ClinVar for MedGen (Select 1648312) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1727064	NM_198514.4(NHLRC2):c.97_99del (p.Glu33del)	LOC130004775, NHLRC2 (E33del)	Deletion (inframe_deletion)	Fibrosis, neurodegeneration, and cerebral angiomatosis	GUncertain significance
Select item 1727063	NM_198514.4(NHLRC2):c.1385T>C (p.Phe462Ser)	NHLRC2 (F462S)	Single nucleotide variant (missense variant)	Fibrosis, neurodegeneration, and cerebral angiomatosis	GUncertain significance
Select item 1727062	NM_198514.4(NHLRC2):c.1094A>C (p.Gln365Pro)	NHLRC2 (Q365P)	Single nucleotide variant (missense variant)	Fibrosis, neurodegeneration, and cerebral angiomatosis	GUncertain significance
Select item 1727061	NM_198514.4(NHLRC2):c.2074G>T (p.Asp692Tyr)	NHLRC2 (D692Y)	Single nucleotide variant (missense variant)	Fibrosis, neurodegeneration, and cerebral angiomatosis	GUncertain significance
Select item 1727060	NM_198514.4(NHLRC2):c.1750del (p.Phe583_Leu584insTer)	NHLRC2	Deletion (nonsense)	Fibrosis, neurodegeneration, and cerebral angiomatosis	GLikely pathogenic
Select item 1679135	NM_198514.4(NHLRC2):c.1A>G (p.Met1Val)	LOC130004775, NHLRC2 (M1V)	Single nucleotide variant (missense variant +1 more)	Fibrosis, neurodegeneration, and cerebral angiomatosis	GConflicting classifications of pathogenicity
Select item 1319311	NM_198514.4(NHLRC2):c.148C>T (p.Gln50Ter)	LOC130004775, NHLRC2 (Q50*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1279932	NM_198514.4(NHLRC2):c.428A>C (p.His143Pro)	NHLRC2	Single nucleotide variant (missense variant)	Fibrosis, neurodegeneration, and cerebral angiomatosis	GPathogenic
Select item 1279931	NM_198514.4(NHLRC2):c.1013C>T (p.Pro338Leu)	NHLRC2	Single nucleotide variant (missense variant)	Fibrosis, neurodegeneration, and cerebral angiomatosis	GPathogenic
Select item 1279930	NM_198514.4(NHLRC2):c.224A>T (p.Asp75Val)	NHLRC2	Single nucleotide variant (missense variant)	Fibrosis, neurodegeneration, and cerebral angiomatosis	GPathogenic
Select item 1027927	NM_198514.4(NHLRC2):c.1348G>T (p.Val450Leu)	NHLRC2 (V450L)	Single nucleotide variant (missense variant)	Fibrosis, neurodegeneration, and cerebral angiomatosis	GUncertain significance
Select item 599378	NM_198514.4(NHLRC2):c.601_602del (p.Arg201fs)	NHLRC2 (R201fs)	Deletion (frameshift variant)	Fibrosis, neurodegeneration, and cerebral angiomatosis	GPathogenic
Select item 599377	NM_198514.4(NHLRC2):c.442G>T (p.Asp148Tyr)	NHLRC2 (D148Y)	Single nucleotide variant (missense variant)	Fibrosis, neurodegeneration, and cerebral angiomatosis +1 more	GPathogenic