"Ambry Genetics"[submitter] AND "LRRC18"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2473068	NM_001378102.1(LRRC18):c.770G>A (p.Arg257His)	LRRC18, WDFY4 (R257H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359403	NM_001378102.1(LRRC18):c.744G>T (p.Lys248Asn)	LRRC18, WDFY4 (K248N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620552	NM_001378102.1(LRRC18):c.727C>T (p.Pro243Ser)	LRRC18, WDFY4 (P243S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382789	NM_001378102.1(LRRC18):c.635G>A (p.Arg212Lys)	LRRC18, WDFY4 (R212K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3120432	NM_001378102.1(LRRC18):c.625G>A (p.Ala209Thr)	LRRC18, WDFY4 (A209T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599880	NM_001378102.1(LRRC18):c.589A>C (p.Asn197His)	LRRC18, WDFY4 (N197H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371127	NM_001378102.1(LRRC18):c.554C>T (p.Ser185Leu)	LRRC18, WDFY4 (S185L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522555	NM_001378102.1(LRRC18):c.524A>G (p.Lys175Arg)	LRRC18, WDFY4 (K175R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295008	NM_001378102.1(LRRC18):c.514C>G (p.Leu172Val)	LRRC18, WDFY4 (L172V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374429	NM_001378102.1(LRRC18):c.490T>C (p.Ser164Pro)	LRRC18, WDFY4 (S164P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536641	NM_001378102.1(LRRC18):c.471C>A (p.Asn157Lys)	LRRC18, WDFY4 (N157K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276435	NM_001378102.1(LRRC18):c.442G>A (p.Glu148Lys)	LRRC18, WDFY4 (E148K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120431	NM_001378102.1(LRRC18):c.373G>A (p.Ala125Thr)	LRRC18, WDFY4 (A125T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3291510	NM_001378102.1(LRRC18):c.343G>A (p.Val115Met)	LRRC18, WDFY4 (V115M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489721	NM_001378102.1(LRRC18):c.285G>A (p.Met95Ile)	LRRC18, WDFY4 (M95I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466654	NM_001378102.1(LRRC18):c.275T>C (p.Ile92Thr)	LRRC18, WDFY4 (I92T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278168	NM_001378102.1(LRRC18):c.189G>C (p.Arg63Ser)	LRRC18, WDFY4 (R63S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120430	NM_001378102.1(LRRC18):c.142C>T (p.Arg48Cys)	LRRC18, WDFY4 (R48C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371412	NM_001378102.1(LRRC18):c.142C>A (p.Arg48Ser)	LRRC18, WDFY4 (R48S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214937	NM_001378102.1(LRRC18):c.79G>A (p.Asp27Asn)	LRRC18, WDFY4 (D27N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551231	NM_001378102.1(LRRC18):c.70A>G (p.Ile24Val)	LRRC18, WDFY4 (I24V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 21