ClinVar for Gene (Select 101929633) - ClinVar

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Links from Gene

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3147052	NM_001365672.2(COBLL1):c.28G>A (p.Asp10Asn)	COBLL1, LOC101929633 (D56N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352203	NM_001365672.2(COBLL1):c.29A>G (p.Asp10Gly)	COBLL1, LOC101929633 (D56G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	ABCB11, ACVR1 +530 more	Copy number gain	See cases	GPathogenic
Select item 148708	GRCh38/hg38 2q24.3(chr2:164220427-164906646)x1	COBLL1, GRB14 +7 more	Copy number loss	See cases	GUncertain significance
Select item 148507	GRCh38/hg38 2q24.3(chr2:163419387-165682938)x1	COBLL1, CSRNP3 +26 more	Copy number loss	See cases	GLikely pathogenic
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	KLHL23, KLHL41 +488 more	Copy number loss	See cases	GPathogenic
Select item 60245	GRCh38/hg38 2q24.3(chr2:163455290-166962322)x1	COBLL1, CSRNP3 +38 more	Copy number loss	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 57318	GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1	BAZ2B, BAZ2B-AS1 +197 more	Copy number loss	See cases	GPathogenic