Related gene-specific medical variations for Gene (Select 79987) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3172369	NM_153366.4(SVEP1):c.2994G>A (p.Met998Ile)	LOC132089633, SVEP1 (M998I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172368	NM_153366.4(SVEP1):c.2917A>G (p.Ile973Val)	LOC132089633, SVEP1 (I973V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3172367	NM_153366.4(SVEP1):c.2894T>C (p.Phe965Ser)	LOC132089633, SVEP1 (F965S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172354	NM_153366.4(SVEP1):c.10627G>A (p.Gly3543Ser)	LOC124310623, SVEP1 (G3543S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600631	NM_153366.4(SVEP1):c.2950G>T (p.Ala984Ser)	LOC132089633, SVEP1 (A984S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467027	NM_153366.4(SVEP1):c.2950G>C (p.Ala984Pro)	LOC132089633, SVEP1 (A984P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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