Full data view for gene AMH

Information The variants shown are described using the NM_000479.3 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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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     
?/. 1 c.-2C>T r.(-2c>u) p.(Met1ext-1) Unknown - VUS g.2249330C>T g.2249331C>T - - AMH_000006 - - - - De novo - - - - - DNA SEQ-NG blood - OPLL - - - - - China Han - - - - 1 Xiaochen Qu
?/. - c.4C>T r.(?) p.(Arg2Trp) Unknown - VUS g.2249335C>T - AMH(NM_000479.4):c.4C>T (p.R2W) - JSRP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.35T>G r.(?) p.(Val12Gly) Unknown - VUS g.2249366T>G - AMH(NM_000479.3):c.35T>G (p.(Val12Gly)), AMH(NM_000479.4):c.35T>G (p.V12G) - JSRP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.35T>G r.(?) p.(Val12Gly) Unknown - likely benign g.2249366T>G - AMH(NM_000479.3):c.35T>G (p.(Val12Gly)), AMH(NM_000479.4):c.35T>G (p.V12G) - JSRP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.73C>T r.(?) p.(Leu25Phe) Unknown - likely benign g.2249404C>T g.2249405C>T AMH(NM_000479.4):c.73C>T (p.L25F) - AMH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.146G>T r.(?) p.(Ser49Ile) Unknown - benign g.2249477G>T g.2249478G>T AMH(NM_000479.4):c.146G>T (p.S49I), AMH(NM_000479.5):c.146G>T (p.S49I) - AMH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.146G>T r.(?) p.(Ser49Ile) Unknown - benign g.2249477G>T g.2249478G>T AMH(NM_000479.4):c.146G>T (p.S49I), AMH(NM_000479.5):c.146G>T (p.S49I) - AMH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.146G>T r.(?) p.(Ser49Ile) Unknown - benign g.2249477G>T g.2249478G>T AMH(NM_000479.4):c.146G>T (p.S49I), AMH(NM_000479.5):c.146G>T (p.S49I) - AMH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.208dup r.(?) p.(Leu70ProfsTer11) Unknown - pathogenic g.2249539dup g.2249540dup AMH(NM_000479.4):c.208dupC (p.L70Pfs*11) - AMH_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.252G>A r.(?) p.(Leu84=) Unknown - benign g.2249583G>A g.2249584G>A AMH(NM_000479.4):c.252G>A (p.L84=) - AMH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.268del r.(?) p.(Ala90Profs*49) Unknown - pathogenic g.2249599del - AMH(NM_000479.5):c.268delG (p.A90Pfs*49) - JSRP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.283C>T r.(?) p.(Arg95*) Unknown - pathogenic g.2249614C>T - AMH(NM_000479.5):c.283C>T (p.R95*) - JSRP1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.303G>A r.(?) p.(Gly101=) Unknown - benign g.2249634G>A g.2249635G>A AMH(NM_000479.4):c.303G>A (p.G101=) - AMH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.451C>T r.(?) p.(Pro151Ser) Unknown - VUS g.2250374C>T g.2250375C>T AMH(NM_000479.4):c.451C>T (p.P151S) - JSRP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.555+1G>T r.spl? p.? Unknown - pathogenic g.2250479G>T - - - JSRP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.555+6dup r.(=) p.(=) Unknown - VUS g.2250484dup g.2250485dup AMH(NM_000479.3):c.555+5_555+6insA (p.?), AMH(NM_000479.4):c.555+6dupA - AMH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.555+6dup r.(=) p.(=) Unknown - likely benign g.2250484dup g.2250485dup AMH(NM_000479.3):c.555+5_555+6insA (p.?), AMH(NM_000479.4):c.555+6dupA - AMH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.564C>A r.(?) p.(Cys188*) Unknown - pathogenic g.2250659C>A - AMH(NM_000479.4):c.564C>A (p.C188*) - JSRP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.564C>A r.(?) p.(Cys188*) Unknown - pathogenic g.2250659C>A - AMH(NM_000479.4):c.564C>A (p.C188*) - JSRP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.575A>G r.(?) p.(Asp192Gly) Unknown - likely pathogenic g.2250670A>G - - - AMH_000022 - - - rs764521397 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.701_702insCA r.(?) p.(Phe235SerfsTer12) Unknown - pathogenic g.2250884_2250885insCA g.2250885_2250886insCA AMH(NM_000479.4):c.701_702insCA (p.F235Sfs*12) - JSRP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.864C>G r.(?) p.(Asp288Glu) Unknown - VUS g.2251137C>G - AMH(NM_000479.4):c.864C>G (p.D288E), AMH(NM_000479.5):c.864C>G (p.D288E) - JSRP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.864C>G r.(?) p.(Asp288Glu) Unknown - VUS g.2251137C>G - AMH(NM_000479.4):c.864C>G (p.D288E), AMH(NM_000479.5):c.864C>G (p.D288E) - JSRP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.905G>A r.(?) p.(Arg302Gln) Unknown - likely pathogenic g.2251178G>A - AMH(NM_000479.4):c.905G>A (p.R302Q) - JSRP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.909C>A r.909c>a p.(Val303=) Unknown - VUS g.2251182C>A g.2251183C>A - - AMH_000005 - - - - De novo - - - - - DNA SEQ-NG blood - OPLL - - - - - China han - - - - 1 Xiaochen Qu
-?/. - c.967T>C r.(?) p.(Phe323Leu) Unknown - likely benign g.2251240T>C - AMH(NM_000479.4):c.967T>C (p.F323L) - JSRP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1012C>T r.(?) p.(Arg338Cys) Unknown - VUS g.2251285C>T - AMH(NM_000479.5):c.1012C>T (p.R338C) - JSRP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1016T>C r.(?) p.(Leu339Pro) Unknown - likely pathogenic g.2251289T>C - - - JSRP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1054C>T r.(?) p.(Pro352Ser) Unknown - likely benign g.2251327C>T g.2251328C>T AMH(NM_000479.4):c.1054C>T (p.P352S) - AMH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1112G>A r.(?) p.(Trp371*) Paternal (confirmed) - pathogenic g.2251385G>A g.2251386G>A - 46,XY AMH_000020 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat270 PubMed: Eggers 2016 - M - - - - - - - 1 Johan den Dunnen
+/. - c.1113G>A r.(?) p.(Trp371Ter) Unknown - pathogenic g.2251386G>A g.2251387G>A AMH(NM_000479.5):c.1113G>A (p.W371*) - JSRP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1239T>A r.(?) p.(Gly413=) Unknown - benign g.2251512T>A g.2251513T>A AMH(NM_000479.4):c.1239T>A (p.G413=), AMH(NM_000479.5):c.1239T>A (p.G413=) - AMH_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1239T>A r.(?) p.(Gly413=) Unknown - benign g.2251512T>A g.2251513T>A AMH(NM_000479.4):c.1239T>A (p.G413=), AMH(NM_000479.5):c.1239T>A (p.G413=) - AMH_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1239T>A r.(?) p.(Gly413=) Unknown - benign g.2251512T>A g.2251513T>A AMH(NM_000479.4):c.1239T>A (p.G413=), AMH(NM_000479.5):c.1239T>A (p.G413=) - AMH_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1463G>A r.(?) p.(Cys488Tyr) Unknown - VUS g.2251736G>A g.2251737G>A AMH(NM_000479.4):c.1463G>A (p.C488Y) - AMH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 5 c.1474T>C r.(?) p.(Cys492Arg) Parent #1 - VUS g.2251747T>C g.2251748T>C - - AMH_000001 - - - - Unknown - - - - - DNA SEQ - - PMDS - - - M no Hong Kong Chinese - - - - 1 Angel Chan
+/. - c.1518C>G r.(?) p.(His506Gln) Maternal (confirmed) - pathogenic g.2251791C>G g.2251792C>G - 46,XY AMH_000021 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat270 PubMed: Eggers 2016 - M - - - - - - - 1 Johan den Dunnen
-/. - c.1544= r.(=) p.(Ala515=) Unknown - benign g.2251817T>C g.2251818T>C AMH(NM_000479.4):c.1544T>C (p.V515A), AMH(NM_000479.5):c.1544T>C (p.V515A) - AMH_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1544= r.(=) p.(Ala515=) Unknown - benign g.2251817T>C g.2251818T>C AMH(NM_000479.4):c.1544T>C (p.V515A), AMH(NM_000479.5):c.1544T>C (p.V515A) - AMH_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1556C>T r.(?) p.(Ala519Val) Unknown - likely benign g.2251829C>T g.2251830C>T AMH(NM_000479.4):c.1556C>T (p.A519V) - AMH_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1556C>T r.(?) p.(Ala519Val) Unknown - likely benign g.2251829C>T - AMH(NM_000479.4):c.1556C>T (p.A519V) - AMH_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 5 c.1636G>A r.(?) p.(Ala546Thr) Unknown - VUS g.2251909G>A g.2251910G>A - - AMH_000002 - - - - Unknown - - - - - DNA SEQ - - PMDS - - - M no Hong Kong Chinese - - - - 1 Angel Chan
?/? 5 c.1639C>G r.(?) p.(His547Asp) Unknown - VUS g.2251912C>G g.2251913C>G - - AMH_000003 - - - - Unknown - - - - - DNA SEQ - - PMDS - - - M no Hong Kong Chinese - - - - 1 Angel Chan
?/. - c.1657G>T r.(?) p.(Val553Leu) Unknown - VUS g.2251930G>T g.2251931G>T AMH(NM_000479.4):c.1657G>T (p.V553L) - AMH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1818G>A r.(=) p.(=) Unknown - VUS g.2253774G>A g.2253775G>A JSRP1(NM_144616.3):c.281C>T (p.(Ala94Val)) - JSRP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1821G>A r.(=) p.(=) Unknown - VUS g.2253777G>A - JSRP1(NM_144616.3):c.278C>T (p.(Pro93Leu)) - JSRP1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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