SMPD2[gene] and "single gene"[properties] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2251082	NM_003080.3(SMPD2):c.75C>G (p.His25Gln)	SMPD2 (H25Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350978	NM_003080.3(SMPD2):c.130C>G (p.Leu44Val)	SMPD2 (L44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488603	NM_003080.3(SMPD2):c.268A>G (p.Ile90Val)	SMPD2 (I90V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607478	NM_003080.3(SMPD2):c.394G>A (p.Ala132Thr)	SMPD2 (A132T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166645	NM_003080.3(SMPD2):c.514G>A (p.Val172Met)	SMPD2 (V172M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733350	NM_003080.3(SMPD2):c.570G>C (p.Leu190=)	SMPD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2264747	NM_003080.3(SMPD2):c.593A>G (p.His198Arg)	SMPD2 (H198R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3321014	NM_003080.3(SMPD2):c.625G>A (p.Gly209Ser)	SMPD2 (G209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605034	NM_003080.3(SMPD2):c.668T>C (p.Val223Ala)	SMPD2 (V223A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166646	NM_003080.3(SMPD2):c.671G>C (p.Ser224Thr)	SMPD2 (S224T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592766	NM_003080.3(SMPD2):c.788C>T (p.Pro263Leu)	SMPD2 (P263L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166648	NM_003080.3(SMPD2):c.809C>G (p.Ser270Cys)	SMPD2 (S270C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390758	NM_003080.3(SMPD2):c.823C>A (p.Leu275Met)	SMPD2 (L275M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277102	NM_003080.3(SMPD2):c.826A>G (p.Met276Val)	SMPD2 (M276V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379848	NM_003080.3(SMPD2):c.857C>A (p.Pro286Gln)	SMPD2 (P286Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335397	NM_003080.3(SMPD2):c.902C>T (p.Pro301Leu)	SMPD2 (P301L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321015	NM_003080.3(SMPD2):c.919A>C (p.Lys307Gln)	SMPD2 (K307Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622939	NM_003080.3(SMPD2):c.925G>A (p.Ala309Thr)	SMPD2 (A309T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472366	NM_003080.3(SMPD2):c.946G>C (p.Gly316Arg)	SMPD2 (G316R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403325	NM_003080.3(SMPD2):c.980C>T (p.Ala327Val)	SMPD2 (A327V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740187	NM_003080.3(SMPD2):c.1050C>T (p.Ala350=)	SMPD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3166644	NM_003080.3(SMPD2):c.1076C>T (p.Thr359Ile)	SMPD2 (T359I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321016	NM_003080.3(SMPD2):c.1103C>T (p.Ala368Val)	SMPD2 (A368V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454642	NM_003080.3(SMPD2):c.1108G>A (p.Ala370Thr)	SMPD2 (A370T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492769	NM_003080.3(SMPD2):c.1171C>T (p.His391Tyr)	SMPD2 (H391Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386319	NM_003080.3(SMPD2):c.1187C>T (p.Ala396Val)	SMPD2 (A396V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489662	NM_003080.3(SMPD2):c.1208G>A (p.Gly403Asp)	SMPD2 (G403D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 27