CHKA[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic
Select item 58893	GRCh38/hg38 11q13.2(chr11:67446153-68679073)x1	ACY3, AIP +98 more	Copy number loss	See cases	GPathogenic
Select item 153941	GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1	ACTE1P, ANO1 +184 more	Copy number loss	See cases	GLikely pathogenic
Select item 2642028	NM_001277.3(CHKA):c.1290T>C (p.Ile430=)	CHKA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2207692	NM_001277.3(CHKA):c.1153G>A (p.Ala385Thr)	CHKA (A395T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1325848	NM_001277.3(CHKA):c.1021T>C (p.Phe341Leu)	CHKA (F201L +5 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures +3 more	GLikely pathogenic
Select item 2260850	NM_001277.3(CHKA):c.976C>A (p.Leu326Met)	CHKA (L204M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267034	NM_001277.3(CHKA):c.862A>T (p.Asn288Tyr)	CHKA (N288Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330379	NM_001277.3(CHKA):c.842A>G (p.Asn281Ser)	CHKA (N141S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395692	NM_001277.3(CHKA):c.813T>G (p.Ile271Met)	CHKA (I253M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549888	NM_001277.3(CHKA):c.720G>C (p.Met240Ile)	CHKA (M118I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2920790	NM_001277.3(CHKA):c.688G>A (p.Glu230Lys)	CHKA (E108K +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2311147	NM_001277.3(CHKA):c.643G>A (p.Asp215Asn)	CHKA (D225N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1325846	NM_001277.3(CHKA):c.580C>T (p.Pro194Ser)	CHKA (P176S +4 more)	Single nucleotide variant (missense variant +2 more)	Microcephaly +2 more	GLikely pathogenic
Select item 2334585	NM_001277.3(CHKA):c.562G>A (p.Ala188Thr)	CHKA (A48T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2620960	NM_001277.3(CHKA):c.548T>C (p.Met183Thr)	CHKA (M165T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1325845	NM_001277.3(CHKA):c.421C>T (p.Arg141Trp)	CHKA (R141W +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly +2 more	GLikely pathogenic
Select item 2342336	NM_001277.3(CHKA):c.253C>T (p.Pro85Ser)	CHKA (P85S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2544838	NM_001277.3(CHKA):c.224C>T (p.Pro75Leu)	CHKA (P75L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2343657	NM_001277.3(CHKA):c.214C>T (p.Pro72Ser)	CHKA (P72S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3144373	NM_001277.3(CHKA):c.213G>C (p.Gln71His)	CHKA (Q71H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2920791	NM_001277.3(CHKA):c.186GCTGCC[3] (p.63LP[3])	CHKA	Microsatellite (inframe_deletion +2 more)	Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures	GUncertain significance
Select item 3341486	NM_001277.3(CHKA):c.191C>A (p.Pro64Gln)	CHKA (P64Q)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures	GUncertain significance
Select item 2283195	NM_001277.3(CHKA):c.190C>T (p.Pro64Ser)	CHKA (P64S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2285539	NM_001277.3(CHKA):c.176C>T (p.Pro59Leu)	CHKA (P59L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2304995	NM_001277.3(CHKA):c.172C>T (p.Pro58Ser)	CHKA (P58S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2388288	NM_001277.3(CHKA):c.164T>G (p.Leu55Arg)	CHKA (L55R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2615846	NM_001277.3(CHKA):c.148G>T (p.Gly50Cys)	CHKA (G50C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3144371	NM_001277.3(CHKA):c.101G>A (p.Gly34Glu)	CHKA (G34E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1325847	NM_001277.3(CHKA):c.14dup (p.Cys6fs)	CHKA (C6fs)	Duplication (frameshift variant +2 more)	Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures +3 more	GLikely pathogenic
Select item 1325849	NM_001277.3(CHKA):c.2T>C (p.Met1Thr)	CHKA (M1T)	Single nucleotide variant (missense variant +3 more)	Microcephaly +2 more	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685409	GRCh37/hg19 11q13.2(chr11:67799161-68393180)x1	C11orf24, CHKA +5 more	Copy number loss	not provided	GPathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2424414	NC_000011.9:g.(?_67759017)_(68216538_?)dup	ALDH3B1, C11orf24 +6 more	Duplication	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815437	GRCh37/hg19 11q13.2(chr11:66820585-67979510)x3	ALDH3B2, ACY3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 685625	GRCh37/hg19 11q13.2-13.3(chr11:67826766-68440477)x3	C11orf24, CHKA +3 more	Copy number gain	not provided	GUncertain significance
Select item 442080	GRCh37/hg19 11q13.2-13.4(chr11:67799160-70701268)x1	ANO1, C11orf24 +24 more	Copy number loss	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 43