KYAT1-SPOUT1[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003109, LOC130003110 +1210 more	Copy number gain	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
Select item 150008	GRCh38/hg38 9q34.11(chr9:128236347-128912067)x1	CERCAM, COQ4 +70 more	Copy number loss	See cases	GPathogenic
Select item 149067	GRCh38/hg38 9q34.11(chr9:128610170-129368351)x1	CRAT, DOLK +72 more	Copy number loss	See cases	GUncertain significance
Select item 58499	GRCh38/hg38 9q34.11(chr9:128808545-129002107)x3	DOLK, ENDOG +16 more	Copy number gain	See cases	GUncertain significance
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 774205	NM_004435.2(ENDOG):c.654C>T (p.Ile218=)	ENDOG, KYAT1-SPOUT1 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 789304	NM_004435.2(ENDOG):c.734G>T (p.Arg245Leu)	ENDOG, KYAT1-SPOUT1 +1 more (R245L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 789305	NM_004435.2(ENDOG):c.737C>T (p.Thr246Ile)	ENDOG, KYAT1-SPOUT1 +1 more (T246I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 218639	NM_004435.2(ENDOG):c.889_892del (p.Lys297fs)	ENDOG, KYAT1-SPOUT1 +1 more (K297fs)	Deletion (frameshift variant +1 more)	not specified	GBenign
Select item 3059891	NM_016390.4(SPOUT1):c.1106T>C (p.Ile369Thr)	KYAT1-SPOUT1, SPOUT1 (I369T +1 more)	Single nucleotide variant (missense variant +1 more)	SPOUT1-related condition	GBenign
Select item 3041881	NM_016390.4(SPOUT1):c.1089C>G (p.Ala363=)	KYAT1-SPOUT1, SPOUT1	Single nucleotide variant (synonymous variant +1 more)	SPOUT1-related condition	GBenign
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 3034153	NM_016390.4(SPOUT1):c.1062+8C>T	KYAT1-SPOUT1, SPOUT1	Single nucleotide variant (intron variant)	SPOUT1-related condition	GLikely benign
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 3059826	NM_016390.4(SPOUT1):c.891C>T (p.Ala297=)	KYAT1-SPOUT1, SPOUT1	Single nucleotide variant (synonymous variant +1 more)	SPOUT1-related condition	GBenign
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 3039768	NM_016390.4(SPOUT1):c.534C>T (p.Pro178=)	KYAT1-SPOUT1, SPOUT1	Single nucleotide variant (synonymous variant +1 more)	SPOUT1-related condition	GLikely benign
Select item 3043525	NM_016390.4(SPOUT1):c.508+5C>T	KYAT1-SPOUT1, SPOUT1	Single nucleotide variant (intron variant)	SPOUT1-related condition	GLikely benign
Select item 3059446	NM_016390.4(SPOUT1):c.458+6G>C	KYAT1-SPOUT1, SPOUT1	Single nucleotide variant (intron variant)	SPOUT1-related condition	GBenign
Select item 3053485	NM_016390.4(SPOUT1):c.418G>A (p.Val140Ile)	KYAT1-SPOUT1, SPOUT1 (V140I +1 more)	Single nucleotide variant (missense variant +1 more)	SPOUT1-related condition	GBenign
Select item 3059239	NM_016390.4(SPOUT1):c.389C>G (p.Thr130Arg)	KYAT1-SPOUT1, SPOUT1 (T130R +1 more)	Single nucleotide variant (missense variant +1 more)	SPOUT1-related condition	GBenign
Select item 3038672	NM_016390.4(SPOUT1):c.369-15TC[5]	KYAT1-SPOUT1, SPOUT1	Microsatellite (intron variant)	SPOUT1-related condition	GLikely benign
Select item 1050764	NM_016390.4(SPOUT1):c.366C>G (p.Ala122=)	KYAT1-SPOUT1, SPOUT1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3041960	NM_016390.4(SPOUT1):c.270G>A (p.Pro90=)	KYAT1-SPOUT1, SPOUT1	Single nucleotide variant (synonymous variant +1 more)	SPOUT1-related condition	GBenign
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 547051	NM_016390.4(SPOUT1):c.256A>G (p.Asn86Asp)	KYAT1-SPOUT1, SPOUT1 (N86D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 771736	NM_016390.4(SPOUT1):c.189G>A (p.Ala63=)	KYAT1-SPOUT1, SPOUT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 547052	NM_016390.3(SPOUT1):c.102dup (p.Trp35Metfs)	KYAT1-SPOUT1, SPOUT1 (W35fs)	Duplication (frameshift variant)	SPOUT1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2659549	NM_016390.4(SPOUT1):c.91G>A (p.Glu31Lys)	KYAT1-SPOUT1, SPOUT1 (E31K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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
Select item 2254305	NM_004059.5(KYAT1):c.1180G>A (p.Asp394Asn)	KYAT1, KYAT1-SPOUT1 (D344N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206665	NM_004059.5(KYAT1):c.1154A>T (p.Tyr385Phe)	KYAT1, KYAT1-SPOUT1 (Y419F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358179	NM_004059.5(KYAT1):c.1138C>T (p.Pro380Ser)	KYAT1, KYAT1-SPOUT1 (P322S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117205	NM_004059.5(KYAT1):c.1045A>G (p.Arg349Gly)	KYAT1, KYAT1-SPOUT1 (R383G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235934	NM_004059.5(KYAT1):c.949C>T (p.Arg317Cys)	KYAT1, KYAT1-SPOUT1 (R259C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243659	NM_004059.5(KYAT1):c.551A>G (p.Asn184Ser)	KYAT1, KYAT1-SPOUT1 (N134S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402429	NM_004059.5(KYAT1):c.515C>G (p.Thr172Arg)	KYAT1, KYAT1-SPOUT1 (T122R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225521	NM_004059.5(KYAT1):c.505G>A (p.Gly169Ser)	KYAT1, KYAT1-SPOUT1 (G111S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2243658	NM_004059.5(KYAT1):c.242G>C (p.Gly81Ala)	KYAT1, KYAT1-SPOUT1 (G174A +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 148707	GRCh38/hg38 9q34.11-34.12(chr9:128839676-130912873)x3	ABL1, ASB6 +179 more	Copy number gain	See cases	GUncertain significance
Select item 782286	NM_004059.5(KYAT1):c.-6-2041C>T	KYAT1, KYAT1-SPOUT1 (T26I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign

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Items: 65