Full data view for gene IHH

Information The variants shown are described using the NM_002181.3 transcript reference sequence.

120 entries on 2 pages. Showing entries 1 - 100.
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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.37T>C r.(?) p.(Cys13Arg) Unknown - likely benign g.219925153A>G - IHH(NM_002181.3):c.37T>C (p.(Cys13Arg)) - IHH_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.68C>T r.(?) p.(Pro23Leu) Unknown - VUS g.219925122G>A - IHH(NM_002181.4):c.68C>T (p.P23L) - IHH_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.71C>A r.(?) p.(Ala24Glu) Unknown - VUS g.219925119G>T - IHH(NM_002181.3):c.71C>A (p.(Ala24Glu)) - IHH_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.74C>T r.(?) p.(Ala25Val) Unknown - VUS g.219925116G>A - IHH(NM_002181.3):c.74C>T (p.(Ala25Val)) - IHH_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.128A>G r.(?) p.(Lys43Arg) Unknown - VUS g.219925062T>C - IHH(NM_002181.3):c.128A>G (p.K43R) - IHH_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.143C>T r.(?) p.(Ala48Val) Unknown - VUS g.219925047G>A - IHH(NM_002181.3):c.143C>T (p.(Ala48Val)) - IHH_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.151C>A r.(?) p.(Gln51Lys) Unknown - VUS g.219925039G>T - IHH(NM_002181.3):c.151C>A (p.(Gln51Lys)), IHH(NM_002181.4):c.151C>A (p.Q51K) - IHH_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.151C>A r.(?) p.(Gln51Lys) Unknown - VUS g.219925039G>T - IHH(NM_002181.3):c.151C>A (p.(Gln51Lys)), IHH(NM_002181.4):c.151C>A (p.Q51K) - IHH_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.151C>T r.(?) p.(Gln51*) Unknown - likely pathogenic g.219925039G>A - IHH(NM_002181.3):c.151C>T (p.(Gln51Ter)) - IHH_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.188C>G r.(?) p.(Ala63Gly) Unknown - VUS g.219925002G>C g.219060280G>C IHH(NM_002181.3):c.188C>G (p.A63G) - IHH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.192C>G r.(?) p.(Ser64Arg) Unknown - VUS g.219924998G>C - IHH(NM_002181.4):c.192C>G (p.S64R) - IHH_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.207C>A r.(?) p.(Gly69=) Unknown - likely benign g.219924983G>T - IHH(NM_002181.3):c.207C>A (p.(Gly69=)) - IHH_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.228G>A r.(?) p.(Glu76=) Unknown - likely benign g.219924962C>T g.219060240C>T IHH(NM_002181.3):c.228G>A (p.E76=, p.(Glu76=)) - IHH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.228G>A r.(?) p.(Glu76=) Unknown - VUS g.219924962C>T - IHH(NM_002181.3):c.228G>A (p.E76=, p.(Glu76=)) - IHH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.229C>A r.(?) p.(Arg77Ser) Unknown - VUS g.219924961G>T g.219060239G>T IHH(NM_002181.3):c.229C>A (p.R77S, p.(Arg77Ser)) - IHH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.229C>A r.(?) p.(Arg77Ser) Unknown - VUS g.219924961G>T - IHH(NM_002181.3):c.229C>A (p.R77S, p.(Arg77Ser)) - IHH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.245C>T r.(?) p.(Thr82Ile) Unknown - VUS g.219924945G>A - IHH(NM_002181.3):c.245C>T (p.(Thr82Ile)) - IHH_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.275A>T r.(?) p.(Lys92Met) Unknown - VUS g.219924915T>A g.219060193T>A IHH(NM_002181.3):c.275A>T (p.K92M) - IHH_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.283_285del r.(?) p.(Glu95del) Unknown - pathogenic g.219924908_219924910del g.219060186_219060188del IHH(NM_002181.3):c.283_285del (p.(Glu95del)), IHH(NM_002181.3):c.283_285delGAG (p.E95del) - IHH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.283_285del r.(?) p.(Glu95del) Unknown - pathogenic g.219924908_219924910del g.219060186_219060188del IHH(NM_002181.3):c.283_285del (p.(Glu95del)), IHH(NM_002181.3):c.283_285delGAG (p.E95del) - IHH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.283_285del r.(?) p.(Glu95del) Unknown - pathogenic g.219924908_219924910del - IHH(NM_002181.3):c.283_285del (p.(Glu95del)), IHH(NM_002181.3):c.283_285delGAG (p.E95del) - IHH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.298G>C r.(?) p.(Asp100His) Unknown - likely pathogenic g.219924892C>G - - - IHH_000051 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - BDA1 - - - - - - - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
+?/. 1 c.299A>G r.(?) p.(Asp100Gly) Paternal (confirmed) - pathogenic (dominant) g.219924891T>C g.219060169T>C - - IHH_000020 - - - - Germline - - - - - DNA SEQ-NG Perpheral Blood - BDA1 - - - F - China - - - - - 1 Yangqi
+?/. - c.308T>A r.(?) p.(Met103Lys) Unknown - likely pathogenic g.219924882A>T - - - IHH_000030 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.314A>T r.(?) p.(Gln105Leu) Unknown - VUS g.219924876T>A - IHH(NM_002181.3):c.314A>T (p.(Gln105Leu)) - IHH_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.315+6C>G r.(=) p.(=) Unknown - likely benign g.219924869G>C - IHH(NM_002181.3):c.315+6C>G (p.(=)) - IHH_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.315+8C>T r.(=) p.(=) Unknown - benign g.219924867G>A g.219060145G>A IHH(NM_002181.3):c.315+8C>T (p.(=)) - IHH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.315+8C>T r.(=) p.(=) Unknown - likely benign g.219924867G>A g.219060145G>A IHH(NM_002181.3):c.315+8C>T (p.(=)) - IHH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.316-18C>T r.(=) p.(=) Unknown - likely benign g.219922434G>A - IHH(NM_002181.3):c.316-18C>T (p.(=)) - IHH_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.316-13_316-10del r.(=) p.(=) Unknown - likely benign g.219922427_219922430del - IHH(NM_002181.3):c.316-13_316-10del (p.(=)) - IHH_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.320G>T r.(?) p.(Cys107Phe) Unknown - VUS g.219922412C>A g.219057690C>A - - IHH_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.328C>G r.(?) p.(Arg110Gly) Unknown - VUS g.219922404G>C - IHH(NM_002181.3):c.328C>G (p.(Arg110Gly)) - IHH_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.352G>A r.(?) p.(Val118Met) Unknown - likely pathogenic g.219922380C>T g.219057658C>T - - IHH_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.352G>A r.(?) p.(Val118Met) Both (homozygous) - likely pathogenic (recessive) g.219922380C>T g.219057658C>T NM_002181.3:c.352G>A:p.(Val118Met) - IHH_000013 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 17DG0806 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - 1 LOVD
?/. - c.352G>T r.(?) p.(Val118Leu) Unknown - VUS g.219922380C>A - IHH(NM_002181.3):c.352G>T (p.(Val118Leu)) - IHH_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.367C>T r.(?) p.(Pro123Ser) Unknown - VUS g.219922365G>A - IHH(NM_002181.3):c.367C>T (p.(Pro123Ser)) - IHH_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.368C>T r.(?) p.(Pro123Leu) Unknown - VUS g.219922364G>A - IHH(NM_002181.3):c.368C>T (p.(Pro123Leu)) - IHH_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.368C>T r.(?) p.(Pro123Leu) Unknown - VUS g.219922364G>A - IHH(NM_002181.3):c.368C>T (p.(Pro123Leu)) - IHH_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.382C>T r.(?) p.(Arg128Trp) Unknown - VUS g.219922350G>A - IHH(NM_002181.4):c.382C>T (p.R128W) - IHH_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.383G>T r.(?) p.(Arg128Leu) Unknown - pathogenic g.219922349C>A g.219057627C>A IHH(NM_002181.3):c.383G>T (p.R128L) - IHH_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.390C>G r.(?) p.(Thr130=) Unknown - likely benign g.219922342G>C - IHH(NM_002181.3):c.390C>G (p.(Thr130=)) - IHH_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.403G>T r.(?) p.(Glu135*) Unknown - VUS g.219922329C>A - - - IHH_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.428C>A r.(?) p.(Ser143Tyr) Unknown - VUS g.219922304G>T g.219057582G>T IHH(NM_002181.3):c.428C>A (p.S143Y) - IHH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.433C>T r.(?) p.(His145Tyr) Unknown - likely pathogenic g.219922299G>A - IHH(NM_002181.3):c.433C>T (p.(His145Tyr)) - IHH_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.454G>T r.(?) p.(Asp152Tyr) Unknown - VUS g.219922278C>A - - - IHH_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.457A>T r.(?) p.(Ile153Phe) Unknown - likely benign g.219922275T>A - IHH(NM_002181.3):c.457A>T (p.(Ile153Phe)) - IHH_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.471C>A r.(?) p.(Asp157Glu) Unknown - VUS g.219922261G>T - IHH(NM_002181.3):c.471C>A (p.(Asp157Glu)) - IHH_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.482A>G r.(?) p.(Asn161Ser) Unknown - VUS g.219922250T>C - IHH(NM_002181.3):c.482A>G (p.(Asn161Ser)) - IHH_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.486G>T r.(?) p.(Lys162Asn) Unknown - VUS g.219922246C>A - IHH(NM_002181.3):c.486G>T (p.(Lys162Asn)) - IHH_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.502C>T r.(?) p.(Arg168Cys) Unknown - VUS g.219922230G>A - - - IHH_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.519C>G r.(?) p.(=) Unknown - likely benign g.219922213G>C - IHH(NM_002181.3):c.519C>G (p.(=)) - IHH_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.565T>C r.(?) p.(Ser189Pro) Unknown - VUS g.219922167A>G - IHH(NM_002181.3):c.565T>C (p.(Ser189Pro)) - IHH_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.568_570del r.(?) p.(Val190del) Unknown - VUS g.219922163_219922165del - - - IHH_000097 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.569T>C r.(?) p.(Val190Ala) Unknown - pathogenic g.219922163A>G - IHH(NM_002181.3):c.569T>C (p.(Val190Ala)) - IHH_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.571A>G r.(?) p.(Lys191Glu) Unknown - VUS g.219922161T>C - IHH(NM_002181.3):c.571A>G (p.(Lys191Glu)) - IHH_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.577+20C>T r.(=) p.(=) Unknown - likely benign g.219922135G>A - IHH(NM_002181.3):c.577+20C>T (p.(=)) - IHH_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.585G>A r.(?) p.(Ser195=) Unknown - likely benign g.219920580C>T - IHH(NM_002181.3):c.585G>A (p.(Ser195=)) - IHH_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.589G>A r.(?) p.(Ala197Thr) Unknown - VUS g.219920576C>T - - - IHH_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.600G>A r.(?) p.(Thr200=) Unknown - benign g.219920565C>T g.219055843C>T IHH(NM_002181.3):c.600G>A (p.T200=) - IHH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.603C>T r.(?) p.(Gly201=) Unknown - likely benign g.219920562G>A - IHH(NM_002181.3):c.603C>T (p.(=)) - IHH_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.618C>T r.(?) p.(Ala206=) Unknown - benign g.219920547G>A g.219055825G>A IHH(NM_002181.3):c.618C>T (p.A206=, p.(Ala206=)) - IHH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.618C>T r.(?) p.(Ala206=) Unknown - likely benign g.219920547G>A - IHH(NM_002181.3):c.618C>T (p.A206=, p.(Ala206=)) - IHH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.646G>A r.(?) p.(Ala216Thr) Unknown - likely benign g.219920519C>T - IHH(NM_002181.3):c.646G>A (p.(Ala216Thr)) - IHH_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.647C>T r.(?) p.(Ala216Val) Unknown - likely benign g.219920518G>A - IHH(NM_002181.3):c.647C>T (p.(Ala216Val)) - IHH_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.648G>A r.(?) p.(=) Unknown - likely benign g.219920517C>T - IHH(NM_002181.3):c.648G>A (p.(Ala216=)) - IHH_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.650G>A r.(?) p.(Arg217His) Unknown - VUS g.219920515C>T - IHH(NM_002181.3):c.650G>A (p.(Arg217His)) - IHH_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.662C>T r.(?) p.(Ser221Leu) Unknown - VUS g.219920503G>A - IHH(NM_002181.3):c.662C>T (p.(Ser221Leu)) - IHH_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.674C>T r.(?) p.(Pro225Leu) Unknown - VUS g.219920491G>A - IHH(NM_002181.3):c.674C>T (p.(Pro225Leu)) - IHH_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.682C>T r.(?) p.(Arg228Cys) Unknown - VUS g.219920483G>A - IHH(NM_002181.3):c.682C>T (p.(Arg228Cys)) - IHH_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.683G>A r.(?) p.(Arg228His) Unknown - VUS g.219920482C>T - IHH(NM_002181.4):c.683G>A (p.(Arg228His)) - IHH_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.694A>G r.(?) p.(Met232Val) Unknown - likely benign g.219920471T>C - IHH(NM_002181.3):c.694A>G (p.(Met232Val)) - IHH_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.695T>C r.(?) p.(Met232Thr) Unknown - VUS g.219920470A>G - IHH(NM_002181.3):c.695T>C (p.(Met232Thr)) - IHH_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.702G>A r.(?) p.(Glu234=) Unknown - likely benign g.219920463C>T - IHH(NM_002181.3):c.702G>A (p.(Glu234=)) - IHH_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.726T>C r.(?) p.(Asp242=) Unknown - likely benign g.219920439A>G - IHH(NM_002181.3):c.726T>C (p.(=)) - IHH_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.733A>G r.(?) p.(Ile245Val) Unknown - likely benign g.219920432T>C - IHH(NM_002181.3):c.733A>G (p.(Ile245Val)) - IHH_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.746G>A r.(?) p.(Arg249His) Unknown - likely benign g.219920419C>T - IHH(NM_002181.3):c.746G>A (p.(Arg249His)) - IHH_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.753T>C r.(?) p.(Pro251=) Unknown - benign g.219920412A>G g.219055690A>G IHH(NM_002181.3):c.753T>C (p.P251=), IHH(NM_002181.4):c.753T>C (p.P251=) - IHH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.753T>C r.(?) p.(Pro251=) Unknown - benign g.219920412A>G g.219055690A>G IHH(NM_002181.3):c.753T>C (p.P251=), IHH(NM_002181.4):c.753T>C (p.P251=) - IHH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.755A>G r.(?) p.(His252Arg) Unknown - likely benign g.219920410T>C - IHH(NM_002181.3):c.755A>G (p.(His252Arg)) - IHH_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.781G>A r.(?) p.(Glu261Lys) Unknown - likely benign g.219920384C>T - IHH(NM_002181.3):c.781G>A (p.(Glu261Lys)) - IHH_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.802C>T r.(?) p.(Arg268Cys) Unknown - VUS g.219920363G>A - IHH(NM_002181.4):c.802C>T (p.R268C) - IHH_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.803G>A r.(?) p.(Arg268His) Unknown - VUS g.219920362C>T - IHH(NM_002181.3):c.803G>A (p.(Arg268His)) - IHH_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.816A>G r.(?) p.(Thr272=) Unknown - likely benign g.219920349T>C - IHH(NM_002181.3):c.816A>G (p.(=)) - IHH_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.819C>T r.(?) p.(Pro273=) Unknown - likely benign g.219920346G>A - IHH(NM_002181.3):c.819C>T (p.(Pro273=)) - IHH_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.829C>T r.(?) p.(Leu277Phe) Unknown - VUS g.219920336G>A g.219055614G>A IHH(NM_002181.3):c.829C>T (p.(Leu277Phe)) - IHH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.829C>T r.(?) p.(Leu277Phe) Unknown - VUS g.219920336G>A - IHH(NM_002181.3):c.829C>T (p.(Leu277Phe)) - IHH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.836C>T r.(?) p.(Thr279Met) Unknown - likely benign g.219920329G>A g.219055607G>A IHH(NM_002181.3):c.836C>T (p.T279M, p.(Thr279Met)) - IHH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.836C>T r.(?) p.(Thr279Met) Unknown - likely benign g.219920329G>A g.219055607G>A IHH(NM_002181.3):c.836C>T (p.T279M, p.(Thr279Met)) - IHH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.837G>A r.(?) p.(=) Unknown - VUS g.219920328C>T - IHH(NM_002181.3):c.837G>A (p.(Thr279=)) - IHH_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.857C>T r.(?) p.(Pro286Leu) Unknown - likely benign g.219920308G>A g.219055586G>A IHH(NM_002181.3):c.857C>T (p.P286L, p.(Pro286Leu)) - IHH_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.857C>T r.(?) p.(Pro286Leu) Unknown - likely benign g.219920308G>A - IHH(NM_002181.3):c.857C>T (p.P286L, p.(Pro286Leu)) - IHH_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.857C>T r.(?) p.(Pro286Leu) Unknown - VUS g.219920308G>A g.219055586G>A - - IHH_000015 - PubMed: Plachy 2019 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES stature, short Pat4 PubMed: Plachy 2019 - M - Czech Republic - - - - - 1 Johan den Dunnen
-?/. - c.858G>A r.(?) p.(=) Unknown - likely benign g.219920307C>T - IHH(NM_002181.3):c.858G>A (p.(Pro286=)) - IHH_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.866G>A r.(?) p.(Arg289His) Unknown - VUS g.219920299C>T - IHH(NM_002181.3):c.866G>A (p.(Arg289His)) - IHH_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.873G>A r.(?) p.(Arg291=) Unknown - likely benign g.219920292C>T g.219055570C>T IHH(NM_002181.3):c.873G>A (p.R291=, p.(Arg291=)) - IHH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.873G>A r.(?) p.(Arg291=) Unknown - likely benign g.219920292C>T - IHH(NM_002181.3):c.873G>A (p.R291=, p.(Arg291=)) - IHH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.877A>G r.(?) p.(Thr293Ala) Unknown - VUS g.219920288T>C - IHH(NM_002181.3):c.877A>G (p.(Thr293Ala)) - IHH_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.910G>A r.(?) p.(Val304Met) Unknown - VUS g.219920255C>T - IHH(NM_002181.3):c.910G>A (p.(Val304Met)) - IHH_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.925G>A r.(?) p.(Val309Met) Unknown - likely benign g.219920240C>T - IHH(NM_002181.3):c.925G>A (p.(Val309Met)) - IHH_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.936G>T r.(?) p.(Leu312=) Unknown - likely benign g.219920229C>A - IHH(NM_002181.3):c.936G>T (p.(Leu312=)) - IHH_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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