"Ambry Genetics"[submitter] AND "SPOUT1"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3088843	NM_004435.2(ENDOG):c.511C>T (p.Leu171Phe)	ENDOG, KYAT1-SPOUT1 +1 more (L171F)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2471708	NM_004435.2(ENDOG):c.536T>C (p.Leu179Pro)	ENDOG, KYAT1-SPOUT1 +1 more (L179P)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2462773	NM_004435.2(ENDOG):c.550C>T (p.Arg184Cys)	ENDOG, KYAT1-SPOUT1 +1 more (R184C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2479810	NM_004435.2(ENDOG):c.577G>A (p.Val193Ile)	ENDOG, KYAT1-SPOUT1 +1 more (V193I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3088844	NM_004435.2(ENDOG):c.648G>C (p.Gln216His)	ENDOG, KYAT1-SPOUT1 +1 more (Q216H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2395978	NM_004435.2(ENDOG):c.728A>G (p.Glu243Gly)	ENDOG, KYAT1-SPOUT1 +1 more (E243G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088845	NM_004435.2(ENDOG):c.757C>T (p.Pro253Ser)	ENDOG, KYAT1-SPOUT1 +1 more (P253S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2345090	NM_004435.2(ENDOG):c.784C>T (p.Arg262Cys)	ENDOG, KYAT1-SPOUT1 +1 more (R262C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088846	NM_004435.2(ENDOG):c.785G>A (p.Arg262His)	ENDOG, KYAT1-SPOUT1 +1 more (R262H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2351459	NM_004435.2(ENDOG):c.821C>T (p.Ser274Leu)	ENDOG, KYAT1-SPOUT1 +1 more (S274L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391177	NM_004435.2(ENDOG):c.854G>A (p.Arg285Gln)	ENDOG, KYAT1-SPOUT1 +1 more (R285Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259029	NM_016390.4(SPOUT1):c.1070T>C (p.Ile357Thr)	KYAT1-SPOUT1, SPOUT1 (I357T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243683	NM_016390.4(SPOUT1):c.1028G>C (p.Cys343Ser)	KYAT1-SPOUT1, SPOUT1 (C343S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274948	NM_016390.4(SPOUT1):c.598C>T (p.Arg200Trp)	KYAT1-SPOUT1, SPOUT1 (R200W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246665	NM_016390.4(SPOUT1):c.263A>T (p.Gln88Leu)	KYAT1-SPOUT1, SPOUT1 (Q537L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355368	NM_016390.4(SPOUT1):c.35C>G (p.Pro12Arg)	KYAT1-SPOUT1, SPOUT1 (P12R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance