"Ambry Genetics"[submitter] AND "LOC130000832"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2372762	NM_003114.5(SPAG1):c.1180G>A (p.Glu394Lys)	LOC130000832, SPAG1 (E394K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 849284	NM_003114.5(SPAG1):c.1193G>A (p.Arg398Gln)	LOC130000832, SPAG1 (R398Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28 +1 more	GConflicting classifications of pathogenicity
Select item 410994	NM_003114.5(SPAG1):c.1226C>G (p.Thr409Ser)	SPAG1, LOC130000832 (T409S)	Single nucleotide variant (missense variant)	SPAG1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1758672	NM_003114.5(SPAG1):c.1242G>C (p.Ala414=)	LOC130000832, SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 28 +1 more	GLikely benign
Select item 474649	NM_003114.5(SPAG1):c.1271CGG[6] (p.Ala428dup)	LOC130000832, SPAG1	Microsatellite (inframe_insertion)	Primary ciliary dyskinesia 28 +1 more	GUncertain significance
Select item 2159493	NM_003114.5(SPAG1):c.1271C>T (p.Ala424Val)	LOC130000832, SPAG1 (A424V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28 +1 more	GUncertain significance
Select item 1768804	NM_003114.5(SPAG1):c.1285_1294del (p.Gly429fs)	LOC130000832, SPAG1 (G429fs)	Microsatellite (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 2227993	NM_003114.5(SPAG1):c.1285G>C (p.Gly429Arg)	LOC130000832, SPAG1 (G429R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 569393	NM_003114.5(SPAG1):c.1307C>A (p.Pro436Gln)	SPAG1, LOC130000832 (P436Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28 +1 more	GUncertain significance
Select item 474651	NM_003114.5(SPAG1):c.1307C>T (p.Pro436Leu)	LOC130000832, SPAG1 (P436L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28 +2 more	GConflicting classifications of pathogenicity
Select item 2310566	NM_003114.5(SPAG1):c.1324G>C (p.Ala442Pro)	LOC130000832, SPAG1 (A442P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1769990	NM_003114.5(SPAG1):c.1325C>G (p.Ala442Gly)	LOC130000832, SPAG1 (A442G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 262801	NM_003114.5(SPAG1):c.1338C>G (p.Ala446=)	LOC130000832, SPAG1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1770504	NM_003114.5(SPAG1):c.1347G>A (p.Lys449=)	SPAG1, LOC130000832	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 242011	NM_003114.5(SPAG1):c.1360G>C (p.Glu454Gln)	LOC130000832, SPAG1 (E454Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1771174	NM_003114.5(SPAG1):c.1376G>A (p.Gly459Glu)	LOC130000832, SPAG1 (G459E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1018450	NM_003114.5(SPAG1):c.1406C>G (p.Ser469Trp)	LOC130000832, SPAG1 (S469W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 242012	NM_003114.5(SPAG1):c.1414A>G (p.Ile472Val)	LOC130000832, SPAG1 (I472V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign