Related gene-specific medical variations for Gene (Select 9860) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 687688	GRCh37/hg19 1p13.2(chr1:113632711-113654634)x1	LRIG2	Copy number loss	not provided	GUncertain significance
Select item 591957	NM_014813.3(LRIG2):c.3G>A (p.Met1Ile)	LRIG2 (M1I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 591828	NM_014813.3(LRIG2):c.1657C>T (p.Gln553Ter)	LRIG2 (Q553* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 591434	NM_014813.3(LRIG2):c.2476del (p.Ile826fs)	LRIG2 (I723fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 591358	NM_014813.3(LRIG2):c.2087C>A (p.Pro696His)	LRIG2 (P696H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591301	NM_014813.3(LRIG2):c.3132del (p.Arg1044fs)	LRIG2 (R941fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 591212	NM_014813.3(LRIG2):c.993del (p.Phe331fs)	LRIG2 (F228fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 562386	NM_014813.3(LRIG2):c.1569C>A (p.Ser523Arg)	LRIG2 (S523R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 562385	NM_014813.3(LRIG2):c.1237G>T (p.Glu413Ter)	LRIG2 (E413* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 549573	NC_000001.11:g.112796384_112887499dup	CAPZA1, LINC01356 +12 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 548631	NM_014813.3(LRIG2):c.256C>T (p.Arg86Trp)	LRIG2 (R86W)	Single nucleotide variant (5 prime UTR variant +1 more)	Urofacial syndrome 2	GUncertain significance
Select item 548630	NM_014813.3(LRIG2):c.1696C>T (p.His566Tyr)	LRIG2 (H566Y +1 more)	Single nucleotide variant (missense variant)	Urofacial syndrome 2	GUncertain significance