Unique variants in the ASS1 gene

Information The variants shown are described using the NM_000050.4 transcript reference sequence.

115 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
?/. 1 - c.-6+8C>T r.(=) p.(=) - VUS g.133325728C>T g.130450341C>T ASS1(NM_000050.4):c.-6+8C>T (p.(=)) - ASS1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.-5-13C>T r.(=) p.(=) - benign g.133327598C>T g.130452211C>T ASS1(NM_000050.4):c.-5-13C>T - ASS1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 2i c.-5-4C>T r.spl? p.? - pathogenic g.133327607C>T g.130452220C>T int0 -4C>T - ASS1_000055 described as nonsense variant PubMed: Engel 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 10i_12i c.(c.688+1_689-1)_(838+1_839-1)del r.689_838del p.? - pathogenic g.(133352349_133355102)_(133355837_133364719)del - - - ASS1_000008 - PubMed: Engel 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.40G>A r.(?) p.(Gly14Ser) - pathogenic g.133327655G>A g.130452268G>A - - ASS1_000056 - Kobayashi ASH1989 A201, {Kobayashi 1990}, OMIM:var0004 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.53C>T r.(?) p.(Ser18Leu) - pathogenic g.133327668C>T g.130452281C>T - - ASS1_000057 - PubMed: Kobayashi 1991, OMIM:var0011 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.55T>C r.(?) p.(Cys19Arg) - pathogenic g.133327670T>C g.130452283T>C - - ASS1_000058 - {Gao 2003} - - Germline - - - - - Johan den Dunnen
-/. 1 - c.99C>T r.(?) p.(Ala33=) - benign g.133327714C>T g.130452327C>T ASS1(NM_000050.4):c.99C>T (p.A33=) - ASS1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.106-10T>G r.(=) p.(=) - benign g.133329682T>G g.130454295T>G ASS1(NM_000050.4):c.106-10T>G - ASS1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 4 c.119A>T r.(?) p.(Gln40Leu) - pathogenic g.133329705A>T g.130454318A>T - - ASS1_000059 - {Haberle 2003} - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.132C>T r.(?) p.(Phe44=) - likely benign g.133329718C>T g.130454331C>T ASS1(NM_000050.4):c.132C>T (p.F44=) - ASS1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 4i c.174+1G>T r.spl p.? - pathogenic g.133329761G>T g.130454374G>T - - ASS1_000061 - {Kleijer 2006} - - Germline - - - - - Johan den Dunnen
+/. 1 4i_5i c.(174+1_175-1)_(363+1_364-1)del r.del p.del - pathogenic g.(133329761_133333787)_(133333977_133339497)del - ex5 del - ASS1_000062 3-4 Kb deletion Kobayashi ASH1989 A201, PubMed: Kobayashi 1995, OMIM:var0001 - - Germline - - - - - Johan den Dunnen
+/. 2 5 c.206T>C r.(?) p.(Val69Ala) - pathogenic g.133333819T>C g.130458432T>C - - ASS1_000063 - {Gao 2003}, {Vilaseca 2001} - - Germline - - - - - Johan den Dunnen
+/. 1 5 c.235T>C r.(?) p.(Ser79Pro) - pathogenic g.133333848T>C g.130458461T>C - - ASS1_000064 - PubMed: Engel 2009 - - Germline - - - - - Johan den Dunnen
+/. 2 5 c.256C>T r.(?) p.(Arg86Cys) - pathogenic g.133333869C>T g.130458482C>T - - ASS1_000065 - {Gao 2003}, PubMed: Kobayashi 1991, OMIM:var0012 - - Germline - - - - - Johan den Dunnen
+/. 2 5 c.257G>A r.(?) p.(Arg86His) - pathogenic g.133333870G>A g.130458483G>A - - ASS1_000066 - {Gao 2003} - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.282C>T r.(?) p.(Ala94=) - likely benign g.133333895C>T g.130458508C>T ASS1(NM_000050.4):c.282C>T (p.A94=) - ASS1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 5 c.285G>T r.(?) p.(Arg95Ser) - pathogenic g.133333898G>T g.130458511G>T - - ASS1_000067 - {Gao 2003} - - Germline - - - - - Johan den Dunnen
+/. 1 5 c.286C>T r.(?) p.(Pro96Ser) - pathogenic g.133333899C>T g.130458512C>T - - ASS1_000068 - {Gao 2003} - - Germline - - - - - Johan den Dunnen
+/. 1 5 c.287C>A r.(?) p.(Pro96His) - pathogenic g.133333900C>A g.130458513C>A - - ASS1_000069 - PubMed: Engel 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 5 c.299del r.(?) p.(Arg100Profs*40) - pathogenic g.133333912del g.130458525del - - ASS1_000070 - {Gao 2003} - - Germline - - - - - Johan den Dunnen
+/., -/., -?/., ?/. 5 5 c.323G>T r.(?) p.(Arg108Leu) - benign, likely benign, pathogenic, VUS g.133333936G>T g.130458549G>T ASS1(NM_000050.4):c.323G>T (p.R108L) - ASS1_000071 VKGL data sharing initiative Nederland PubMed: Haberle 2002, OMIM:var0014, {Vilaseca 2001} - - CLASSIFICATION record, Germline - - - - - Gerard C.P. Schaafsma, Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.333C>T r.(?) p.(Ala111=) - likely benign g.133333946C>T g.130458559C>T ASS1(NM_000050.4):c.333C>T (p.A111=) - ASS1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 4 5 c.349G>A r.(?) p.(Gly117Ser) - pathogenic g.133333962G>A g.130458575G>A - - ASS1_000073 - {Gao 2003} - - Germline - - - - - Johan den Dunnen
+/. 2 5 c.350G>A r.(?) p.(Gly117Asp) - pathogenic g.133333963G>A g.130458576G>A - - ASS1_000074 - {Gao 2003}, {Vilaseca 2001} - - Germline - - - - - Johan den Dunnen
-/. 1 4 c.351C>T r.(?) p.(=) - benign g.133333964C>T g.130458577C>T - - ASS1_000060 - PubMed: Engel 2009 - rs35772983 Germline - - - - - Johan den Dunnen
+/., ?/. 5 5 c.352G>A r.(?), r.352g>a p.(Ala118Thr), p.Ala118Thr - pathogenic, VUS g.133333965G>A g.130458578G>A ASS1(NM_000050.4):c.352G>A (p.A118T) - ASS1_000075 VKGL data sharing initiative Nederland {Berning in press}, {Gao 2003}, PubMed: Kobayashi 1994 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam
+/. 1 5 c.356C>T r.(?) p.(Thr119Ile) - pathogenic g.133333969C>T g.130458582C>T - - ASS1_000076 - {Vilaseca 2001} - - Germline - - - - - Johan den Dunnen
-?/., ?/. 2 - c.364-6T>C r.(=) p.(=) - likely benign, VUS g.133339492T>C g.130464105T>C ASS1(NM_000050.4):c.364-6T>C (, p.(=)) - ASS1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
+/. 1 5i_6i c.(363+1_364-1)_(420+1_421-1)del r.del p.del - pathogenic g.(133333977_133339497)_(133339555_133342111)del - ex6 del - ASS1_000077 2-3 Kb deletion Kobayashi ASH1989 A201, PubMed: Kobayashi 1995, OMIM:var0001 - - Germline - - - - - Johan den Dunnen
+/. 1 6 c.370G>A r.(?) p.(Asp124Asn) - pathogenic g.133339504G>A g.130464117G>A - - ASS1_000078 - {Kleijer 2006} - - Germline - - - - - Johan den Dunnen
+/. 2 6 c.379C>T r.(?) p.(Arg127Trp) - pathogenic g.133339513C>T g.130464126C>T - - ASS1_000079 - PubMed: Engel 2009 - - Germline - - - - - Johan den Dunnen
+/. 3 6 c.380G>A r.(?) p.(Arg127Gln) - pathogenic, pathogenic (recessive) g.133339514G>A g.130464127G>A R127Q - ASS1_000080 - {Haberle 2003}, PubMed: Engel 2009, PubMed: Häberle and Koch 2004 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.421-19C>T r.(=) p.(=) - benign g.133342093C>T g.130466706C>T ASS1(NM_000050.4):c.421-19C>T - ASS1_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 11 6i c.421-2A>G r.421_495del, r.spl, r.spl? p.?, p.del, p.Val141_Lys165del - pathogenic g.133342110A>G g.130466723A>G ASS1(NM_000050.4):c.421-2A>G - ASS1_000081 patient chromosomes, VKGL data sharing initiative Nederland Kobayashi ASH1989 A201, PubMed: Kobayashi 1995, OMIM:var0003, PubMed: Kakinoki 1997, 1 more item - - CLASSIFICATION record, Germline - 19/33 MspI- - - Johan den Dunnen, VKGL-NL_Groningen
+?/. 1 - c.437G>A r.(?) p.(Arg146Lys) - likely pathogenic g.133342128G>A g.130466741G>A - - ASS1_000104 - - - - Germline yes - - - - Belen Perez
+/. 1 7 c.450_451del r.(?) p.(Phe150Leufs*9) - pathogenic g.133342141_133342142del g.130466754_130466755del c.450_451delCT - ASS1_000082 - PubMed: Engel 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 7 c.460_467del r.(?) p.(Phe154Profs*3) - pathogenic g.133342151_133342158del g.130466764_130466771del 459_466del - ASS1_000083 - PubMed: Engel 2009 - - Germline - - - - - Johan den Dunnen
+/. 2 7 c.469C>T r.(?) p.(Arg157Cys) - pathogenic g.133342160C>T g.130466773C>T - - ASS1_000084 - {Gao 2003} - - Germline - - - - - Johan den Dunnen
+/., ?/. 2 7 c.470G>A r.(?) p.(Arg157His) - pathogenic, VUS g.133342161G>A g.130466774G>A - - ASS1_000085 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) Kobayashi ASH1989 A201, {Kobayashi 1990}, OMIM:var0005, PubMed: Narang 2020, Journal: Narang 2020 - rs121908637 Germline - 1/2795 individuals - - - Johan den Dunnen, Mohammed Faruq
+/. 1 7 c.479T>C r.(?) p.(Leu160Pro) - pathogenic g.133342170T>C g.130466783T>C - - ASS1_000086 - PubMed: Engel 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 7i c.495+1G>T r.421_495del p.Val141_Lys165del - pathogenic g.133342187G>T g.130466800G>T - - ASS1_000087 - PubMed: Engel 2009 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.496-1766_597+732delinsGC r.496_597delinsGC p.? - VUS g.133344455_133345489delinsGC - - - ASS1_000105 1 more item - - - Germline - - - - - Belen Perez
+/. 2 7i_8 c.496-21_515del r.spl p.del - pathogenic g.133346200_133346240del g.130470813_130470853del - - ASS1_000088 - PubMed: Engel 2009 - - Germline - - - - - Johan den Dunnen
-/. 3 8 c.501C>T r.(?) p.(=), p.(His167=) - benign g.133346226C>T g.130470839C>T ASS1(NM_000050.4):c.501C>T (p.H167=), His167His - ASS1_000001 VKGL data sharing initiative Nederland PubMed: Engel 2009, PubMed: Mitchell 2009 - rs10901072 CLASSIFICATION record, Germline - 15/94 - - - Johan den Dunnen, VKGL-NL_AMC
+/. 10 8 c.535T>C r.(?) p.(Trp179Arg) - pathogenic g.133346260T>C g.130470873T>C - - ASS1_000089 sporadic, consanguineous parents {Berning in press}, {Gao 2003}, PubMed: Haberle 2002, OMIM:var0015 - - Germline - - - - - Johan den Dunnen
+/. 1 8 c.539G>A r.(?) p.(Ser180Asn) - pathogenic g.133346264G>A g.130470877G>A - - ASS1_000091 sporadic, consanguineous parents Kobayashi ASH1989 A201, {Kobayashi 1990}, OMIM:var0006 - - Germline - - - - - Johan den Dunnen
-/. 1 8 c.561C>T r.(?) p.(=) - benign g.133346286C>T g.130470899C>T - - ASS1_000100 - PubMed: Engel 2009 - rs2297599 Germline - - - - - Johan den Dunnen
-/. 2 8 c.564C>T r.(?) p.(=) - benign g.133346289C>T g.130470902C>T Ile188Ile - ASS1_000002 - PubMed: Mitchell 2009 - rs2297599 Germline - 1/94 - - - Johan den Dunnen
-?/. 1 - c.567-4G>A r.spl? p.? - likely benign g.133346868G>A - ASS1(NM_000050.4):c.567-4G>A - ASS1_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 8 c.568T>G r.(?) p.(Tyr190Asp) - pathogenic g.133346873T>G g.130471486T>G - - ASS1_000092 - {Sander 2003} - - Germline - - - - - Johan den Dunnen
+/. 3 9 c.571G>A r.(?) p.(Glu191Lys) - pathogenic, pathogenic (recessive) g.133346876G>A g.130471489G>A E191K - ASS1_000093 - {Gao 2003}, PubMed: Häberle and Koch 2004 - - Germline - - - - - Johan den Dunnen
+/. 1 9 c.571G>C r.(?) p.(Glu191Gln) - pathogenic g.133346876G>C g.130471489G>C - - ASS1_000094 - PubMed: Engel 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 9 c.575C>T r.575c>u p.Ala192Val - pathogenic g.133346880C>T g.130471493C>T - - ASS1_000095 - PubMed: Kobayashi 1994 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.597+8C>T r.(=) p.(=) - benign g.133346910C>T g.130471523C>T ASS1(NM_000050.4):c.597+8C>T - ASS1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 4 9i c.597+18A>G r.(=), r.(?) p.(=) - benign g.133346920A>G g.130471533A>G ASS1(NM_000050.4):c.597+18A>G - ASS1_000003 VKGL data sharing initiative Nederland PubMed: Mitchell 2009 - rs652313 CLASSIFICATION record, Germline - 17/94 - - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_AMC
+/. 1 10 c.605C>A r.(?) p.(Ala202Glu) - pathogenic g.133352265C>A g.130476878C>A - - ASS1_000006 - {Haberle 2003} - - Germline - - - - - Johan den Dunnen
+/. 1 10 c.617T>C r.(?) p.(Leu206Pro) - pathogenic g.133352277T>C g.130476890T>C - - ASS1_000007 - PubMed: Engel 2009 - - Germline - - - - - Johan den Dunnen
-/. 1 10 c.651C>A r.(?) p.(=) - benign g.133352311C>A g.130476924C>A - - ASS1_000096 - PubMed: Engel 2009 - rs11549769 Germline - - - - - Johan den Dunnen
-/. 1 - c.675C>T r.(?) p.(Ile225=) - benign g.133352335C>T g.130476948C>T ASS1(NM_000050.4):c.675C>T (p.I225=) - ASS1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.688+4T>C r.spl? p.? - benign g.133352352T>C g.130476965T>C ASS1(NM_000050.4):c.688+4T>C - ASS1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.765C>T r.(?) p.(Asn255=) - benign g.133355179C>T g.130479792C>T ASS1(NM_000050.4):c.765C>T (p.N255=) - ASS1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 11i c.773+1del r.spl p.? - pathogenic g.133355188del g.130479801del - - ASS1_000097 - PubMed: Engel 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 11i c.773+2dup r.spl p.? - pathogenic g.133355189dup g.130479802dup 773+2_773+3insT - ASS1_000098 - {Kleijer 2006} - - Germline - - - - - Johan den Dunnen
+/., +?/. 3 11i c.773+49C>T r.(=), r.773_774ins773+1_773+47 p.(=) - likely pathogenic, pathogenic g.133355236C>T g.130479849C>T - - ASS1_000099 VKGL data sharing initiative Nederland {Haberle 2003} - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+/., +?/. 3 12 c.787G>A r.(?) p.(Val263Met) - likely pathogenic, pathogenic g.133355785G>A g.130480398G>A ASS1(NM_000050.4):c.787G>A (p.V263M) - ASS1_000009 VKGL data sharing initiative Nederland {Sander 2003} - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam
+/. 3 12 c.793C>T r.(?) p.(Arg265Cys) - pathogenic g.133355791C>T g.130480404C>T - - ASS1_000010 2 heterozygous, no homozygous; Clinindb (India) PubMed: Engel 2009, PubMed: Narang 2020, Journal: Narang 2020 - rs148918985 Germline - 2/2795 individuals - - - Johan den Dunnen, Mohammed Faruq
+/., +?/. 4 12 c.794G>A r.(?) p.(Arg265His) - likely pathogenic, pathogenic g.133355792G>A g.130480405G>A - - ASS1_000011 1 heterozygous, no homozygous; Clinindb (India) {Gao 2003}, PubMed: Narang 2020, Journal: Narang 2020 - rs398123131 Germline - 1/2794 individuals - - - Johan den Dunnen, Mohammed Faruq
+/. 1 12 c.805G>A r.(?) p.(Val269Met) - pathogenic g.133355803G>A g.130480416G>A - - ASS1_000012 - {Gao 2003} - - Germline - - - - - Johan den Dunnen
+/. 2 12 c.808G>C r.(?) p.(Glu270Gln) - pathogenic g.133355806G>C g.130480419G>C - - ASS1_000013 - {Gao 2003}, {Vilaseca 2001} - - Germline - - - - - Johan den Dunnen
+/. 2 12 c.814C>T r.(?), r.814c>u p.(Arg272Cys), p.Arg272Cys - pathogenic g.133355812C>T g.130480425C>T - - ASS1_000014 - {Gao 2003}, PubMed: Kobayashi 1994 - - Germline - - - - - Johan den Dunnen
+/. 2 12 c.823G>T r.(?) p.(Gly275*) - pathogenic g.133355821G>T g.130480434G>T - - ASS1_000015 - {Kleijer 2006} - - Germline - - - - - Johan den Dunnen
+/. 1 12 c.830A>C r.(?) p.(Lys277Thr) - pathogenic g.133355828A>C g.130480441A>C - - ASS1_000016 - PubMed: Engel 2009 - - Germline - - - - - Johan den Dunnen
+/. 3 12 c.835C>T r.(?), r.0 p.(Arg279*), p.(Arg279Ter) - pathogenic g.133355833C>T g.130480446C>T ASS1(NM_000050.4):c.835C>T (p.R279*) - ASS1_000017 rna 2% (nonsense mediated decay), VKGL data sharing initiative Nederland {Gao 2003}, PubMed: Li 2001, OMIM:var0013 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Groningen
+/. 1 12 c.836G>A r.(?) p.(Arg279Gln) - pathogenic g.133355834G>A g.130480447G>A - - ASS1_000018 - PubMed: Kakinoki 1997 - - Germline - - - - - Johan den Dunnen
+/. 1 12 c.838G>C r.838g>c p.Gly280Arg - pathogenic g.133355836G>C g.130480449G>C - - ASS1_000019 - PubMed: Kobayashi 1994 - - Germline - - - - - Johan den Dunnen
+/. 1 12i c.838+1G>A r.spl p.? - pathogenic g.133355837G>A g.130480450G>A - - ASS1_000020 - PubMed: Engel 2009 - - Germline - - - - - Johan den Dunnen
-/. 2 12i c.838+38A>G r.(?) p.(=) - benign g.133355874A>G g.130480487A>G - - ASS1_000004 - PubMed: Mitchell 2009 - rs1215940 Germline - 2/94 - - - Johan den Dunnen
+/. 2 13 c.847G>A r.(?) p.(Glu283Lys) - pathogenic g.133364728G>A g.130489341G>A - - ASS1_000021 - {Gao 2003} - - Germline - - - - - Johan den Dunnen
+/. 2 13 c.851C>T r.(?) p.(Thr284Ile) - pathogenic g.133364732C>T g.130489345C>T - - ASS1_000022 - PubMed: Engel 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 13 c.872A>C r.(?) p.(Tyr291Ser) - pathogenic g.133364753A>C g.130489366A>C - - ASS1_000023 - PubMed: Engel 2009 - - Germline - - - - - Johan den Dunnen
-/. 3 13 c.876T>C r.(?) p.(=), p.(His292=) - benign g.133364757T>C g.130489370T>C ASS1(NM_000050.4):c.876T>C (p.H292=), His292His - ASS1_000005 VKGL data sharing initiative Nederland PubMed: Engel 2009, PubMed: Mitchell 2009 - rs1057484 CLASSIFICATION record, Germline - 11/94 - - - Johan den Dunnen, VKGL-NL_AMC
+/. 1 13 c.887A>G r.(?) p.(Asp296Gly) - pathogenic g.133364768A>G g.130489381A>G - - ASS1_000024 - PubMed: Engel 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 13 c.892del r.(?) p.(Glu298Argfs*18) - pathogenic g.133364773del g.130489386del - - ASS1_000025 - {Enns 2002} - - Germline - - - - - Johan den Dunnen
?/. 1 - c.896C>A r.(?) p.(Ala299Asp) - VUS g.133364777C>A - ASS1(NM_000050.4):c.896C>A (p.A299D) - ASS1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 13 c.904A>G r.(?) p.(Met302Val) - pathogenic g.133364785A>G g.130489398A>G - - ASS1_000026 - {Berning in press} - - Germline - - - - - Johan den Dunnen
+/. 10 13 c.910C>T r.(?), r.910c>u p.(Arg304Trp), p.Arg304Trp - pathogenic g.133364791C>T g.130489404C>T ASS1(NM_000050.4):c.910C>T (p.R304W) - ASS1_000027 VKGL data sharing initiative Nederland {Ban 2001}, {Gao 2003}, PubMed: Kakinoki 1997, PubMed: Kobayashi 1994, 1 more item - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Groningen
+/., +?/., ?/. 4 13 c.919C>T r.(?) p.(Arg307Cys) - likely pathogenic, pathogenic, VUS g.133364800C>T g.130489413C>T - - ASS1_000028 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) {Haberle 2003}, PubMed: Narang 2020, Journal: Narang 2020 - rs183276875 Germline yes 2/2795 individuals - - - Johan den Dunnen, Belen Perez, Mohammed Faruq
+/. 2 13 c.928A>C r.(?) p.(Lys310Gln) - pathogenic g.133364809A>C g.130489422A>C - - ASS1_000029 - Potter ASHG2004 A129, OMIM:var0019, {Gao 2003} - - Germline - - - - - Johan den Dunnen
+/. 1 13 c.929A>G r.(?) p.(Lys310Arg) - pathogenic g.133364810A>G g.130489423A>G - - ASS1_000030 - {Gao 2003} - - Germline - - - - - Johan den Dunnen
+/. 2 13 c.931C>T r.(?) p.(Gln311*) - pathogenic g.133364812C>T g.130489425C>T - - ASS1_000031 - PubMed: Engel 2009 - - Germline - - - - - Johan den Dunnen
-/. 1 13 c.937C>T r.(?) p.(Leu313=) - benign g.133364818C>T g.130489431C>T - - ASS1_000032 - PubMed: Engel 2009 - rs3208841 Germline - - - - - Johan den Dunnen
+/. 1 13 c.952del r.(?) p.(Ala318Leufs*58) - pathogenic g.133364833del g.130489446del - - ASS1_000033 - {Gao 2003} - - Germline - - - - - Johan den Dunnen
+/. 3 13 c.970G>A r.(?), r.spl? p.(Gly324Ser) - pathogenic g.133364851G>A g.130489464G>A - - ASS1_000034 - Kobayashi ASH1989 A201, {Kobayashi 1990}, OMIM:var0007, {Hong 2000}, PubMed: Kim 2006 - - Germline - - - - - Johan den Dunnen
+/. 3 13i c.970+5G>A r.839_970del p.del - pathogenic g.133364856G>A g.130489469G>A - - ASS1_000035 - {Kobayashi 1995}, PubMed: Haberle 2002, OMIM:var0017 - - Germline - - - - - Johan den Dunnen
+/. 1 14 c.971G>T r.(?) p.(Gly324Val) - pathogenic g.133370254G>T g.130494867G>T - - ASS1_000046 - PubMed: Engel 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 14 c.1022C>T r.(?) p.(Ser341Phe) - pathogenic g.133370305C>T g.130494918C>T - - ASS1_000036 - PubMed: Engel 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 14 c.1030C>T r.(?) p.(Arg344*) - pathogenic g.133370313C>T g.130494926C>T - - ASS1_000037 - PubMed: Engel 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 14 c.1034T>G r.(?) p.(Val345Gly) - pathogenic g.133370317T>G g.130494930T>G - - ASS1_000038 - {Haberle 2003} - - Germline - - - - - Johan den Dunnen
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