"LRRC8A-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2920758	NM_019594.4(LRRC8A):c.-2C>T	LRRC8A	Single nucleotide variant (5 prime UTR variant)	LRRC8A-related condition +1 more	GBenign
Select item 716394	NM_019594.4(LRRC8A):c.51C>T (p.Tyr17=)	LRRC8A	Single nucleotide variant (synonymous variant)	LRRC8A-related condition +2 more	GBenign
Select item 790627	NM_019594.4(LRRC8A):c.117C>T (p.Ala39=)	LRRC8A	Single nucleotide variant (synonymous variant)	LRRC8A-related condition +1 more	GBenign
Select item 2149825	NM_019594.4(LRRC8A):c.209G>A (p.Arg70Gln)	LRRC8A (R70Q)	Single nucleotide variant (missense variant)	LRRC8A-related condition +1 more	GUncertain significance
Select item 1556953	NM_019594.4(LRRC8A):c.267C>T (p.Thr89=)	LRRC8A	Single nucleotide variant (synonymous variant)	LRRC8A-related condition +1 more	GBenign/Likely benign
Select item 1164444	NM_019594.4(LRRC8A):c.333T>C (p.Ala111=)	LRRC8A	Single nucleotide variant (synonymous variant)	LRRC8A-related condition +1 more	GBenign
Select item 1551672	NM_019594.4(LRRC8A):c.552G>A (p.Lys184=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2628620	NM_019594.4(LRRC8A):c.653G>A (p.Arg218Gln)	LRRC8A (R218Q)	Single nucleotide variant (missense variant)	LRRC8A-related condition	GUncertain significance
Select item 1157271	NM_019594.4(LRRC8A):c.804C>A (p.Thr268=)	LRRC8A	Single nucleotide variant (synonymous variant)	LRRC8A-related condition +1 more	GLikely benign
Select item 1079234	NM_019594.4(LRRC8A):c.867C>T (p.Ile289=)	LRRC8A	Single nucleotide variant (synonymous variant)	LRRC8A-related condition +1 more	GLikely benign
Select item 1635364	NM_019594.4(LRRC8A):c.939C>G (p.Pro313=)	LRRC8A	Single nucleotide variant (synonymous variant)	LRRC8A-related condition +1 more	GBenign/Likely benign
Select item 1422401	NM_019594.4(LRRC8A):c.1406C>T (p.Thr469Met)	LRRC8A (T469M)	Single nucleotide variant (missense variant)	LRRC8A-related condition +1 more	GUncertain significance
Select item 776451	NM_019594.4(LRRC8A):c.1458C>T (p.Pro486=)	LRRC8A	Single nucleotide variant (synonymous variant)	LRRC8A-related condition +2 more	GBenign/Likely benign
Select item 801366	NM_019594.4(LRRC8A):c.1586C>T (p.Ala529Val)	LRRC8A (A529V)	Single nucleotide variant (missense variant)	Agammaglobulinemia 5, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 722489	NM_019594.4(LRRC8A):c.1606G>A (p.Val536Ile)	LRRC8A (V536I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 439872	NM_019594.4(LRRC8A):c.1699G>A (p.Val567Met)	LRRC8A (V567M)	Single nucleotide variant (missense variant)	LRRC8A-related condition +2 more	GLikely benign
Select item 716198	NM_019594.4(LRRC8A):c.1788G>A (p.Leu596=)	LRRC8A	Single nucleotide variant (synonymous variant)	LRRC8A-related condition +1 more	GBenign
Select item 776452	NM_019594.4(LRRC8A):c.1803T>C (p.Cys601=)	LRRC8A	Single nucleotide variant (synonymous variant)	LRRC8A-related condition +2 more	GBenign
Select item 810955	NM_019594.4(LRRC8A):c.2118C>G (p.Leu706=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1045781	NM_019594.4(LRRC8A):c.2250G>A (p.Val750=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1664695	NM_019594.4(LRRC8A):c.2323G>A (p.Glu775Lys)	LRRC8A (E775K)	Single nucleotide variant (missense variant)	LRRC8A-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2180688	NM_019594.4(LRRC8A):c.2400G>A (p.Glu800=)	LRRC8A	Single nucleotide variant (synonymous variant)	LRRC8A-related condition +1 more	GLikely benign

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Items: 22