KTI12[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +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 2293121	NM_138417.3(KTI12):c.1052A>G (p.Gln351Arg)	KTI12, TXNDC12 (Q351R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2331665	NM_138417.3(KTI12):c.1051C>G (p.Gln351Glu)	KTI12, TXNDC12 (Q351E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2613600	NM_138417.3(KTI12):c.1001A>G (p.Asn334Ser)	KTI12, TXNDC12 (N334S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3117194	NM_138417.3(KTI12):c.844C>G (p.Leu282Val)	KTI12, TXNDC12 (L282V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2458110	NM_138417.3(KTI12):c.819G>T (p.Gln273His)	KTI12, TXNDC12 (Q273H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2619537	NM_138417.3(KTI12):c.814C>T (p.His272Tyr)	KTI12, TXNDC12 (H272Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2254436	NM_138417.3(KTI12):c.754C>G (p.Arg252Gly)	KTI12, TXNDC12 (R252G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2481125	NM_138417.3(KTI12):c.713C>T (p.Pro238Leu)	KTI12, TXNDC12 (P238L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2341173	NM_138417.3(KTI12):c.680G>A (p.Arg227Gln)	KTI12, TXNDC12 (R227Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3117192	NM_138417.3(KTI12):c.598T>G (p.Ser200Ala)	KTI12, TXNDC12 (S200A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2562307	NM_138417.3(KTI12):c.566C>G (p.Thr189Ser)	KTI12, TXNDC12 (T189S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2283572	NM_138417.3(KTI12):c.497C>T (p.Ala166Val)	KTI12, TXNDC12 (A166V)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3117191	NM_138417.3(KTI12):c.454C>T (p.Leu152Phe)	KTI12, TXNDC12 (L152F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3117190	NM_138417.3(KTI12):c.423C>G (p.Asp141Glu)	KTI12, TXNDC12 (D141E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3117189	NM_138417.3(KTI12):c.326G>C (p.Arg109Pro)	KTI12, TXNDC12 (R109P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3117188	NM_138417.3(KTI12):c.307T>G (p.Cys103Gly)	KTI12, TXNDC12 (C103G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3117187	NM_138417.3(KTI12):c.286C>T (p.Arg96Trp)	KTI12, TXNDC12 (R96W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2459422	NM_138417.3(KTI12):c.254A>G (p.Lys85Arg)	KTI12, TXNDC12 (K85R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2269355	NM_138417.3(KTI12):c.103G>A (p.Val35Met)	KTI12, LOC129930536 +1 more (V35M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2358232	NM_138417.3(KTI12):c.50G>A (p.Arg17His)	KTI12, LOC129930536 +1 more (R17H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2476124	NM_138417.3(KTI12):c.37G>T (p.Gly13Cys)	KTI12, LOC129930536 +1 more (G13C)	Single nucleotide variant (missense variant +2 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 1526993	GRCh37/hg19 1p32.3(chr1:51755130-52521150)	EPS15, KTI12 +5 more	Copy number gain	not specified	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 814074	GRCh37/hg19 1p33-32.3(chr1:47272184-52505405)x1	AGBL4, BEND5 +28 more	Copy number loss	not provided	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +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: 31