"PreventionGenetics, part of Exact Sciences"[submitter] AND "LHFPL5"[g - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3052657	NM_182548.4(LHFPL5):c.144C>T (p.Tyr48=)	LHFPL5	Single nucleotide variant (synonymous variant)	LHFPL5-related condition	GLikely benign
Select item 1331317	NM_182548.4(LHFPL5):c.395G>A (p.Trp132Ter)	LHFPL5 (W132*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 227500	NM_182548.4(LHFPL5):c.411G>A (p.Ala137=)	LHFPL5	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3050800	NM_182548.4(LHFPL5):c.446C>T (p.Pro149Leu)	LHFPL5 (P149L)	Single nucleotide variant (missense variant)	LHFPL5-related condition	GUncertain significance
Select item 262996	NM_182548.4(LHFPL5):c.474G>A (p.Arg158=)	LHFPL5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 163857	NM_182548.4(LHFPL5):c.476G>A (p.Arg159His)	LHFPL5 (R159H)	Single nucleotide variant (missense variant)	LHFPL5-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1697	NM_182548.4(LHFPL5):c.494C>T (p.Thr165Met)	LHFPL5 (T165M)	Single nucleotide variant (missense variant)	LHFPL5-related condition	GUncertain significance
Select item 1204094	NM_182548.4(LHFPL5):c.507G>A (p.Thr169=)	LHFPL5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 163858	NM_182548.4(LHFPL5):c.615G>C (p.Lys205Asn)	LHFPL5 (K205N)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign