"Ambry Genetics"[submitter] AND "LEMD1"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3118337	NM_001199050.2(LEMD1):c.520G>A (p.Val174Met)	LEMD1, LEMD1-AS1 (V133M +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3118336	NM_001199050.2(LEMD1):c.414C>T (p.Cys138=)	LEMD1, LEMD1-AS1 (A50V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3118335	NM_001199050.2(LEMD1):c.380C>T (p.Thr127Ile)	LEMD1, LEMD1-AS1 (H39Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263142	NM_001199050.2(LEMD1):c.232A>G (p.Ile78Val)	LEMD1 (I78V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264674	NM_001199050.2(LEMD1):c.212A>C (p.Asn71Thr)	LEMD1 (N71T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290448	NM_001199050.2(LEMD1):c.211A>G (p.Asn71Asp)	LEMD1 (N30D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403889	NM_001199050.2(LEMD1):c.198C>A (p.Asp66Glu)	LEMD1 (D66E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411298	NM_001199050.2(LEMD1):c.156G>A (p.Met52Ile)	LEMD1 (M52I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235591	NM_001199050.2(LEMD1):c.154A>G (p.Met52Val)	LEMD1 (M52V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262304	NM_001199050.2(LEMD1):c.151G>C (p.Val51Leu)	LEMD1 (V51L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290447	NM_001199050.2(LEMD1):c.149C>A (p.Pro50His)	LEMD1 (P50H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118334	NM_001199050.2(LEMD1):c.101A>G (p.Tyr34Cys)	LEMD1 (Y34C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290449	NM_001199050.2(LEMD1):c.49G>A (p.Glu17Lys)	LEMD1 (E17K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491288	NM_001199050.2(LEMD1):c.25G>A (p.Asp9Asn)	LEMD1 (D9N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance