25032[HGNC] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 59969	GRCh38/hg38 1p32.3(chr1:54207426-54756958)x1	ACOT11, FAM151A +25 more	Copy number loss	See cases	GPathogenic
Select item 2373373	NM_176782.3(FAM151A):c.1744G>A (p.Val582Ile)	ACOT11, FAM151A (V582I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3091911	NM_176782.3(FAM151A):c.1732T>G (p.Leu578Val)	ACOT11, FAM151A (L578V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2395857	NM_176782.3(FAM151A):c.1694G>A (p.Arg565Gln)	ACOT11, FAM151A (R565Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2304327	NM_176782.3(FAM151A):c.1618G>A (p.Glu540Lys)	ACOT11, FAM151A (E540K)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 719938	NM_176782.3(FAM151A):c.1600C>G (p.Arg534Gly)	ACOT11, FAM151A (R534G)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3091910	NM_176782.3(FAM151A):c.1598C>A (p.Pro533His)	ACOT11, FAM151A (P533H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3277198	NM_176782.3(FAM151A):c.1462G>A (p.Gly488Ser)	ACOT11, FAM151A (G488S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2295787	NM_176782.3(FAM151A):c.1448A>G (p.Glu483Gly)	ACOT11, FAM151A (E483G)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2470518	NM_176782.3(FAM151A):c.1417C>G (p.His473Asp)	ACOT11, FAM151A (H473D)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3091909	NM_176782.3(FAM151A):c.1408G>T (p.Val470Phe)	ACOT11, FAM151A (V470F)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2522982	NM_176782.3(FAM151A):c.1342T>C (p.Ser448Pro)	ACOT11, FAM151A (S448P)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3091908	NM_176782.3(FAM151A):c.1339A>T (p.Ile447Phe)	ACOT11, FAM151A (I447F)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2407710	NM_176782.3(FAM151A):c.1337A>G (p.Lys446Arg)	ACOT11, FAM151A (K446R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2222005	NM_176782.3(FAM151A):c.1313A>C (p.His438Pro)	ACOT11, FAM151A (H438P)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2296849	NM_176782.3(FAM151A):c.1289G>A (p.Arg430His)	ACOT11, FAM151A (R430H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3277195	NM_176782.3(FAM151A):c.1274T>G (p.Leu425Arg)	ACOT11, FAM151A (L425R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2278430	NM_176782.3(FAM151A):c.1255G>A (p.Ala419Thr)	ACOT11, FAM151A (A419T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 1291889	NM_176782.3(FAM151A):c.1247C>T (p.Ala416Val)	ACOT11, FAM151A (A416V)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 3091907	NM_176782.3(FAM151A):c.1219G>A (p.Gly407Arg)	ACOT11, FAM151A (G407R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2342647	NM_176782.3(FAM151A):c.1181C>T (p.Thr394Met)	ACOT11, FAM151A (T394M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2488732	NM_176782.3(FAM151A):c.1175T>A (p.Ile392Asn)	ACOT11, FAM151A (I392N)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2312886	NM_176782.3(FAM151A):c.1144G>A (p.Val382Met)	ACOT11, FAM151A (V382M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2232615	NM_176782.3(FAM151A):c.1112C>T (p.Thr371Ile)	ACOT11, FAM151A (T371I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3091906	NM_176782.3(FAM151A):c.1082C>T (p.Pro361Leu)	ACOT11, FAM151A (P361L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235369	NM_176782.3(FAM151A):c.1079T>A (p.Leu360His)	ACOT11, FAM151A (L360H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277196	NM_176782.3(FAM151A):c.1057G>A (p.Gly353Ser)	ACOT11, FAM151A (G353S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773109	NM_176782.3(FAM151A):c.1003_1031del (p.Pro335fs)	ACOT11, FAM151A (P335fs)	Deletion (frameshift variant +1 more)	not provided	GBenign
Select item 782377	NM_176782.3(FAM151A):c.1014C>T (p.Asp338=)	ACOT11, FAM151A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2291730	NM_176782.3(FAM151A):c.986T>C (p.Ile329Thr)	ACOT11, FAM151A (I329T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296251	NM_176782.3(FAM151A):c.962T>A (p.Met321Lys)	ACOT11, FAM151A (M321K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091919	NM_176782.3(FAM151A):c.952C>T (p.Arg318Trp)	ACOT11, FAM151A (R318W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1254334	NM_015547.4(ACOT11):c.1629+2689A>G	ACOT11, FAM151A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2554602	NM_176782.3(FAM151A):c.932A>G (p.Gln311Arg)	ACOT11, FAM151A (Q311R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091918	NM_176782.3(FAM151A):c.832G>C (p.Asp278His)	ACOT11, FAM151A (D278H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 767671	NM_176782.3(FAM151A):c.818G>A (p.Trp273Ter)	ACOT11, FAM151A (W273*)	Single nucleotide variant (nonsense +1 more)	not provided	GBenign
Select item 2358740	NM_176782.3(FAM151A):c.749T>C (p.Met250Thr)	ACOT11, FAM151A (M250T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091917	NM_176782.3(FAM151A):c.704T>C (p.Val235Ala)	ACOT11, FAM151A (V235A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786990	NM_176782.3(FAM151A):c.649A>C (p.Thr217Pro)	ACOT11, FAM151A (T217P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 720896	NM_176782.3(FAM151A):c.573dup (p.Gln192fs)	ACOT11, FAM151A (Q192fs)	Duplication (frameshift variant +1 more)	not provided	GLikely benign
Select item 3091916	NM_176782.3(FAM151A):c.544A>C (p.Met182Leu)	ACOT11, FAM151A (M182L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091914	NM_176782.3(FAM151A):c.542A>G (p.Asn181Ser)	ACOT11, FAM151A (N181S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513077	NM_176782.3(FAM151A):c.503G>A (p.Arg168Gln)	ACOT11, FAM151A (R168Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277199	NM_176782.3(FAM151A):c.499C>T (p.Arg167Trp)	ACOT11, FAM151A (R167W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340484	NM_176782.3(FAM151A):c.485A>G (p.Glu162Gly)	ACOT11, FAM151A (E162G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492877	NM_176782.3(FAM151A):c.448G>C (p.Val150Leu)	ACOT11, FAM151A (V150L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277193	NM_176782.3(FAM151A):c.443A>G (p.Lys148Arg)	ACOT11, FAM151A (K148R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479426	NM_176782.3(FAM151A):c.374T>G (p.Leu125Arg)	ACOT11, FAM151A (L125R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 728791	NM_176782.3(FAM151A):c.351dup (p.Thr118fs)	ACOT11, FAM151A (T118fs)	Duplication (frameshift variant +1 more)	not provided	GLikely benign
Select item 2246482	NM_176782.3(FAM151A):c.350C>A (p.Pro117His)	ACOT11, FAM151A (P117H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254335	NM_176782.3(FAM151A):c.335T>A (p.Ile112Asn)	ACOT11, FAM151A (I112N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247908	NM_176782.3(FAM151A):c.329T>G (p.Val110Gly)	ACOT11, FAM151A (V110G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267852	NM_176782.3(FAM151A):c.316A>C (p.Asn106His)	ACOT11, FAM151A (N106H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277194	NM_176782.3(FAM151A):c.307G>A (p.Gly103Ser)	ACOT11, FAM151A (G103S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091913	NM_176782.3(FAM151A):c.289G>A (p.Val97Ile)	ACOT11, FAM151A (V97I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780769	NM_176782.3(FAM151A):c.267C>G (p.Asn89Lys)	ACOT11, FAM151A (N89K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3091912	NM_176782.3(FAM151A):c.235A>C (p.Lys79Gln)	ACOT11, FAM151A (K79Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2588577	NM_176782.3(FAM151A):c.223G>A (p.Ala75Thr)	ACOT11, FAM151A (A75T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 711839	NM_176782.3(FAM151A):c.194G>A (p.Arg65Gln)	ACOT11, FAM151A (R65Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 779397	NM_176782.3(FAM151A):c.151G>A (p.Asp51Asn)	ACOT11, FAM151A (D51N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2612742	NM_176782.3(FAM151A):c.148G>A (p.Ala50Thr)	ACOT11, FAM151A (A50T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 767672	NM_176782.3(FAM151A):c.123T>C (p.Cys41=)	ACOT11, FAM151A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2279921	NM_176782.3(FAM151A):c.110G>A (p.Arg37Gln)	ACOT11, FAM151A (R37Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3277201	NM_176782.3(FAM151A):c.104C>G (p.Thr35Ser)	ACOT11, FAM151A (T35S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462481	NM_176782.3(FAM151A):c.89T>C (p.Ile30Thr)	ACOT11, FAM151A (I30T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3277197	NM_176782.3(FAM151A):c.64G>A (p.Val22Met)	ACOT11, FAM151A (V22M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408852	NM_176782.3(FAM151A):c.40T>A (p.Trp14Arg)	ACOT11, FAM151A (W14R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607091	NM_176782.3(FAM151A):c.18G>T (p.Gln6His)	ACOT11, FAM151A (Q6H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685806	GRCh37/hg19 1p32.3(chr1:54898794-55112677)x3	MROH7, ACOT11 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1047872	GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514)	CYB5RL, EPS15 +49 more	Copy number loss	Abnormality of the kidney +1 more	GPathogenic
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	L1TD1, LDLRAD1 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 979902	GRCh37/hg19 1p32.3(chr1:55036105-55274639)x3	ACOT11, TTC4 +5 more	Copy number gain	not provided	GLikely benign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565100	GRCh37/hg19 1p32.3(chr1:55038842-55347867)x3	MROH7, ACOT11 +6 more	Copy number gain	not provided	GLikely benign
Select item 565099	GRCh37/hg19 1p32.3(chr1:55036657-55800829)x3	ACOT11, BSND +10 more	Copy number gain	not provided	GUncertain significance
Select item 565098	GRCh37/hg19 1p32.3(chr1:54575439-55381546)x1	MRPL37, TTC22 +10 more	Copy number loss	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394094	GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1	LRP8, LRRC42 +42 more	Copy number loss	See cases	GPathogenic

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Items: 85