Unique variants in the GYG2 gene

Information The variants shown are described using the NM_003918.2 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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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     
?/. 2 - c.-128-51T>C r.(=) p.(=) - VUS g.2748051T>C g.2830010T>C - - GYG2_000015 - - - - Germline - - - - - Yu Sun
?/. 2 - c.7+17G>C r.(=) p.(=) - VUS g.2748253G>C g.2830212G>C - - GYG2_000017 - - - - Germline - - - - - Yu Sun
?/. 2 - c.7+56C>G r.(=) p.(=) - VUS g.2748292C>G g.2830251C>G - - GYG2_000020 - - - - Germline - - - - - Yu Sun
?/. 2 - c.7+185G>A r.(=) p.(=) - VUS g.2748421G>A g.2830380G>A - - GYG2_000023 - - - - Germline - - - - - Yu Sun
?/. 1 4 c.112C>T r.(?) H7Y - VUS g.2761265C>T - H7Y - GYG2_000060 1 more item PubMed: Tarpey 2009 - - Germline - 25/208 cases - - - Lucy Raymond
-?/. 1 - c.235C>G r.(?) p.(Leu79Val) - likely benign g.2761388C>G g.2843347C>G GYG2(NM_003918.2):c.235C>G (p.L79V) - GYG2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.332C>A r.(?) p.(Pro111His) - VUS g.2772110C>A - GYG2(NM_003918.2):c.332C>A (p.P111H) - GYG2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.417+203T>G r.(=) p.(=) - VUS g.2772398T>G g.2854357T>G - - GYG2_000025 - - - - Germline - - - - - Yu Sun
?/. 2 - c.418-262T>C r.(=) p.(=) - VUS g.2772772T>C g.2854731T>C - - GYG2_000028 - - - - Germline - - - - - Yu Sun
?/. 2 - c.418-242C>T r.(=) p.(=) - VUS g.2772792C>T g.2854751C>T - - GYG2_000030 - - - - Germline - - - - - Yu Sun
?/. 2 - c.581-61A>G r.(=) p.(=) - VUS g.2774478A>G g.2856437A>G - - GYG2_000033 - - - - Germline - - - - - Yu Sun
?/. 2 - c.707+128G>C r.(=) p.(=) - VUS g.2774793G>C g.2856752G>C - - GYG2_000036 - - - - Germline - - - - - Yu Sun
?/. 4 - c.707+187_707+190dup r.(=) p.(=) - VUS g.2774852_2774855dup g.2856811_2856814dup - - GYG2_000038, GYG2_000052 - - - - Germline - - - - - Yu Sun
-?/. 1 8 c.744G>A r.(?) p.(=) - likely benign g.2777920G>A g.2859879G>A P217P - GYG2_000061 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 2 - c.809C>T r.(?) p.(Ala270Val) - VUS g.2777985C>T g.2859944C>T - - GYG2_000040 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.832G>A r.(?) p.(Ala278Thr) - likely benign g.2778008G>A g.2859967G>A GYG2(NM_003918.2):c.832G>A (p.A278T) - GYG2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 8 c.902C>T r.(?) A270V - VUS g.2778078C>T - A270V - GYG2_000062 1 more item PubMed: Tarpey 2009 - - Germline - 145/208 cases - - - Lucy Raymond
?/. 1 - c.904del r.(?) p.(Glu302LysfsTer61) - VUS g.2778080del - GYG2(NM_003918.2):c.904delG (p.E302Kfs*61) - GYG2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 2 - c.930+216G>A r.(=) p.(=) - VUS g.2778322G>A g.2860281G>A - - GYG2_000043 - - - - Germline - - - - - Yu Sun
?/. 2 - c.931-233T>C r.(=) p.(=) - VUS g.2779330T>C g.2861289T>C - - GYG2_000046 - - - - Germline - - - - - Yu Sun
?/. 2 - c.938A>G r.(?) p.(His313Arg) - VUS g.2779570A>G g.2861529A>G - - GYG2_000049 - - - - Germline - - - - - Yu Sun
?/. 1 9 c.1031A>G r.(?) H313R - VUS g.2779663A>G g.2861622A>G H313R - GYG2_000063 recurrent, found 139 times PubMed: Tarpey 2009 - - Germline - 139/208 cases - - - Lucy Raymond
-?/. 1 - c.1043G>A r.(?) p.(Gly348Asp) - likely benign g.2779675G>A g.2861634G>A GYG2(NM_003918.2):c.1043G>A (p.G348D) - GYG2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1070C>T r.(?) p.(Pro357Leu) - likely benign g.2779702C>T - GYG2(NM_003918.2):c.1070C>T (p.P357L) - GYG2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1117C>T r.(?) p.(Arg373Cys) - likely benign g.2779749C>T g.2861708C>T GYG2(NM_001079855.1):c.1024C>T (p.(Arg342Cys)) - GYG2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 3 - c.1131+358_1131+361dup r.(=) p.(=) - VUS g.2780121_2780124dup g.2862080_2862083dup - - GYG2_000001, GYG2_000053 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.1190A>T r.(?) p.(Gln397Leu) - likely benign g.2793909A>T g.2875868A>T GYG2(NM_003918.2):c.1190A>T (p.Q397L) - GYG2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1203G>C r.(?) p.(Gln401His) - likely benign g.2793922G>C g.2875881G>C GYG2(NM_003918.2):c.1203G>C (p.Q401H) - GYG2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 10 c.1210C>T r.(?) R373C - VUS g.2793929C>T - R373C - GYG2_000064 1 more item PubMed: Tarpey 2009 - - Germline - 3/208 cases - - - Lucy Raymond
?/. 1 - c.1232T>C r.(?) p.(Ile411Thr) - VUS g.2793951T>C g.2875910T>C GYG2(NM_001079855.1):c.1139T>C (p.(Ile380Thr)) - GYG2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.1236+139_1236+147del r.(=) p.(=) - VUS g.2794094_2794102del g.2876053_2876061del - - GYG2_000002 - - - - Germline - - - - - Yu Sun
?/. 2 - c.1236+140_1236+147del r.(=) p.(=) - VUS g.2794095_2794102del g.2876054_2876061del - - GYG2_000004 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1261G>A r.(?) p.(Val421Ile) - VUS g.2795265G>A g.2877224G>A GYG2(NM_001079855.1):c.1168G>A (p.(Val390Ile)) - GYG2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1282G>C r.(?) p.(Glu428Gln) - likely benign g.2795286G>C - GYG2(NM_003918.2):c.1282G>C (p.E428Q) - GYG2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.*1041G>C r.(=) p.(=) - VUS g.2800295G>C g.2882254G>C - - GYG2_000006 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*1370G>T r.(=) p.(=) - VUS g.2800624G>T g.2882583G>T - - GYG2_000009 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*1423A>G r.(=) p.(=) - VUS g.2800677A>G g.2882636A>G - - GYG2_000012 - - - - Germline - - - - - Yu Sun
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