ClinVar

GRCh37/hg19 17q25.1(chr17:72875847-73484159)x3

Genes:

• NT5C:5', 3'-nucleotidase, cytosolic [Gene - OMIM - HGNC]
• ATP5PD:ATP synthase peripheral stalk subunit d [Gene - OMIM - HGNC]
• HID1:HID1 domain containing [Gene - OMIM - HGNC]
• JPT1:Jupiter microtubule associated homolog 1 [Gene - OMIM - HGNC]
• MIF4GD:MIF4G domain containing [Gene - OMIM - HGNC]
• USH1G:USH1 protein network component sans [Gene - OMIM - HGNC]
• ARMC7:armadillo repeat containing 7 [Gene - HGNC]
• CDR2L:cerebellar degeneration related protein 2 like [Gene - HGNC]
• FADS6:fatty acid desaturase 6 [Gene - OMIM - HGNC]
• GGA3:golgi associated, gamma adaptin ear containing, ARF binding protein 3 [Gene - OMIM - HGNC]
• GRB2:growth factor receptor bound protein 2 [Gene - OMIM - HGNC]
• MRPL58:mitochondrial ribosomal protein L58 [Gene - OMIM - HGNC]
• MRPS7:mitochondrial ribosomal protein S7 [Gene - OMIM - HGNC]
• NUP85:nucleoporin 85 [Gene - OMIM - HGNC]
• OTOP2:otopetrin 2 [Gene - OMIM - HGNC]
• OTOP3:otopetrin 3 [Gene - OMIM - HGNC]
• KCTD2:potassium channel tetramerization domain containing 2 [Gene - OMIM - HGNC]
• SUMO2:small ubiquitin like modifier 2 [Gene - OMIM - HGNC]
• SLC16A5:solute carrier family 16 member 5 [Gene - OMIM - HGNC]
• SLC25A19:solute carrier family 25 member 19 [Gene - OMIM - HGNC]
• TMEM94:transmembrane protein 94 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

17q25.1

Genomic location:

Chr17: 72875847 - 73484159 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 17q25.1(chr17:72875847-73484159)x3

HGVS:

This HGVS expression did not pass validation

Observations:

1