"PreventionGenetics, part of Exact Sciences"[submitter] AND "MLPH"[gen - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 723824	NM_024101.7(MLPH):c.39A>G (p.Glu13=)	MLPH	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 778284	NM_024101.7(MLPH):c.132G>A (p.Lys44=)	MLPH	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2716758	NM_024101.7(MLPH):c.336C>T (p.Val112=)	MLPH	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 752996	NM_024101.7(MLPH):c.345C>T (p.Ile115=)	MLPH	Single nucleotide variant (synonymous variant +1 more)	MLPH-related disorder +1 more	GLikely benign
Select item 733682	NM_024101.7(MLPH):c.372T>C (p.His124=)	MLPH	Single nucleotide variant (synonymous variant +1 more)	MLPH-related disorder +1 more	GBenign/Likely benign
Select item 728022	NM_024101.7(MLPH):c.522G>A (p.Glu174=)	MLPH	Single nucleotide variant (synonymous variant +1 more)	Griscelli syndrome type 3 +2 more	GBenign/Likely benign
Select item 3055459	NM_024101.7(MLPH):c.738G>A (p.Glu246=)	MLPH	Single nucleotide variant (synonymous variant +2 more)	MLPH-related disorder	GLikely benign
Select item 2223892	NM_024101.7(MLPH):c.833C>T (p.Pro278Leu)	MLPH (P238L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 435877	NM_024101.7(MLPH):c.880+10del	MLPH	Deletion (intron variant)	MLPH-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 451506	NM_024101.7(MLPH):c.1142AGG[2] (p.Glu383del)	MLPH (E383del +3 more)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1528887	NM_024101.7(MLPH):c.1351C>T (p.Pro451Ser)	MLPH (P308S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 2633999	NM_024101.7(MLPH):c.1378G>A (p.Glu460Lys)	MLPH (E317K +2 more)	Single nucleotide variant (missense variant +2 more)	MLPH-related disorder	GUncertain significance
Select item 435878	NM_024101.7(MLPH):c.1416G>A (p.Thr472=)	MLPH	Single nucleotide variant (synonymous variant +2 more)	MLPH-related disorder +2 more	GBenign/Likely benign
Select item 2044144	NM_024101.7(MLPH):c.1497G>C (p.Thr499=)	MLPH	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 775835	NM_024101.7(MLPH):c.1508C>T (p.Ser503Leu)	MLPH (S360L +3 more)	Single nucleotide variant (missense variant +1 more)	MLPH-related disorder +2 more	GBenign
Select item 2222959	NM_024101.7(MLPH):c.1552C>G (p.Arg518Gly)	MLPH (R490G +3 more)	Single nucleotide variant (missense variant +1 more)	Griscelli syndrome type 3 +2 more	GUncertain significance
Select item 1337080	NM_024101.7(MLPH):c.1745C>T (p.Ala582Val)	MLPH (A439V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 770135	NM_024101.7(MLPH):c.1773C>T (p.Phe591=)	MLPH	Single nucleotide variant (synonymous variant +1 more)	MLPH-related disorder +1 more	GBenign
Select item 1601700	NM_024101.7(MLPH):c.1776+10del	MLPH	Deletion (intron variant)	MLPH-related disorder +1 more	GBenign/Likely benign