Full data view for gene AMY2B

All AMY gene CNV haplotypes have been linked to the AMY2B gene.
Information The variants shown are described using the NM_020978.4 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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_12_ c.?ins(?_-1)_(*1_?)inv AMY-2-2-2, AH4B2 ((2B/2Bi-2A-1A)[2]-0-0-0) r.? p.? Parent #1 - VUS g.[(104208000_104200000)ins[(?_104103000)_(104137000_?)inv];(?_104137000)_(104216600_?_?)dup;(?_104216000_104307000_?_?)del] - - - AMY2B_022200 reference haplotype AH4B2, duplicated copy AMY2B-AMY1A region (AMY2B gene inverted) and deleted copy AMY1B-AMY1C region PubMed: Usher 2015, Journal: Usher 2015 - - Germline - 0.02 - - - DNA FISH, PCR - - - - PubMed: Usher 2015, Journal: Usher 2015 reference haplotype - - - European - - - - 1 Johan den Dunnen
?/. - c.-27617A>T - r.(?) p.(=) Unknown - VUS g.104070321A>T - RNPC3(NM_017619.3):c.197A>T (p.(His66Leu)) - RNPC3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-21559C>T - r.(?) p.(=) Unknown - pathogenic g.104076379C>T g.103533757C>T RNPC3(NM_017619.4):c.259C>T (p.Q87*) - RNPC3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-21476C>T - r.(?) p.(=) Unknown - benign g.104076462C>T - RNPC3(NM_017619.4):c.342C>T (p.G114=) - RNPC3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-21443A>G - r.(?) p.(=) Unknown - benign g.104076495A>G - RNPC3(NM_017619.4):c.359+16A>G - RNPC3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-19867G>C - r.(?) p.(=) Unknown - likely benign g.104078071G>C - RNPC3(NM_017619.4):c.555+8G>C - RNPC3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-17911C>T - r.(?) p.(=) Unknown - VUS g.104080027C>T - RNPC3(NM_017619.3):c.688C>T (p.(Pro230Ser)) - RNPC3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-17881T>G - r.(?) p.(=) Unknown - likely benign g.104080057T>G - RNPC3(NM_017619.3):c.718T>G (p.(Ser240Ala)) - RNPC3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-17880C>G - r.(?) p.(=) Unknown - VUS g.104080058C>G - RNPC3(NM_017619.3):c.719C>G (p.(Ser240Cys)) - RNPC3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-11965G>C - r.(?) p.(=) Unknown - VUS g.104085973G>C g.103543351G>C RNPC3(NM_017619.3):c.949G>C (p.(Gly317Arg)) - RNPC3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-11890A>C - r.(?) p.(=) Unknown - likely benign g.104086048A>C g.103543426A>C RNPC3(NM_017619.3):c.1024A>C (p.(Asn342His)), RNPC3(NM_017619.4):c.1024A>C (p.N342H) - RNPC3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-11890A>C - r.(?) p.(=) Unknown - likely benign g.104086048A>C g.103543426A>C RNPC3(NM_017619.3):c.1024A>C (p.(Asn342His)), RNPC3(NM_017619.4):c.1024A>C (p.N342H) - RNPC3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-11889A>C - r.(?) p.(=) Unknown - likely benign g.104086049A>C g.103543427A>C RNPC3(NM_017619.3):c.1025A>C (p.(Asn342Thr)), RNPC3(NM_017619.4):c.1025A>C (p.N342T) - RNPC3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-11889A>C - r.(?) p.(=) Unknown - likely benign g.104086049A>C g.103543427A>C RNPC3(NM_017619.3):c.1025A>C (p.(Asn342Thr)), RNPC3(NM_017619.4):c.1025A>C (p.N342T) - RNPC3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-8314A>G - r.(?) p.(=) Unknown - likely pathogenic g.104089624A>G - - - RNPC3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4367T>C - r.(?) p.(=) Unknown - VUS g.104093571T>C g.103550949T>C RNPC3(NM_017619.3):c.1370T>C (p.(Ile457Thr)) - RNPC3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. _1_12_ c.(?_-1)_(*1_?)dup AMY-4-2-2, AH4B2 ((2B-2A-1A)[2]-1Bi-P1-1C) r.? p.? Parent #1 - likely pathogenic g.(?_104103000)_(104220000_?)dup - - - AMY2B_022211 reference haplotype AH4B2, duplicated copy AMY2B-AMY1A region PubMed: Usher 2015, Journal: Usher 2015 - - Germline - 0.04 - - - DNA FISH, PCR - - - - PubMed: Usher 2015, Journal: Usher 2015 reference haplotype - - - European - - - - 1 Johan den Dunnen
?/. _1_12_ c.(?_-1)_(*1_?)dup AMY-4-2-2, ((2B-2A-1)[2]-1Bi-P1-1C) r.? p.? Parent #1 - VUS g.104103724_104219543dup - - - AMY2B_022211 116 kb duplication AMY2B-AMY2A-AMY1A region PubMed: Carpenter 2015, Journal: Carpenter 2015 - - Germline - - - - - DNA FISHf, PCR, SEQ-NG - - - - PubMed: Carpenter 2015, Journal: Carpenter 2015 - - - - - - - - - 1 Johan den Dunnen
+?/. _1_12_ c.(?_-1)_(*1_?)dup AMY-2-2-2, ((2B-2A-1A)-(2B-2A)-1C) r.? p.? Parent #2 - VUS g.(104219543_104262492)delins(104103733_104168400) - - - AMY2B_022101 allele with AMY2B-AMY2A duplication, replacing AMY1B-AMYP1 region Shwan, submitted - - Germline - - - - - DNA FISHf, PCR, SEQ-NG - - Healthy/Control - Shwan, submitted - - - - European - - - - 1 John Armour
+?/. _1_12_ c.(?_-1)_(*1_?)dup AMY-2.5-2.5-2, (2B-2A-1-(2B-2A)-(1+2A)-1) r.= p.= Maternal (confirmed) - likely pathogenic g.[104219543_104262492delins104103733_104200568;104153629_104168400] - - - AMY2B_023201 - Shwan, submitted - - Germline - - - - - DNA FISHf, PCR, SEQ-NG - - - - Shwan, submitted - - - - Africa, Yoruban - - - - 1 John Armour
-/. _1_12_ c.(?_-1)_(*1_?)[3] AMY-3-3-3, (2B-(2A-1A)i-(2B-2A-1A)-(2B-2A-1C)) r.= p.= Maternal (confirmed) - likely benign g.[(104153400_104211327)inv; (104219543_104219544)ins(104103733_104219543); (104219544_104262492)delins(104103733_104168400)] - - - AMY2B_033201 triplication allele with inverted AMY2A-AMY1A copy followed by two repeats of (AMY2B-AMY2A-AMY1) copies Shwan, submitted - - Germline - - - - - DNA FISHf, PCR, SEQ-NG - - - - Shwan, submitted - - - - Africa, Yoruban - - - - 1 John Armour
+?/. _1_12_ c.(?_-1)_(*1_?)[4] AMY-4-4-4, (2B-(2A-1A)i-(2B-2A-1A)[2]-(2B-2A)-1C) r.? p.? Paternal (confirmed) - likely pathogenic g.[(104153400_104211327)inv; (104219543_104219544)ins(104103733_104219543[2]); (104219544_104262492)delins(104103733_104168400)] - - - AMY2B_044301 quadruplication allele with inverted AMY2A-AMY1A copy followed by two AMY2B-AMY2A-AMY1A copies and one AMY2B-AMY2A-AMY1C copy Shwan, submitted - - Germline - - - - - DNA FISHf, PCR, SEQ-NG - - - - Shwan, submitted - - - - Africa, Yoruban - - - - 1 John Armour
+?/. _1_12_ c.(?_-1)_(*1_?)[5] AMY-5-5-5, (2B-(2A-1A)i-(2B-2A-1A)[3]-(2B-2A)-1C) r.? p.? Parent #2 - likely pathogenic g.[(104153400_104211327)inv; (104219543_104219544)ins(104103733_104219543[3]); (104219544_104262492)delins(104103733_104168400)] - - - AMY2B_055401 quintuplication allele with inverted AMY2A-AMY1A copy followed by three AMY2B-AMY2A-AMY1A and one AMY2B-AMY2A-AMY1C copies Shwan, submitted - - Germline - - - - - DNA FISHf, PCR, SEQ-NG - - - - Shwan, submitted - - - - Africa, Yoruban - - - - 1 John Armour
-/. _1_12_ c.= AMY-3-1-1, AH3 (2B-2A-1A-1Bi-P1-1C) r.= p.= Parent #1 - benign g.104103000_104307000= g.103560378_103764378= - - AMY2B_011111 reference genome haplotype AH3 consisting of AMY2B, AMY2A, AMY1A, AMY1B (inverted), AMYP1 (pseudogene), AMY1C PubMed: Usher 2015, Journal: Usher 2015 - - Germline - 0.40 - - - DNA FISH, PCRq - - - - PubMed: Usher 2015, Journal: Usher 2015 reference haplotype - - - European - - - - 1 Johan den Dunnen
?/. _1_12_ c.= AMY-5-1-1, AH5 (2B-2A-(1A-1Bi-P1)[2]-1C), H2 r.= p.= Parent #1 - VUS g.104162309_104256477dup g.103619687_103713855dup - - AMY2B_011122 reference haplotype AH5, duplicated copy AMY1B-AMY1C region named H2 by Groot 1990 PubMed: Usher 2015, Journal: Usher 2015 - - Germline - 0.23 - - - DNA FISH, PCR - - - - PubMed: Usher 2015, Journal: Usher 2015 reference haplotype - - - European - - - - 1 Johan den Dunnen
?/. _1_12_ c.= AMY-7-1-1, AH7 (2B-2A-(1A-1Bi-P1)[3]-1C) r.= p.= Parent #1 - VUS g.104161939_104256107[3] - - - AMY2B_011133 reference haplotype AH7, triplicated copy AMY1A-AMY1B region PubMed: Usher 2015, Journal: Usher 2015 - - Germline - 0.10 - - - DNA FISH, PCR - - - - PubMed: Usher 2015, Journal: Usher 2015 reference haplotype - - - European - - - - 1 Johan den Dunnen
?/. _1_12_ c.= AMY-2-0-1, AH2 (2B-0-0-1Bi-P1-1C) r.= p.= Parent #1 - VUS g.(?_104137000)_(104216600_?)del - - - AMY2B_010011 reference haplotype AH2, deleted copy AMY2A-AMY1A region PubMed: Usher 2015, Journal: Usher 2015 - - Germline - 0.04 - - - DNA FISH, PCR - - - - PubMed: Usher 2015, Journal: Usher 2015 reference haplotype - - - European - - - - 1 Johan den Dunnen
?/. _1_12_ c.= AMY-4-2-1, AH4 (2B-(2A-1A)[2]-1Bi-P1-1C) r.= p.= Parent #1 - VUS g.(?_104137000)_(104216600_?)dup - - - AMY2B_012211 reference haplotype AH4, duplicated copy AMY2A-AMY1A region PubMed: Usher 2015, Journal: Usher 2015 - - Germline - 0.01 - - - DNA FISH, PCR - - - - PubMed: Usher 2015, Journal: Usher 2015 reference haplotype - - - European - - - - 1 Johan den Dunnen
?/. _1_12_ c.= AMY-1-1-1, AH1 (2B-2A-1A-0-0-0) r.= p.= Parent #1 - VUS g.(?_104216000)_(104307000_?)del - - - AMY2B_011100 reference haplotype AH1, deleted copy AMY1B-AMY1C region; presumed ancestral allele PubMed: Usher 2015, Journal: Usher 2015 - - Germline - 0.16 - - - DNA FISH, PCR - - - - PubMed: Usher 2015, Journal: Usher 2015 reference haplotype - - - European - - - - 1 Johan den Dunnen
-/. _1_12_ c.= AMY-2-0-1, (2B-0-0-1i-P1-1) r.= p.= Both (homozygous) - pathogenic g.[104153701_104161396del;104161926_104226715del] - 104161926_104226715del - AMY2B_010011 75 kb deletion AMY2A-AMY1A region PubMed: Carpenter 2015, Journal: Carpenter 2015 - - Germline - - - - - DNA FISHf, PCR, SEQ-NG - - Healthy/Control - PubMed: Carpenter 2015, Journal: Carpenter 2015 - - - - European - - - - 1 Johan den Dunnen
-/. _1_12_ c.= AMY-5-1-1, AH5 (2B-2A-(1A-1Bi-P1)[2]-1C), H2 r.= p.= Parent #1 - VUS g.104162309_104256477dup g.103619687_103713855dup - - AMY2B_011122 haplotype with duplicated copy AMY1A-AMY1B region, named H2 by Groot 1990 and AH5 by Usher et al PubMed: Carpenter 2015, Journal: Carpenter 2015 - - Germline - - - - - DNA FISHf, PCR, SEQ-NG - - - - PubMed: Carpenter 2015, Journal: Carpenter 2015 - - - Japan - - - - - 1 Johan den Dunnen
-/. _1_12_ c.= AMY-13-1-1, AH13 (2B-2A-(1A-1Bi-P1)[6]-1C) r.= p.= Parent #2 - likely pathogenic g.104161939_104256107[6] - - - AMY2B_011166 haplotype with 6 copies of AMY1A-AMY1B region and 13 copies of AMY1 PubMed: Carpenter 2015, Journal: Carpenter 2015 - - Germline - - - - - DNA FISHf, PCR, SEQ-NG - - - - PubMed: Carpenter 2015, Journal: Carpenter 2015 - - - Japan - - - - - 1 Johan den Dunnen
-?/. _1_12_ c.= AMY-1-1-1, AH1 (2B-2A-1-0-0-0) r.= p.= Parent #1 - likely benign g.104103000_104307000= g.103560378_103764378= - - AMY2B_011111 - PubMed: Carpenter 2015, Journal: Carpenter 2015 - - Germline - - - - - DNA FISHf, PCR, SEQ-NG - - - - PubMed: Carpenter 2015, Journal: Carpenter 2015 - - - - - - - - - 1 Johan den Dunnen
-/. _1_12_ c.= AMY-7-1-1, AH7 (2B-2A-(1A-1Bi-P1)[3]-1C) r.= p.= Parent #2 - VUS g.104161939_104256107[3] - - - AMY2B_011133 haplotype with 3 copies of AMY1A-AMY1B region and 7 copies of AMY1 PubMed: Carpenter 2015, Journal: Carpenter 2015 - - Germline - - - - - DNA FISHf, PCR, SEQ-NG - - - - PubMed: Carpenter 2015, Journal: Carpenter 2015 - - - - - - - - - 1 Johan den Dunnen
-/. _1_12_ c.= AMY-3-1-1, (2B-2A-1-1i-P1-1) r.= p.= Parent #1 - benign g.104103000_104307000= g.103560378_103764378= - - AMY2B_011111 - Shwan, submitted - - Germline - - - - - DNA FISHf, PCR, SEQ-NG - - Healthy/Control - Shwan, submitted - - - - European - - - - 1 John Armour
-/. _1_12_ c.= AMY-3-1-1, (2B-2A-1-1i-P1-1) r.= p.= Maternal (confirmed) - benign g.104103000_104307000= g.103560378_103764378= - - AMY2B_011111 - Shwan, submitted - - Germline - - - - - DNA FISHf, PCR, SEQ-NG - - - - Shwan, submitted - - - - Africa, Yoruban - - - - 1 John Armour
-/. _1_12_ c.= AMY-3-1-1, (2B-2A-1-1i-P1-1) r.= p.= Parent #1 - benign g.104103000_104307000= g.103560378_103764378= - - AMY2B_011111 - Shwan, submitted - - Germline - - - - - DNA FISHf, PCR, SEQ-NG - - - - Shwan, submitted - - - - Africa, Yoruban - - - - 1 John Armour
-/. _1_12_ c.= AMY-4-2-1, (2B-2A-1-(2A-1A)i-1i-P1-1) r.= p.= Parent #1 - benign g.(104229645_104229646)ins(104135020_1042219543)inv - - - AMY2B_012211 allele with inverted duplication of AMY2A-AMY1A region between AMY1A and AMY1B Shwan, submitted - - Germline - - - - - DNA FISHf, PCR, SEQ-NG - - - - Shwan, submitted father of NA19120 - - - Africa, Yoruban - - - - 1 John Armour
-/. _1_12_ c.= AMY-8-2-1, (2B-2A-1A-1Bi-P1-1A-2A-(1A-1Bi-P1)[2]-1) r.= p.= Parent #2 - likely pathogenic g.[104262492_104262493ins104168400_104211327;10415020_104262492;104168400_104262492] - - - AMY2B_012341 complex allele with, between AMYP1 and AMY1C, insertion of AMY1-AMY2A-(AMY1A-AMY1B-AMYP1[2]) Shwan, submitted - - Germline - - - - - DNA FISHf, PCR, SEQ-NG - - - - Shwan, submitted father of NA19120 - - - Africa, Yoruban - - - - 1 John Armour
-/. _1_12_ c.= AMY-8-2-1, (2B-2A-1A-1Bi-P1-1A-2A-(1A-1Bi-P1)[2]-1C) r.= p.= Paternal (confirmed) - likely pathogenic g.[104262492_104262493ins104168400_104211327;10415020_104262492;104168400_104262492] - - - AMY2B_012341 complex allele with, between AMYP1 and AMY1C, insertion of AMY1-AMY2A-(AMY1A-AMY1B-AMYP1[2]) Shwan, submitted - - Germline - - - - - DNA FISHf, PCR, SEQ-NG - - - - Shwan, submitted - - - - Africa, Yoruban - - - - 1 John Armour
-/. _1_12_ c.= AMY-3-1-1, (2B-2A-1-1i-P1-1) r.= p.= Paternal (confirmed) - benign g.104103000_104307000= g.103560378_103764378= - - AMY2B_011111 - Shwan, submitted - - Germline - - - - - DNA FISHf, PCR, SEQ-NG - - - - Shwan, submitted - - - - Africa, Yoruban - - - - 1 John Armour
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