - - - 1 Larry Baum
-?/. - c.*1334A>T r.(=) p.(=) Unknown - likely benign g.115349462A>T g.113589703A>T NRAP(NM_001261463.1):c.5051T>A (p.L1684Q) - NRAP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3889T>C r.(=) p.(=) Unknown - VUS g.115352017T>C - NRAP(NM_198060.4):c.4580A>G (p.(Tyr1527Cys)) - HABP2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*9616C>G r.(=) p.(=) Unknown - VUS g.115357744C>G g.113597985C>G NRAP(NM_001261463.1):c.4316G>C (p.(Gly1439Ala)) - NRAP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*16437G>T r.(=) p.(=) Unknown - VUS g.115364565G>T - NRAP(NM_001261463.2):c.4030C>A (p.L1344I) - HABP2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*16457A>G r.(=) p.(=) Unknown - likely benign g.115364585A>G g.113604826A>G NRAP(NM_001261463.1):c.4010T>C (p.M1337T) - NRAP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*16520C>T r.(=) p.(=) Unknown - VUS g.115364648C>T - NRAP(NM_001261463.2):c.3947G>A (p.R1316Q) - HABP2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*17912C>T r.(=) p.(=) Unknown - VUS g.115366040C>T g.113606281C>T NRAP(NM_001261463.1):c.3704G>A (p.R1235H) - NRAP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*22184C>T r.(=) p.(=) Unknown - VUS g.115370312C>T - NRAP(NM_001261463.2):c.3509G>A (p.R1170Q) - HABP2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*24028G>A r.(=) p.(=) Unknown - benign g.115372156G>A g.113612397G>A NRAP(NM_001261463.1):c.3335C>T (p.A1112V) - NRAP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*26493C>T r.(=) p.(=) Unknown - likely benign g.115374621C>T g.113614862C>T NRAP(NM_001261463.1):c.3163G>A (p.A1055T) - NRAP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*26520C>T r.(=) p.(=) Unknown - VUS g.115374648C>T g.113614889C>T NRAP(NM_001261463.1):c.3136G>A (p.D1046N) - NRAP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*29096T>G r.(=) p.(=) Unknown - likely benign g.115377224T>G g.113617465T>G NRAP(NM_001261463.1):c.2963A>C (p.Q988P) - NRAP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*32291C>T r.(=) p.(=) Unknown - likely benign g.115380419C>T g.113620660C>T NRAP(NM_001261463.1):c.2818G>A (p.A940T), NRAP(NM_001261463.2):c.2818G>A (p.A940T) - NRAP_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*32291C>T r.(=) p.(=) Unknown - likely benign g.115380419C>T - NRAP(NM_001261463.1):c.2818G>A (p.A940T), NRAP(NM_001261463.2):c.2818G>A (p.A940T) - NRAP_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*32368dup r.(?) p.(=) Unknown - benign g.115380496dup - NRAP(NM_001261463.2):c.2770-17dupT - HABP2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*33496T>A r.(=) p.(=) Unknown - VUS g.115381624T>A - NRAP(NM_001261463.1):c.2769+4A>T - HABP2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*33618C>T r.(=) p.(=) Unknown - VUS g.115381746C>T - NRAP(NM_001261463.1):c.2651G>A (p.R884H) - HABP2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*33768A>G r.(=) p.(=) Unknown - VUS g.115381896A>G - NRAP(NM_001261463.1):c.2501T>C (p.I834T), NRAP(NM_001261463.2):c.2501T>C (p.I834T) - HABP2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*33768A>G r.(=) p.(=) Unknown - likely benign g.115381896A>G - NRAP(NM_001261463.1):c.2501T>C (p.I834T), NRAP(NM_001261463.2):c.2501T>C (p.I834T) - HABP2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*35200G>C r.(=) p.(=) Unknown - likely benign g.115383328G>C g.113623569G>C NRAP(NM_001261463.1):c.2417C>G (p.T806S) - HABP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*41216C>T r.(=) p.(=) Unknown - likely benign g.115389344C>T - NRAP(NM_001261463.1):c.2040+3G>A - HABP2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*41228G>A r.(=) p.(=) Unknown - benign g.115389356G>A - NRAP(NM_001261463.2):c.2031C>T (p.L677=) - HABP2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*41238G>A r.(=) p.(=) Unknown - benign g.115389366G>A - NRAP(NM_001261463.2):c.2021C>T (p.A674V) - HABP2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*41320C>T r.(=) p.(=) Unknown - VUS g.115389448C>T - NRAP(NM_001261463.2):c.1939G>A (p.A647T) - HABP2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*44820C>A r.(=) p.(=) Unknown - likely pathogenic g.115392948C>A - NRAP(NM_001261463.1):c.1528-1G>T - HABP2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*53054C>T r.(=) p.(=) Unknown - likely benign g.115401182C>T g.113641423C>T NRAP(NM_001261463.1):c.1265G>A (p.(Gly422Glu)) - HABP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*57452G>A r.(=) p.(=) Unknown - likely benign g.115405580G>A g.113645821G>A NRAP(NM_001261463.1):c.1110+4C>T (p.?) - HABP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*57460C>G r.(=) p.(=) Unknown - VUS g.115405588C>G - NRAP(NM_198060.4):c.1106G>C (p.(Ser369Thr)) - HABP2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*57487T>C r.(=) p.(=) Unknown - benign g.115405615T>C - NRAP(NM_001261463.2):c.1079A>G (p.Q360R) - HABP2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*57520G>A r.(=) p.(=) Unknown - VUS g.115405648G>A g.113645889G>A NRAP(NM_001261463.1):c.1046C>T (p.S349L) - HABP2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*57536C>T r.(=) p.(=) Unknown - benign g.115405664C>T - NRAP(NM_001261463.2):c.1030G>A (p.A344T) - HABP2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*57584_*57585dup r.(=) p.(=) Unknown - benign g.115405712_115405713dup g.113645953_113645954dup NRAP(NM_001261463.1):c.994-5_994-4dupTT - HABP2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*57585dup r.(?) p.(=) Unknown - likely benign g.115405713dup g.113645954dup NRAP(NM_001261463.1):c.994-4dupT - NRAP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*57585dup r.(?) p.(=) Unknown - benign g.115405713dup g.113645954dup NRAP(NM_001261463.1):c.994-4dupT - NRAP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*61666A>G r.(=) p.(=) Unknown - likely pathogenic g.115409794A>G - NRAP(NM_001261463.1):c.888+2T>C - HABP2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*63486A>G r.(=) p.(=) Unknown - benign g.115411614A>G - NRAP(NM_001261463.2):c.623T>C (p.V208A) - HABP2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*64558G>A r.(=) p.(=) Unknown - benign g.115412686G>A - NRAP(NM_001261463.2):c.570+8C>T - HABP2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*64687A>C r.(=) p.(=) Unknown - VUS g.115412815A>C - NRAP(NM_001261463.1):c.466-17T>G - HABP2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*69161G>A r.(=) p.(=) Unknown - benign g.115417289G>A - NRAP(NM_001261463.2):c.300C>T (p.H100=) - HABP2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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