Unique variants in the CRYM gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001888.3 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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 1i c.?C>T r.(=) p.(=) - benign g.? - IVS1-116C>T - CRYM_000000 no C or T at c.171-116 PubMed: Abe 2003 - - Germline - 90/364 - - - Johan den Dunnen
./. 1 - c.-601967_-193+50del r.(=) p.(=) - pathogenic g.21314249_21916073del g.21302928_21904752del - - CRYM-AS1_000001 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
-/. 1 3i c.171-119G>A r.(=) p.(=) - benign g.21289024C>T g.21277703C>T IVS1-119G>A - CRYM_000005 - PubMed: Abe 2003 - - Germline - 3/364 - - - Johan den Dunnen
-?/. 1 - c.247C>G r.(?) p.(Arg83Gly) - likely benign g.21288829G>C g.21277508G>C CRYM(NM_001888.4):c.247C>G (p.R83G) - CRYM_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.325-12T>C r.(=) p.(=) - benign g.21286927A>G g.21275606A>G CRYM(NM_001888.4):c.325-12T>C - CRYM_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.343A>G r.(?) p.(Ile115Val) - likely benign g.21286897T>C g.21275576T>C CRYM(NM_001888.4):c.343A>G (p.I115V) - CRYM_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.424C>T r.(?) p.(Leu142Phe) - VUS g.21281176G>A g.21269855G>A CRYM(NM_001888.4):c.424C>T (p.L142F) - CRYM_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.489+8C>G r.(=) p.(=) - likely benign g.21281103G>C g.21269782G>C CRYM(NM_001888.4):c.489+8C>G - CRYM_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.489+9A>G r.(=) p.(=) - likely benign g.21281102T>C g.21269781T>C CRYM(NM_001888.4):c.489+9A>G - CRYM_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 6i c.489+38C>G r.(=) p.(=) - benign g.21281073G>C g.21269752G>C IVS4+38C>G - CRYM_000006 1 more item PubMed: Abe 2003 - rs2272559 Germline - 252/336 - - - Johan den Dunnen
-/. 1 - c.490-12C>T r.(=) p.(=) - benign g.21279070G>A g.21267749G>A CRYM(NM_001888.4):c.490-12C>T - CRYM_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.518A>G r.(?) p.(Asn173Ser) - VUS g.21279030T>C g.21267709T>C CRYM(NM_001888.4):c.518A>G (p.N173S) - CRYM_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.523G>T r.(?) p.(Glu175Ter) - likely benign g.21279025C>A g.21267704C>A CRYM(NM_001888.4):c.523G>T (p.E175*) - CRYM_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.524A>T r.(?) p.(Glu175Val) - likely benign g.21279024T>A - CRYM(NM_001888.4):c.524A>T (p.E175V) - CRYM_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.795G>T r.(?) p.(Gly265=) - likely benign g.21273358C>A g.21262037C>A - - CRYM_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 2 - c.807T>C r.(?) p.(Phe269=) - benign, likely benign g.21272648A>G g.21261327A>G CRYM(NM_001888.4):c.807T>C (p.F269=) - CRYM_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.863C>T r.(?) p.(Thr288Ile) - likely benign g.21272592G>A g.21261271G>A - - CRYM_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.864C>G r.(?) p.(Thr288=) - benign g.21272591G>C g.21261270G>C CRYM(NM_001888.4):c.864C>G (p.T288=) - CRYM_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 1 9 c.864G>C r.(?) p.(=) - benign g.21272591C>G g.21261270C>G - - CRYM_000003 1 more item PubMed: Abe 2003 - rs14122 Germline - 94/330 - - - Johan den Dunnen
+/. 3 10 c.941A>C c.941a>c, r.(?) p.(Lys314Thr) - NA, pathogenic g.21270106T>G g.21258785T>G - - CRYM_000002 not in 192 control chromosomes, 1 more item PubMed: Abe 2003, OMIM:var0002, PubMed: Abe 2003, PubMed: 16740909 - rs104894512 Germline, In vitro (cloned) - 1/384 - - - Johan den Dunnen
+/., ?/. 3 10 c.945A>T r.(?), r.945a>u p.(*315Tyrext*5) - NA, pathogenic, VUS g.21270102T>A g.21258781T>A - - CRYM_000001 expression cloning COS-7 cells, 96h post transfection vacuolation pattern cytoplasm, 1 more item PubMed: Abe 2003, OMIM:var0001, PubMed: Abe 2003, PubMed: 16740909 - rs104894509 De novo, Germline, In vitro (cloned) - 1/384 - - - Johan den Dunnen
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