ClinVar for Gene (Select 129931468) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3119574	NM_000427.3(LORICRIN):c.589G>A (p.Gly197Ser)	LOC129931468, LORICRIN (G197S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2990137	NM_000427.3(LORICRIN):c.586T>G (p.Cys196Gly)	LOC129931468, LORICRIN (C196G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1048924	NM_000427.3(LORICRIN):c.619G>A (p.Gly207Ser)	LOC129931468, LORICRIN (G207S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 982193	NM_000427.3(LORICRIN):c.619G>T (p.Gly207Cys)	LOC129931468, LORICRIN (G207C)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 147363	GRCh38/hg38 1q21.3(chr1:152951169-153495655)x3	LELP1, LOC101928009 +33 more	Copy number gain	See cases	GUncertain significance

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