"Ambry Genetics"[submitter] AND "LMAN1L"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2354008	NM_021819.3(LMAN1L):c.8C>T (p.Ala3Val)	LMAN1L (A3V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3290880	NM_021819.3(LMAN1L):c.30A>T (p.Leu10Phe)	LMAN1L (L10F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402810	NM_021819.3(LMAN1L):c.32T>C (p.Phe11Ser)	LMAN1L (F11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541092	NM_021819.3(LMAN1L):c.47T>G (p.Leu16Arg)	LMAN1L (L16R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457713	NM_021819.3(LMAN1L):c.55G>A (p.Asp19Asn)	LMAN1L (D19N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119204	NM_021819.3(LMAN1L):c.148G>A (p.Gly50Arg)	LMAN1L (G50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290879	NM_021819.3(LMAN1L):c.163A>G (p.Ser55Gly)	LMAN1L (S55G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522897	NM_021819.3(LMAN1L):c.179C>T (p.Ala60Val)	LMAN1L (A60V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522898	NM_021819.3(LMAN1L):c.185T>A (p.Leu62Gln)	LMAN1L (L62Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485493	NM_021819.3(LMAN1L):c.284T>C (p.Val95Ala)	LMAN1L (V95A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589686	NM_021819.3(LMAN1L):c.299C>T (p.Thr100Met)	LMAN1L (T100M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529832	NM_021819.3(LMAN1L):c.305T>G (p.Leu102Arg)	LMAN1L (L102R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119206	NM_021819.3(LMAN1L):c.371T>C (p.Val124Ala)	LMAN1L (V124A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299983	NM_021819.3(LMAN1L):c.404G>T (p.Gly135Val)	LMAN1L (G135V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119207	NM_021819.3(LMAN1L):c.514G>A (p.Gly172Arg)	LMAN1L (G172R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119208	NM_021819.3(LMAN1L):c.595C>T (p.Arg199Cys)	LMAN1L (R199C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119209	NM_021819.3(LMAN1L):c.679G>A (p.Gly227Ser)	LMAN1L (G227S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339318	NM_021819.3(LMAN1L):c.692T>A (p.Val231Asp)	LMAN1L (V231D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319001	NM_021819.3(LMAN1L):c.697G>A (p.Ala233Thr)	LMAN1L (A233T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257382	NM_021819.3(LMAN1L):c.812G>A (p.Arg271His)	LMAN1L (R271H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119211	NM_021819.3(LMAN1L):c.831A>C (p.Glu277Asp)	LMAN1L (E277D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388999	NM_021819.3(LMAN1L):c.935C>T (p.Thr312Met)	LMAN1L (T312M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492238	NM_021819.3(LMAN1L):c.949C>T (p.Arg317Cys)	LMAN1L (R317C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351417	NM_021819.3(LMAN1L):c.952C>G (p.Arg318Gly)	LMAN1L (R318G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613542	NM_021819.3(LMAN1L):c.970C>T (p.Arg324Trp)	LMAN1L (R324W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119212	NM_021819.3(LMAN1L):c.971G>A (p.Arg324Gln)	LMAN1L (R324Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3119213	NM_021819.3(LMAN1L):c.997G>A (p.Ala333Thr)	LMAN1L (A333T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344776	NM_021819.3(LMAN1L):c.1051G>A (p.Gly351Arg)	LMAN1L (G351R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534812	NM_021819.3(LMAN1L):c.1127A>G (p.Asn376Ser)	LMAN1L (N376S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2609928	NM_021819.3(LMAN1L):c.1192G>A (p.Glu398Lys)	LMAN1L (E398K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261829	NM_021819.3(LMAN1L):c.1213C>T (p.Arg405Cys)	LMAN1L (R405C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330150	NM_021819.3(LMAN1L):c.1214G>A (p.Arg405His)	LMAN1L (R405H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2263439	NM_021819.3(LMAN1L):c.1234G>A (p.Val412Ile)	LMAN1L (V412I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119202	NM_021819.3(LMAN1L):c.1313G>A (p.Arg438Gln)	LMAN1L (R438Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2313278	NM_021819.3(LMAN1L):c.1360C>A (p.Pro454Thr)	LMAN1L (P454T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239177	NM_021819.3(LMAN1L):c.1385A>G (p.Gln462Arg)	LMAN1L (Q462R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2529942	NM_021819.3(LMAN1L):c.1470C>A (p.Ser490Arg)	LMAN1L (S490R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2327450	NM_021819.3(LMAN1L):c.1487C>T (p.Ser496Phe)	LMAN1L (S496F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317394	NM_021819.3(LMAN1L):c.1532C>G (p.Ala511Gly)	LMAN1L (A511G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119205	NM_021819.3(LMAN1L):c.1555C>T (p.Pro519Ser)	LMAN1L (P519S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 40