LOC126861210[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152667	GRCh38/hg38 11q11-12.1(chr11:55316535-57539457)x3	APLNR, LINC02735 +86 more	Copy number gain	See cases	GUncertain significance
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 149390	GRCh38/hg38 11q12.1(chr11:57047366-57372313)x3	LOC130005701, LOC130005702 +15 more	Copy number gain	See cases	GLikely benign
Select item 2488079	NM_033396.3(TNKS1BP1):c.5081G>T (p.Gly1694Val)	LOC126861210, TNKS1BP1 (G1694V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484156	NM_033396.3(TNKS1BP1):c.5045C>A (p.Ser1682Tyr)	LOC126861210, TNKS1BP1 (S1682Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224825	NM_033396.3(TNKS1BP1):c.4987C>T (p.Arg1663Trp)	LOC126861210, TNKS1BP1 (R1663W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327607	NM_033396.3(TNKS1BP1):c.4984C>T (p.Pro1662Ser)	LOC126861210, TNKS1BP1 (P1662S)	Single nucleotide variant (missense variant)	not specified	GLikely benign

ClinVar