"Ambry Genetics"[submitter] AND "LRRC66"[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3291717	NM_001024611.3(LRRC66):c.2609C>T (p.Ala870Val)	LRRC66 (A870V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560214	NM_001024611.3(LRRC66):c.2545G>A (p.Val849Met)	LRRC66 (V849M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2297391	NM_001024611.3(LRRC66):c.2375A>G (p.Asn792Ser)	LRRC66 (N792S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3120863	NM_001024611.3(LRRC66):c.2350G>C (p.Gly784Arg)	LRRC66 (G784R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262069	NM_001024611.3(LRRC66):c.2341C>T (p.Pro781Ser)	LRRC66 (P781S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345124	NM_001024611.3(LRRC66):c.2212G>C (p.Glu738Gln)	LRRC66 (E738Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120862	NM_001024611.3(LRRC66):c.2170A>G (p.Lys724Glu)	LRRC66 (K724E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323325	NM_001024611.3(LRRC66):c.2168G>A (p.Ser723Asn)	LRRC66 (S723N)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3120861	NM_001024611.3(LRRC66):c.2167A>C (p.Ser723Arg)	LRRC66 (S723R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291715	NM_001024611.3(LRRC66):c.2074C>G (p.Pro692Ala)	LRRC66 (P692A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120858	NM_001024611.3(LRRC66):c.1994G>A (p.Gly665Asp)	LRRC66 (G665D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3120857	NM_001024611.3(LRRC66):c.1943C>G (p.Ala648Gly)	LRRC66 (A648G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311406	NM_001024611.3(LRRC66):c.1934C>G (p.Ala645Gly)	LRRC66 (A645G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550116	NM_001024611.3(LRRC66):c.1858T>C (p.Phe620Leu)	LRRC66 (F620L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359030	NM_001024611.3(LRRC66):c.1854G>A (p.Met618Ile)	LRRC66 (M618I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120856	NM_001024611.3(LRRC66):c.1853T>C (p.Met618Thr)	LRRC66 (M618T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304038	NM_001024611.3(LRRC66):c.1730A>T (p.Asp577Val)	LRRC66 (D577V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120855	NM_001024611.3(LRRC66):c.1729G>T (p.Asp577Tyr)	LRRC66 (D577Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507637	NM_001024611.3(LRRC66):c.1694T>G (p.Val565Gly)	LRRC66 (V565G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378408	NM_001024611.3(LRRC66):c.1689C>G (p.His563Gln)	LRRC66 (H563Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3120854	NM_001024611.3(LRRC66):c.1673T>C (p.Val558Ala)	LRRC66 (V558A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291719	NM_001024611.3(LRRC66):c.1652A>T (p.His551Leu)	LRRC66 (H551L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619660	NM_001024611.3(LRRC66):c.1647T>G (p.Ser549Arg)	LRRC66 (S549R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291720	NM_001024611.3(LRRC66):c.1633G>A (p.Glu545Lys)	LRRC66 (E545K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120853	NM_001024611.3(LRRC66):c.1546G>A (p.Gly516Ser)	LRRC66 (G516S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120852	NM_001024611.3(LRRC66):c.1544C>T (p.Ala515Val)	LRRC66 (A515V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224708	NM_001024611.3(LRRC66):c.1474G>A (p.Gly492Arg)	LRRC66 (G492R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591683	NM_001024611.3(LRRC66):c.1444C>A (p.Pro482Thr)	LRRC66 (P482T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392561	NM_001024611.3(LRRC66):c.1355A>G (p.Tyr452Cys)	LRRC66 (Y452C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350063	NM_001024611.3(LRRC66):c.1349G>T (p.Ser450Ile)	LRRC66 (S450I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360506	NM_001024611.3(LRRC66):c.1294G>A (p.Ala432Thr)	LRRC66 (A432T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518014	NM_001024611.3(LRRC66):c.1258T>A (p.Tyr420Asn)	LRRC66 (Y420N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120850	NM_001024611.3(LRRC66):c.1225T>C (p.Cys409Arg)	LRRC66 (C409R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270219	NM_001024611.3(LRRC66):c.1213T>C (p.Trp405Arg)	LRRC66 (W405R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120849	NM_001024611.3(LRRC66):c.1168G>C (p.Ala390Pro)	LRRC66 (A390P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351226	NM_001024611.3(LRRC66):c.1144T>G (p.Ser382Ala)	LRRC66 (S382A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2270466	NM_001024611.3(LRRC66):c.1127C>G (p.Ala376Gly)	LRRC66 (A376G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120848	NM_001024611.3(LRRC66):c.1096G>A (p.Gly366Ser)	LRRC66 (G366S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253977	NM_001024611.3(LRRC66):c.1033C>T (p.Leu345Phe)	LRRC66 (L345F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120847	NM_001024611.3(LRRC66):c.1000A>T (p.Thr334Ser)	LRRC66 (T334S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120867	NM_001024611.3(LRRC66):c.970C>T (p.Pro324Ser)	LRRC66 (P324S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459466	NM_001024611.3(LRRC66):c.937A>C (p.Met313Leu)	LRRC66 (M313L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549510	NM_001024611.3(LRRC66):c.922A>C (p.Ile308Leu)	LRRC66 (I308L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241275	NM_001024611.3(LRRC66):c.908C>A (p.Thr303Asn)	LRRC66 (T303N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548119	NM_001024611.3(LRRC66):c.878G>C (p.Gly293Ala)	LRRC66 (G293A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120866	NM_001024611.3(LRRC66):c.874G>T (p.Gly292Trp)	LRRC66 (G292W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3120865	NM_001024611.3(LRRC66):c.872A>G (p.Asn291Ser)	LRRC66 (N291S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300819	NM_001024611.3(LRRC66):c.867G>C (p.Glu289Asp)	LRRC66 (E289D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494032	NM_001024611.3(LRRC66):c.849G>T (p.Arg283Ser)	LRRC66 (R283S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494454	NM_001024611.3(LRRC66):c.832A>G (p.Asn278Asp)	LRRC66 (N278D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517623	NM_001024611.3(LRRC66):c.784G>A (p.Val262Met)	LRRC66 (V262M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610487	NM_001024611.3(LRRC66):c.701T>A (p.Ile234Asn)	LRRC66 (I234N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291714	NM_001024611.3(LRRC66):c.692T>A (p.Leu231Gln)	LRRC66 (L231Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291718	NM_001024611.3(LRRC66):c.641C>A (p.Ala214Asp)	LRRC66 (A214D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589175	NM_001024611.3(LRRC66):c.631C>T (p.Pro211Ser)	LRRC66 (P211S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409009	NM_001024611.3(LRRC66):c.618G>C (p.Lys206Asn)	LRRC66 (K206N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120864	NM_001024611.3(LRRC66):c.493A>G (p.Lys165Glu)	LRRC66 (K165E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350877	NM_001024611.3(LRRC66):c.340T>G (p.Leu114Val)	LRRC66 (L114V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594687	NM_001024611.3(LRRC66):c.284A>G (p.Asn95Ser)	LRRC66 (N95S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120860	NM_001024611.3(LRRC66):c.209A>G (p.Asn70Ser)	LRRC66 (N70S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2397933	NM_001024611.3(LRRC66):c.193G>A (p.Val65Met)	LRRC66 (V65M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526477	NM_001024611.3(LRRC66):c.43C>T (p.Leu15Phe)	LRRC66 (L15F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

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Items: 62