TTC39A[gene] - ClinVar

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Items: 37

	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 1809606	GRCh38/hg38 1p33-32.3(chr1:50441439-50959811)x2	AGBL4, AGBL4-AS1 +119 more	Copy number loss	Orofacial cleft 13	Gassociation
Select item 153324	GRCh38/hg38 1p33-32.3(chr1:49807460-51412851)x3	AGBL4, C1orf185 +50 more	Copy number gain	See cases	GUncertain significance
Select item 2343702	NM_001297663.2(TTC39A):c.1711A>G (p.Met571Val)	TTC39A (M148V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292836	NM_001297663.2(TTC39A):c.1703G>A (p.Ser568Asn)	TTC39A (S569N +7 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3184346	NM_001297663.2(TTC39A):c.1592A>G (p.Lys531Arg)	TTC39A (K532R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614020	NM_001297663.2(TTC39A):c.1570G>A (p.Asp524Asn)	TTC39A (D525N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 487623	NM_001297663.2(TTC39A):c.1490C>G (p.Ala497Gly)	TTC39A (A501G +6 more)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 2356252	NM_001297663.2(TTC39A):c.1479G>T (p.Arg493Ser)	TTC39A (R137S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287949	NM_001297663.2(TTC39A):c.1401C>G (p.Asp467Glu)	TTC39A (D111E +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622945	NM_001297663.2(TTC39A):c.1360A>T (p.Met454Leu)	TTC39A (M427L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517785	NM_001297663.2(TTC39A):c.1336G>C (p.Glu446Gln)	TTC39A (E446Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 487628	NM_001297663.2(TTC39A):c.1322C>T (p.Thr441Met)	TTC39A (T445M +6 more)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 2286514	NM_001297663.2(TTC39A):c.1303G>A (p.Gly435Arg)	TTC39A (G408R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329894	NM_001297663.2(TTC39A):c.1297G>A (p.Val433Met)	TTC39A (V468M +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342670	NM_001297663.2(TTC39A):c.1173T>G (p.Ile391Met)	TTC39A (I364M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370225	NM_001297663.2(TTC39A):c.1022A>T (p.Asp341Val)	TTC39A (D345V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391893	NM_001297663.2(TTC39A):c.1021G>A (p.Asp341Asn)	TTC39A (D376N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405521	NM_001297663.2(TTC39A):c.928C>G (p.Gln310Glu)	TTC39A (Q311E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381863	NM_001297663.2(TTC39A):c.901C>T (p.Arg301Cys)	TTC39A (R302C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329895	NM_001297663.2(TTC39A):c.821G>A (p.Arg274Gln)	TTC39A (R310Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590641	NM_001297663.2(TTC39A):c.820C>T (p.Arg274Trp)	TTC39A (R275W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184347	NM_001297663.2(TTC39A):c.703C>T (p.Arg235Cys)	TTC39A (R271C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638813	NM_001297663.2(TTC39A):c.645A>G (p.Ser215=)	TTC39A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2480972	NM_001297663.2(TTC39A):c.500G>T (p.Ser167Ile)	TTC39A (S140I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405715	NM_001297663.2(TTC39A):c.241G>A (p.Gly81Ser)	TTC39A (G54S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612201	NM_001297663.2(TTC39A):c.46C>T (p.Pro16Ser)	TTC39A (P16S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2241992	NM_001144832.2(TTC39A):c.32C>T (p.Ala11Val)	LOC129930528, TTC39A (A11V)	Single nucleotide variant (missense variant)	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 1809237	GRCh37/hg19 1p32.3(chr1:51797643-52256345)x3	EPS15, NRDC +2 more	Copy number gain	not provided	GUncertain significance
Select item 1526993	GRCh37/hg19 1p32.3(chr1:51755130-52521150)	EPS15, KTI12 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 814074	GRCh37/hg19 1p33-32.3(chr1:47272184-52505405)x1	TXNDC12, AGBL4 +28 more	Copy number loss	not provided	GPathogenic
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 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: 37