ClinVar

GRCh37/hg19 19q13.13-13.2(chr19:38512717-39291526)x3

Genes:

• RASGRP4:RAS guanyl releasing protein 4 [Gene - OMIM - HGNC]
• YIF1B:Yip1 interacting factor homolog B, membrane trafficking protein [Gene - OMIM - HGNC]
• ACTN4:actinin alpha 4 [Gene - OMIM - HGNC]
• CAPN12:calpain 12 [Gene - OMIM - HGNC]
• CATSPERG:cation channel sperm associated auxiliary subunit gamma [Gene - OMIM - HGNC]
• C19orf33:chromosome 19 open reading frame 33 [Gene - OMIM - HGNC]
• DPF1:double PHD fingers 1 [Gene - OMIM - HGNC]
• EIF3K:eukaryotic translation initiation factor 3 subunit K [Gene - OMIM - HGNC]
• FAM98C:family with sequence similarity 98 member C [Gene - HGNC]
• LGALS7:galectin 7 [Gene - OMIM - HGNC]
• LGALS7B:galectin 7B [Gene - OMIM - HGNC]
• GGN:gametogenetin [Gene - OMIM - HGNC]
• MAP4K1:mitogen-activated protein kinase kinase kinase kinase 1 [Gene - OMIM - HGNC]
• KCNK6:potassium two pore domain channel subfamily K member 6 [Gene - OMIM - HGNC]
• PSMD8:proteasome 26S subunit, non-ATPase 8 [Gene - OMIM - HGNC]
• PPP1R14A:protein phosphatase 1 regulatory inhibitor subunit 14A [Gene - OMIM - HGNC]
• RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]
• SPINT2:serine peptidase inhibitor, Kunitz type 2 [Gene - OMIM - HGNC]
• SIPA1L3:signal induced proliferation associated 1 like 3 [Gene - OMIM - HGNC]
• SPRED3:sprouty related EVH1 domain containing 3 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

19q13.13-13.2

Genomic location:

Chr19: 38512717 - 39291526 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 19q13.13-13.2(chr19:38512717-39291526)x3

HGVS:

This HGVS expression did not pass validation