"Ambry Genetics"[submitter] AND "SPAG5-AS1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2527373	NM_001174103.2(RSKR):c.991C>A (p.Leu331Ile)	RSKR, SPAG5-AS1 (L331I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611540	NM_001174103.2(RSKR):c.938T>G (p.Leu313Trp)	RSKR, SPAG5-AS1 (L313W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488544	NM_001174103.2(RSKR):c.914C>T (p.Ala305Val)	RSKR, SPAG5-AS1 (A305V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463273	NM_001174103.2(RSKR):c.886C>A (p.Leu296Met)	LOC126862524, RSKR +1 more (L296M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513391	NM_001174103.2(RSKR):c.832G>C (p.Gly278Arg)	LOC126862524, RSKR +1 more (G278R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623820	NM_001174103.2(RSKR):c.764C>G (p.Pro255Arg)	LOC126862524, RSKR +1 more (P255R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515742	NM_001174103.2(RSKR):c.755G>A (p.Arg252His)	LOC126862524, RSKR +1 more (R252H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2565298	NM_001174103.2(RSKR):c.506G>A (p.Ser169Asn)	RSKR, SPAG5-AS1 (S169N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611900	NM_001174103.2(RSKR):c.364C>A (p.Leu122Ile)	RSKR, SPAG5-AS1 (L122I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535690	NM_014680.5(BLTP2):c.6440G>T (p.Cys2147Phe)	BLTP2, SPAG5-AS1 (C1472F +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555966	NM_014680.5(BLTP2):c.5897A>G (p.Asn1966Ser)	BLTP2, SPAG5-AS1 (N1965S +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance