SMAP1[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320665	NM_001044305.3(SMAP1):c.80A>C (p.Glu27Ala)	SMAP1 (E27A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320667	NM_001044305.3(SMAP1):c.289C>T (p.Leu97Phe)	SMAP1 (L87F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387778	NM_001044305.3(SMAP1):c.302A>G (p.Asn101Ser)	SMAP1 (N101S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320666	NM_001044305.3(SMAP1):c.363T>G (p.Asp121Glu)	SMAP1 (D121E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609725	NM_001044305.3(SMAP1):c.403G>A (p.Ala135Thr)	SMAP1 (A125T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320662	NM_001044305.3(SMAP1):c.424T>C (p.Ser142Pro)	SMAP1 (S142P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166263	NM_001044305.3(SMAP1):c.506A>G (p.Glu169Gly)	SMAP1 (E142G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320661	NM_001044305.3(SMAP1):c.551C>T (p.Pro184Leu)	SMAP1 (P174L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320663	NM_001044305.3(SMAP1):c.599T>C (p.Leu200Pro)	SMAP1 (L200P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1297961	NM_001044305.3(SMAP1):c.635C>T (p.Ala212Val)	SMAP1 (A185V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2656690	NM_001044305.3(SMAP1):c.720C>T (p.Asn240=)	SMAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1527251	GRCh37/hg19 6q13(chr6:71425270-71517842)	SMAP1	Copy number loss	not specified	GUncertain significance