LOC126859654[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 1225649	NM_001365276.2(TNXB):c.10325-223G>A	LOC126859654, TNXB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189225	NM_001365276.2(TNXB):c.10324+83G>A	LOC126859654, TNXB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3327905	NM_001365276.2(TNXB):c.10303A>T (p.Ile3435Phe)	LOC126859654, TNXB (I3433F +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1304068	NM_001365276.2(TNXB):c.10300C>T (p.Pro3434Ser)	LOC126859654, TNXB (P3432S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3327915	NM_001365276.2(TNXB):c.10292G>C (p.Arg3431Pro)	LOC126859654, TNXB (R3431P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1770042	NM_001365276.2(TNXB):c.10292G>A (p.Arg3431Gln)	LOC126859654, TNXB (R3431Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2434194	NM_001365276.2(TNXB):c.10291C>T (p.Arg3431Ter)	LOC126859654, TNXB (R3429* +1 more)	Single nucleotide variant (nonsense)	Vesicoureteral reflux 8	GLikely pathogenic

ClinVar