| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. | 28942966 | 2017 |
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|
T | 0.700 | CausalMutation | CLINVAR | Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. | 26350204 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. | 22426309 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
0.020 | GeneticVariation | BEFREE | The INSL3 G178A polymorphism was not significantly associated with spermatozoa or no spermatozoa in the testes of males with a history of bilateral cryptorchidism. | 26840636 | 2016 |
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|
0.020 | GeneticVariation | BEFREE | The common INSL3 G178A polymorphism was not statistically significantly associated with male infertility (P>.05), even though INSL3 is essential for the occurrence of bilateral cryptorchidism. | 17559848 | 2007 |
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|
0.010 | GeneticVariation | BEFREE | A missense homozygous variant (c.890G>T p.R297L) in KISS1R was identified in a child who presented with microphallus and bilateral cryptorchidism. | 29452377 | 2018 |
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|
0.010 | GeneticVariation | BEFREE | We report on a novel WT1 nonsense mutation (c.1105C>T), introducing a premature stop codon in exon 8 (p.Q369X), in a young XY male patient who presented with bilateral cryptorchidism, nystagmus, mild proteinuria and WT, but no sign of severe nephropathy. | 19048299 | 2009 |