ClinVar for Gene (Select 107105282) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3158741	NM_002980.3(SCTR):c.269C>T (p.Pro90Leu)	SCTR, SCTR-AS1 (P90L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158740	NM_002980.3(SCTR):c.197G>C (p.Cys66Ser)	SCTR, SCTR-AS1 (C66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536989	NM_002980.3(SCTR):c.248G>A (p.Arg83Gln)	SCTR, SCTR-AS1 (R83Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2405131	NM_002980.3(SCTR):c.242C>T (p.Pro81Leu)	SCTR, SCTR-AS1 (P81L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2347566	NM_002980.3(SCTR):c.247C>T (p.Arg83Trp)	SCTR, SCTR-AS1 (R83W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326980	NM_002980.3(SCTR):c.213C>A (p.Asp71Glu)	SCTR, SCTR-AS1 (D71E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155658	GRCh38/hg38 2q14.2-14.3(chr2:118687829-121621814)x1	C1QL2, C2orf76 +92 more	Copy number loss	See cases	GPathogenic
Select item 153085	GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1	AMMECR1L, BIN1 +254 more	Copy number loss	See cases	GPathogenic
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic

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