ClinVar for Gene (Select 126807625) - ClinVar - NCBI

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Links from Gene

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2319121	NM_025158.5(RUFY1):c.877G>A (p.Asp293Asn)	LOC126807625, LOC128966623 +1 more (D185N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 155523	GRCh38/hg38 5q35.3(chr5:178983149-179627701)x3	ADAMTS2, GRM6 +20 more	Copy number gain	See cases	GLikely benign
Select item 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	LOC129995370, LOC129995371 +325 more	Copy number loss	See cases	GPathogenic
Select item 154193	GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3	ADAMTS2, BTNL3 +207 more	Copy number gain	See cases	GLikely pathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	ADAMTS2, ARL10 +386 more	Copy number loss	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	ADAMTS2, ARL10 +622 more	Copy number gain	See cases	GPathogenic
Select item 148408	GRCh38/hg38 5q35.3(chr5:178988364-179593557)x3	ADAMTS2, GRM6 +14 more	Copy number gain	See cases	GLikely benign
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	LOC129995377, LOC129995378 +676 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995188, LOC129995189 +863 more	Copy number gain	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 57495	GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3	ADAMTS2, BTNL3 +203 more	Copy number gain	See cases	GUncertain significance