Related gene-specific medical variations for Gene (Select 1486) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270020	NM_004388.3(CTBS):c.998C>G (p.Pro333Arg)	CTBS, SPATA1 (P333R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270019	NM_004388.3(CTBS):c.617T>C (p.Val206Ala)	CTBS, SPATA1 (V206A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3078550	NM_004388.3(CTBS):c.739C>T (p.Leu247Phe)	CTBS, SPATA1 (L247F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078549	NM_004388.3(CTBS):c.695C>A (p.Thr232Asn)	CTBS, SPATA1 (T232N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638903	NM_004388.3(CTBS):c.812T>C (p.Ile271Thr)	CTBS, SPATA1 (I271T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2602572	NM_004388.3(CTBS):c.169G>C (p.Asp57His)	CTBS, LOC129930843 (D57H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564091	NM_004388.3(CTBS):c.859C>T (p.Arg287Cys)	CTBS, SPATA1 (R287C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536681	NM_004388.3(CTBS):c.799C>G (p.His267Asp)	CTBS, SPATA1 (H267D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474624	NM_004388.3(CTBS):c.1091A>G (p.Asp364Gly)	CTBS, SPATA1 (D364G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400150	NM_004388.3(CTBS):c.716A>G (p.Lys239Arg)	CTBS, SPATA1 (K239R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398100	NM_004388.3(CTBS):c.865G>A (p.Val289Met)	CTBS, SPATA1 (V289M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322132	NM_004388.3(CTBS):c.827T>C (p.Phe276Ser)	CTBS, SPATA1 (F276S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284856	NM_004388.3(CTBS):c.776C>A (p.Thr259Asn)	CTBS, SPATA1 (T259N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 723110	NM_004388.3(CTBS):c.1045C>T (p.Arg349Trp)	CTBS, SPATA1 (R349W)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 718265	NM_004388.3(CTBS):c.1071C>T (p.Asn357=)	CTBS, SPATA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign