"NLRP7-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2635805	NM_001127255.2(NLRP7):c.2808dup (p.Arg937fs)	NCR1, NLRP7 (R909fs +1 more)	Duplication (frameshift variant)	NLRP7-related disorder	GLikely pathogenic
Select item 3043555	NM_001127255.2(NLRP7):c.2542C>T (p.Leu848=)	NCR1, NLRP7	Single nucleotide variant (synonymous variant)	NLRP7-related disorder	GLikely benign
Select item 3025285	NM_001127255.2(NLRP7):c.2444G>A (p.Arg815His)	NCR1, NLRP7 (R787H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 894775	NM_001127255.2(NLRP7):c.2383C>T (p.Arg795Cys)	NCR1, NLRP7 (R795C +1 more)	Single nucleotide variant (missense variant)	NLRP7-related disorder +1 more	GBenign/Likely benign
Select item 3048430	NM_001127255.2(NLRP7):c.2364C>T (p.Asn788=)	NCR1, NLRP7	Single nucleotide variant (synonymous variant)	NLRP7-related disorder	GLikely benign
Select item 893605	NM_001127255.2(NLRP7):c.1762G>A (p.Val588Met)	NLRP7 (V588M)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1 +3 more	GConflicting classifications of pathogenicity
Select item 290507	NM_001127255.2(NLRP7):c.1460G>A (p.Gly487Glu)	NLRP7 (G487E)	Single nucleotide variant (missense variant)	NLRP7-related disorder +2 more	GBenign
Select item 3046529	NM_001127255.2(NLRP7):c.1280T>C (p.Met427Thr)	NLRP7 (M427T)	Single nucleotide variant (missense variant)	NLRP7-related disorder	GLikely benign
Select item 892830	NM_001127255.2(NLRP7):c.1149G>A (p.Pro383=)	NLRP7	Single nucleotide variant (synonymous variant)	Hydatidiform mole, recurrent, 1 +1 more	GConflicting classifications of pathogenicity
Select item 1031155	NM_001127255.2(NLRP7):c.298A>G (p.Ile100Val)	NLRP7 (I100V)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1 +2 more	GConflicting classifications of pathogenicity