"Ambry Genetics"[submitter] AND "LEMD2"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2486416	NM_181336.4(LEMD2):c.1502C>T (p.Ser501Leu)	LEMD2 (S501L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308600	NM_181336.4(LEMD2):c.1430C>T (p.Thr477Met)	LEMD2 (T344M +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2329021	NM_181336.4(LEMD2):c.1366C>T (p.Arg456Cys)	LEMD2 (R456C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350653	NM_181336.4(LEMD2):c.1199G>A (p.Arg400Gln)	LEMD2 (R400Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290454	NM_181336.4(LEMD2):c.1055A>G (p.Lys352Arg)	LEMD2 (K219R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118338	NM_181336.4(LEMD2):c.1000G>A (p.Val334Met)	LEMD2 (V201M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242920	NM_181336.4(LEMD2):c.960T>G (p.Phe320Leu)	LEMD2 (F18L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217937	NM_181336.4(LEMD2):c.881A>G (p.Asn294Ser)	LEMD2 (N161S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3118342	NM_181336.4(LEMD2):c.830A>G (p.Tyr277Cys)	LEMD2 (Y277C +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2469413	NM_181336.4(LEMD2):c.807G>T (p.Leu269Phe)	LEMD2 (L269F +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2300164	NM_181336.4(LEMD2):c.602A>C (p.Glu201Ala)	LEMD2 (E201A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290451	NM_181336.4(LEMD2):c.584C>G (p.Ala195Gly)	LEMD2 (A195G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253540	NM_181336.4(LEMD2):c.533G>A (p.Gly178Asp)	LEMD2 (G178D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219857	NM_181336.4(LEMD2):c.526C>T (p.Leu176Phe)	LEMD2 (L176F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364300	NM_181336.4(LEMD2):c.506C>T (p.Pro169Leu)	LEMD2 (P169L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118340	NM_181336.4(LEMD2):c.421G>A (p.Glu141Lys)	LEMD2 (E141K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393588	NM_181336.4(LEMD2):c.337T>C (p.Ser113Pro)	LEMD2 (S113P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2600157	NM_181336.4(LEMD2):c.244T>G (p.Ser82Ala)	LEMD2, LOC129996186 (S82A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3290450	NM_181336.4(LEMD2):c.239C>T (p.Ala80Val)	LEMD2, LOC129996186 (A80V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3290452	NM_181336.4(LEMD2):c.200G>C (p.Arg67Pro)	LEMD2, LOC129996186 (R67P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3290453	NM_181336.4(LEMD2):c.188G>T (p.Arg63Leu)	LEMD2, LOC129996186 (R63L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3118339	NM_181336.4(LEMD2):c.139G>A (p.Glu47Lys)	LEMD2, LOC129996186 (E47K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2605454	NM_181336.4(LEMD2):c.85G>C (p.Asp29His)	LEMD2, LOC129996186 (D29H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2286529	NM_181336.4(LEMD2):c.65C>T (p.Pro22Leu)	LEMD2, LOC129996186 (P22L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2388158	NM_181336.4(LEMD2):c.54C>A (p.Phe18Leu)	LEMD2, LOC129996186 (F18L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance

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Items: 25