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

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2323604	NM_001098169.2(BSX):c.694G>C (p.Val232Leu)	BSX (V232L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768492	NM_001098169.2(BSX):c.693C>A (p.His231Gln)	BSX (H231Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 716976	NM_001098169.2(BSX):c.690G>T (p.Pro230=)	BSX	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 932662	NM_001098169.2(BSX):c.669G>A (p.Glu223=)	BSX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2598259	NM_001098169.2(BSX):c.667G>C (p.Glu223Gln)	BSX (E223Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249296	NM_001098169.2(BSX):c.656A>G (p.Asp219Gly)	BSX (D219G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329240	NM_001098169.2(BSX):c.611T>C (p.Leu204Pro)	BSX (L204P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256744	NM_001098169.2(BSX):c.595G>A (p.Glu199Lys)	BSX (E199K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605587	NM_001098169.2(BSX):c.568C>T (p.Arg190Cys)	BSX (R190C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524402	NM_001098169.2(BSX):c.566C>G (p.Pro189Arg)	BSX (P189R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357521	NM_001098169.2(BSX):c.536C>T (p.Pro179Leu)	BSX (P179L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135340	NM_001098169.2(BSX):c.520G>A (p.Asp174Asn)	BSX (D174N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323723	NM_001098169.2(BSX):c.503A>C (p.Gln168Pro)	BSX (Q168P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727705	NM_001098169.2(BSX):c.450C>T (p.Ser150=)	BSX	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3135339	NM_001098169.2(BSX):c.170C>T (p.Pro57Leu)	BSX (P57L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135338	NM_001098169.2(BSX):c.170C>A (p.Pro57His)	BSX (P57H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261969	NM_001098169.2(BSX):c.121T>C (p.Phe41Leu)	BSX (F41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205054	NM_001098169.2(BSX):c.32C>T (p.Pro11Leu)	BSX (P11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance