"Ambry Genetics"[submitter] AND "SAYSD1"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2545227	NM_018322.3(SAYSD1):c.548G>A (p.Arg183Lys)	SAYSD1 (R116K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334781	NM_018322.3(SAYSD1):c.528G>T (p.Gln176His)	SAYSD1 (Q109H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316233	NM_018322.3(SAYSD1):c.470C>T (p.Pro157Leu)	SAYSD1 (P90L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396391	NM_018322.3(SAYSD1):c.409G>A (p.Gly137Arg)	SAYSD1 (G137R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543503	NM_018322.3(SAYSD1):c.389T>C (p.Leu130Ser)	SAYSD1 (L63S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157975	NM_018322.3(SAYSD1):c.298A>G (p.Asn100Asp)	SAYSD1 (N100D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396105	NM_018322.3(SAYSD1):c.208G>A (p.Glu70Lys)	SAYSD1 (E3K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157974	NM_018322.3(SAYSD1):c.206A>T (p.Gln69Leu)	LOC129996373, SAYSD1 (Q69L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3157973	NM_018322.3(SAYSD1):c.193C>G (p.Pro65Ala)	LOC129996373, SAYSD1 (P65A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3316231	NM_018322.3(SAYSD1):c.171G>T (p.Arg57Ser)	LOC129996373, SAYSD1 (R57S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2548059	NM_018322.3(SAYSD1):c.149G>A (p.Arg50Gln)	LOC129996373, SAYSD1 (R50Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2355586	NM_018322.3(SAYSD1):c.125A>C (p.Lys42Thr)	LOC129996373, SAYSD1 (K42T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3316232	NM_018322.3(SAYSD1):c.85C>G (p.Gln29Glu)	LOC129996373, SAYSD1 (Q29E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3157977	NM_018322.3(SAYSD1):c.62C>T (p.Pro21Leu)	LOC129996373, SAYSD1 (P21L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2343889	NM_018322.3(SAYSD1):c.61C>A (p.Pro21Thr)	LOC129996373, SAYSD1 (P21T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2391035	NM_018322.3(SAYSD1):c.44C>A (p.Ala15Glu)	SAYSD1, LOC129996373 (A15E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2600455	NM_018322.3(SAYSD1):c.11G>A (p.Arg4Gln)	SAYSD1 (R4Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance