All variants in the SHH gene

Information The variants shown are described using the NM_000193.2 transcript reference sequence.

84 entries on 1 page. Showing entries 1 - 84.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Type/DNA     

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     

Owner     
?/. - c.? r.(?) p.(Val366Ala) - - VUS g.? - - - EZH2_000001 - PubMed: Heidet 2017 - - Germline - - - 0 - Johan den Dunnen
-/. - c.-125G>A r.(=) p.(=) - - benign g.155604941C>T g.155812247C>T - - SHH_000036 173 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs9333594 Germline - 173/2795 individuals - 0 - Mohammed Faruq
-/. - c.-125G>A r.(=) p.(=) - - benign g.155604941C>T g.155812247C>T - - SHH_000036 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs9333594 Germline - 4/2795 individuals - 0 - Mohammed Faruq
+/. _1 - r.? p.? - - pathogenic (dominant) g.156585476C>G g.156792782C>G - - LMBR1_000018 mapped by linkage LOD score 3.0; variant in evolutionary conserved pZRS region; functional characterization mouse transgenic enhancer assay showed extended ectopic expression dispersed throughout entire limb bud (E11.5) PubMed: Potuijt 2018 - - Germline yes - - 0 - Johan den Dunnen
+/. _1 - r.? p.? - - pathogenic (dominant) g.156584465G>C - ZRS 105C>G - LMBR1_000007 not in 1354 control chromosomes; variant in SHH regulatory element PubMed: Lettice 2003 - - Germline yes - - 0 - Johan den Dunnen
+/. _1 - r.? p.? - - pathogenic (dominant) g.156584265T>A - ZRS 305A>T - LMBR1_000022 variant in SHH regulatory element PubMed: Lettice 2003 - - Germline yes - - 0 - Johan den Dunnen
+/. _1 - r.? p.? - - pathogenic (dominant) g.156584241A>G - ZRS 323T>C - LMBR1_000023 variant in SHH regulatory element PubMed: Lettice 2003 - - Germline yes - - 0 - Johan den Dunnen
+/. _1 - r.? p.? - - pathogenic (dominant) g.156584166C>T - ZRS 404G>A - LMBR1_000024 variant in SHH regulatory element PubMed: Lettice 2003 - - Germline yes - - 0 - Johan den Dunnen
+/. _1 - r.? p.? - - pathogenic (dominant) g.156584166C>T - g.105213G>A - LMBR1_000024 variant in SHH regulatory element PubMed: Wieczorek 2010 - - Germline yes - - 0 - Johan den Dunnen
+/. _1 - r.? p.? - - pathogenic (dominant) g.156584166C>G - g.105213G>C - LMBR1_000031 variant in SHH regulatory element PubMed: Wieczorek 2010 - - Germline yes - - 0 - Johan den Dunnen
+/. - - r.? p.? - - pathogenic (dominant) g.(156572692_156572751)_(156661818_156661877)dup g.(156779998_156780057)_(156869124_156869183)dup - hg18 arr7q36.3(156,265,512x2,156,265,453–156,354,638x3,156,354,579x2) LMBR1_000025 73kb duplication; variant covers SHH regulatory element PubMed: Wieczorek 2010 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. _1 - r.? p.? - - pathogenic (dominant) g.(156368541_156396066)_(156661818_156661877)dup - hg18 arr7q36.3 (156,061,302x2,156,088,827–156,354,638x3,156,354,579x2) - LMBR1_000026 276kb duplication; variant covering SHH regulatory element PubMed: Wieczorek 2010 - - Germline yes - - 0 - Johan den Dunnen
+/. _1 - r.? p.? - - pathogenic (dominant) g.156584166C>T - ZRS 404G>A - LMBR1_000024 variant in SHH regulatory element PubMed: Norbnop 2014 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. _1 - r.? p.? - - pathogenic (dominant) g.156584164T>C - - - LMBR1_000027 variant in SHH regulatory element PubMed: Norbnop 2014 - - Germline/De novo (untested) yes - - 0 - Johan den Dunnen
+/. _1 - r.? p.? - - pathogenic (dominant) g.156584164T>C - ZRS 406A>G - LMBR1_000027 variant in SHH regulatory element PubMed: Norbnop 2014 - - Germline yes - - 0 - Johan den Dunnen
+/. _1 - r.? p.? - - pathogenic (dominant) g.156584164T>C - ZRS 406A>G - LMBR1_000027 variant in SHH regulatory element PubMed: Norbnop 2014 - - Germline yes - - 0 - Johan den Dunnen
+/. _1 - r.? p.? - - pathogenic (recessive) g.(156615799_156616599)_(156620638_156621938)del g.(156823105_156823905)_(156827944_156829244)del 1.2–2.5kb 5′exon 4 2.7–3.5kb 3′ - LMBR1_000028 variant may influence SHH expression PubMed: Ianakiev 2001 - - Germline yes - - 0 - Johan den Dunnen
+/. _1 - r.? p.? - - pathogenic (recessive) g.(156615799_156616599)_(156620638_156621938)del g.(156823105_156823905)_(156827944_156829244)del 1.2–2.5kb 5′exon 4 2.7–3.5kb 3′ - LMBR1_000028 variant may influence SHH expression PubMed: Ianakiev 2001 - - Germline yes - - 0 - Johan den Dunnen
+/. _1 - r.? p.? - - pathogenic (recessive) g.(156615799_156616599)_(156620638_156621938)del g.(156823105_156823905)_(156827944_156829244)del 1.2–2.5kb 5′exon 4 2.7–3.5kb 3′ - LMBR1_000028 variant may influence SHH expression PubMed: Ianakiev 2001 - - Germline yes - - 0 - Johan den Dunnen
+/. _1 - r.? p.? - - pathogenic (recessive) g.(156615799_156616599)_(156620638_156621938)del g.(156823105_156823905)_(156827944_156829244)del 1.2–2.5kb 5′exon 4 2.7–3.5kb 3′ - LMBR1_000028 variant may influence SHH expression PubMed: Ianakiev 2001 - - Germline yes - - 0 - Johan den Dunnen
+/. _1 - r.? p.? - - pathogenic (recessive) g.(156615799_156616599)_(156620638_156621938)del g.(156823105_156823905)_(156827944_156829244)del 1.2–2.5kb 5′exon 4 2.7–3.5kb 3′ - LMBR1_000028 variant may influence SHH expression PubMed: Ianakiev 2001 - - Germline yes - - 0 - Johan den Dunnen
+/. _1 - r.? p.? - - pathogenic (dominant) g.(156539711_156556378)_(156687612_156699894)dup - - - LMBR1_000029 variant may affect SHH expression PubMed: Sun 2008 - - Germline yes - - 0 - Johan den Dunnen
+/. _1 - r.? p.? - - pathogenic (dominant) g.(156241127_156354086)_(156645102_156677758)dup - - - LMBR1_000036 variant may affect SHH expression PubMed: Sun 2008 - - Germline yes - - 0 - Johan den Dunnen
+/. _1 - r.? p.? - - pathogenic (dominant) g.(156354234_156431379)_(156589132_156619299)dup - - - LMBR1_000034 variant may affect SHH expression PubMed: Sun 2008 - - Germline yes - - 0 - Johan den Dunnen
+/. _1 - r.? p.? - - pathogenic (dominant) g.(156354234_156431379)_(156677758_156687494)dup - - - LMBR1_000035 variant may affect SHH expression PubMed: Sun 2008 - - Germline yes - - 0 - Johan den Dunnen
+/. _1 - r.? p.? - - pathogenic (dominant) g.(156241127_156354086)_(156589132_156619299)dup - - - LMBR1_000032 variant may affect SHH expression PubMed: Sun 2008 - - Germline yes - - 0 - Johan den Dunnen
+/. _1 - r.? p.? - - pathogenic (dominant) g.(?_156241021)_(156687612_156699894)dup - - - LMBR1_000033 variant may affect SHH expression PubMed: Sun 2008 - - Germline yes - - 0 - Johan den Dunnen
+/. _1 - r.? p.? - - pathogenic (dominant) g.156583831T>C - ZRS 739A>G - LMBR1_000037 variant in SHH regulatory element PubMed: Gurnett 2007 - - Germline yes - - 0 - Johan den Dunnen
+/. _1 - r.? p.? - - pathogenic (dominant) g.156583831T>C - ZRS 739A>G - LMBR1_000037 variant in SHH regulatory element PubMed: Gurnett 2007 - - Germline yes - - 0 - Johan den Dunnen
+/. _1 - r.? p.? - - pathogenic (dominant) g.156583949G>C - ZRS 621C>G - LMBR1_000007 variant in SHH regulatory element PubMed: Gurnett 2007 - - Germline yes - - 0 - Johan den Dunnen
+/+ 1 c.11_14dup r.(?) p.(Arg6Glyfs*59) - - pathogenic g.155604805_155604808dup g.155812111_155812114dup - - SHH_000001 Alobar PubMed: Nanni et al.1999 - - Unknown - - - 0 - Aimee Paulussen
+/+ 1 c.17G>C r.(?) p.(Arg6Thr) - - pathogenic g.155604800C>G g.155812106C>G - - SHH_000002 Alobar PubMed: Dubourg et al. 2004 - - Germline - - - 0 - Aimee Paulussen
+/+ 1 c.38_45del r.(?) p.(Val13Alafs*48) deletion, small - pathogenic g.155604778_155604785del g.155812084_155812091del - - SHH_000003 Alobar PubMed: Nanni et al. 1999 - - Germline - - - 0 - Aimee Paulussen
-?/. - c.44C>G r.(?) p.(Ser15Trp) - - likely benign g.155604773G>C - SHH(NM_000193.3):c.44C>G (p.S15W) - SHH_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.77C>T r.(?) p.(Pro26Leu) - - pathogenic g.155604740G>A - - - SHH_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.148_166del r.(?) p.(Asn50Ter) - - pathogenic g.155604654_155604672del g.155811960_155811978del - - SHH_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.183G>T r.(?) p.(Arg61Ser) - - VUS g.155604634C>A g.155811940C>A - - SHH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.213G>A r.(?) p.(Glu71=) - - likely benign g.155604604C>T g.155811910C>T SHH(NM_000193.3):c.213G>A (p.E71=) - SHH_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.229dup r.(?) p.(Thr77AsnfsTer11) - - pathogenic g.155604588dup g.155811894dup - - SHH_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.300+17G>A r.(=) p.(=) - - benign g.155604500C>T g.155811806C>T SHH(NM_000193.3):c.300+17G>A - SHH_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.301-17T>A r.(=) p.(=) - - benign g.155599268A>T g.155806574A>T SHH(NM_000193.3):c.301-17T>A - SHH_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.304T>C r.(?) p.(Cys102Arg) - - pathogenic g.155599248A>G g.155806554A>G - - SHH_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 2 c.349_350dup r.(349_350dup) p.Trp117Cysfs*5 duplication, small - pathogenic g.155599203_155599204dup g.155806509_155806510dup - - SHH_000038 - PubMed: Liu 2020, Journal: Liu 2020 - - Germline ? 1/80 patients - - - Patrice Bouvagnet
+/. - c.415_416del r.(?) p.(Leu139AlafsTer13) - - pathogenic g.155599139_155599140del g.155806445_155806446del - - SHH_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.430C>G r.(?) p.(Arg144Gly) - - likely pathogenic g.155599122G>C - - - SHH_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.437T>G r.(?) p.(Val146Gly) - - likely pathogenic g.155599115A>C g.155806421A>C - - SHH_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.485C>T r.(?) p.(Ala162Val) - - likely pathogenic g.155599067G>A g.155806373G>A - - SHH_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.487C>T r.(?) p.(Arg163Cys) - - VUS g.155599065G>A - - - SHH_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.542T>C r.(?) p.(Ile181Thr) - - VUS g.155599010A>G - SHH(NM_000193.3):c.542T>C (p.I181T) - SHH_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.551C>T r.(?) p.(Ser184Leu) - - VUS g.155599001G>A - SHH(NM_000193.3):c.551C>T (p.S184L) - SHH_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.570G>A r.(?) p.(Ser190=) - - benign g.155596413C>T g.155803719C>T SHH(NM_000193.3):c.570G>A (p.S190=) - SHH_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.570G>A r.(?) p.(Ser190=) - - benign g.155596413C>T g.155803719C>T SHH(NM_000193.3):c.570G>A (p.S190=) - SHH_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.630C>T r.(?) p.(Gly210=) - - benign g.155596353G>A g.155803659G>A SHH(NM_000193.3):c.630C>T (p.G210=) - SHH_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.676G>A r.(?) p.(Ala226Thr) - - pathogenic g.155596307C>T g.155803613C>T - - SHH_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.682G>A r.(?) p.(Asp228Asn) - - likely pathogenic g.155596301C>T g.155803607C>T - - SHH_000048 - PubMed: Huang 2015 - - Germline - - - 0 - LOVD
+/. - c.708C>A r.(?) p.(Ser236Arg) - - pathogenic g.155596275G>T g.155803581G>T - - SHH_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.828G>T r.(?) p.(Pro276=) - - benign g.155596155C>A g.155803461C>A SHH(NM_000193.3):c.828G>T (p.P276=) - SHH_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.840G>A r.(?) p.(Ser280=) - - likely benign g.155596143C>T g.155803449C>T SHH(NM_000193.3):c.840G>A (p.S280=) - SHH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.869G>A r.(?) p.(Gly290Asp) - - VUS g.155596114C>T g.155803420C>T SHH(NM_000193.3):c.869G>A (p.G290D), SHH(NM_000193.4):c.869G>A (p.G290D) - SHH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.869G>A r.(?) p.(Gly290Asp) - - likely benign g.155596114C>T g.155803420C>T SHH(NM_000193.3):c.869G>A (p.G290D), SHH(NM_000193.4):c.869G>A (p.G290D) - SHH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.869G>A r.(?) p.(Gly290Asp) - - likely benign g.155596114C>T g.155803420C>T SHH(NM_000193.3):c.869G>A (p.G290D), SHH(NM_000193.4):c.869G>A (p.G290D) - SHH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.869G>A r.(?) p.(Gly290Asp) - - benign g.155596114C>T g.155803420C>T SHH(NM_000193.3):c.869G>A (p.G290D), SHH(NM_000193.4):c.869G>A (p.G290D) - SHH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.869G>A r.(?) p.(Gly290Asp) - - likely benign g.155596114C>T g.155803420C>T SHH(NM_000193.3):c.869G>A (p.G290D), SHH(NM_000193.4):c.869G>A (p.G290D) - SHH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.869G>A r.(?) p.(Gly290Asp) - - likely benign g.155596114C>T g.155803420C>T - - SHH_000007 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.024 - 0 - Global Variome, with Curator vacancy
-?/. - c.876G>A r.(?) p.(Gly292=) - - likely benign g.155596107C>T - SHH(NM_000193.3):c.876G>A (p.G292=) - SHH_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.879G>A r.(?) p.(Pro293=) - - likely benign g.155596104C>T - SHH(NM_000193.3):c.879G>A (p.P293=) - SHH_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.897G>C r.(?) p.(Leu299=) - - likely benign g.155596086C>G g.155803392C>G - - SHH_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.900del r.(?) p.(Pro301Leufs*35) - - likely pathogenic g.155596086del - - - SHH_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.937C>T r.(?) p.(Gln313Ter) - - pathogenic g.155596046G>A g.155803352G>A - - SHH_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1023C>T r.(?) p.(Ala341=) - - VUS g.155595960G>A g.155803266G>A - - SHH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1037C>T r.(?) p.(Ala346Val) - - pathogenic g.155595946G>A g.155803252G>A - - SHH_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1055G>T r.(?) p.(Gly352Val) - - likely pathogenic g.155595928C>A g.155803234C>A - - SHH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1071C>A r.(?) p.(Asn357Lys) - - pathogenic g.155595912G>T g.155803218G>T - - SHH_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1082C>T r.(?) p.(Ala361Val) - - likely benign g.155595901G>A g.155803207G>A SHH(NM_000193.3):c.1082C>T (p.A361V) - SHH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1100T>A r.(?) p.(Ile367Asn) - - VUS g.155595883A>T - - - SHH_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1145T>C r.(?) p.(Leu382Pro) - - likely pathogenic g.155595838A>G g.155803144A>G - - SHH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1178C>G r.(?) p.(Ala393Gly) - - likely benign g.155595805G>C g.155803111G>C SHH(NM_000193.2):c.1178C>G (p.(Ala393Gly)) - SHH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1181G>A r.(?) p.(Arg394His) - - likely benign g.155595802C>T - SHH(NM_000193.3):c.1181G>A (p.R394H) - SHH_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1185_1188del r.(?) p.(Asp396AlafsTer17) - - pathogenic g.155595797_155595800del g.155803103_155803106del SHH(NM_000193.3):c.1185_1188delGGAC (p.D396Afs*17) - SHH_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1302G>A r.(?) p.(Trp434*) - - likely pathogenic (dominant) g.155595681C>T - - - SHH_000054 - - - - De novo - - - - - Alejandro Brea-Fernández
?/. - c.*2692C>G r.(=) p.(=) - - VUS g.155592902G>C - SHH(NM_001310462.1):c.339C>G (p.Y113*) - SHH_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*2759G>A r.(=) p.(=) - - likely benign g.155592835C>T g.155800141C>T SHH(NM_001310462.1):c.406G>A (p.G136R) - SHH_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*2796T>G r.(=) p.(=) - - VUS g.155592798A>C - SHH(NM_001310462.1):c.443T>G (p.L148W) - SHH_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*2824C>A r.(=) p.(=) - - VUS g.155592770G>T - SHH(NM_001310462.2):c.471C>A (p.C157*) - SHH_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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