IFT25[gene] - ClinVar

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Items: 28

	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 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +421 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 153752	GRCh38/hg38 1p32.3(chr1:53823735-54328113)x3	CDCP2, CYB5RL +27 more	Copy number gain	See cases	GUncertain significance
Select item 2469874	NM_016126.4(IFT25):c.364G>A (p.Ala122Thr)	IFT25 (A122T +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3108397	NM_016126.4(IFT25):c.334G>A (p.Ala112Thr)	IFT25 (A89T +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1249468	NM_016126.4(IFT25):c.319-137A>G	IFT25	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245908	NM_016126.4(IFT25):c.318+106G>T	IFT25	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242074	NM_016126.4(IFT25):c.318+58dup	IFT25	Duplication (intron variant)	not provided	GBenign
Select item 1269059	NM_016126.4(IFT25):c.275-38A>C	IFT25	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237277	NM_016126.4(IFT25):c.275-156_275-155del	IFT25	Microsatellite (intron variant)	not provided	GBenign
Select item 1249641	NM_016126.4(IFT25):c.206-40A>G	IFT25	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182974	NM_016126.4(IFT25):c.205+224C>G	IFT25	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288641	NM_016126.4(IFT25):c.205+38del	IFT25	Deletion (intron variant)	not provided	GBenign
Select item 3108396	NM_016126.4(IFT25):c.195A>C (p.Gln65His)	IFT25 (Q22H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1252040	NM_016126.4(IFT25):c.183dup (p.Leu62fs)	IFT25 (L19fs +1 more)	Duplication (frameshift variant +2 more)	Renal agenesis	GUncertain significance
Select item 2469668	NM_016126.4(IFT25):c.92T>C (p.Ile31Thr)	IFT25 (I31T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3108398	NM_016126.4(IFT25):c.40G>A (p.Glu14Lys)	IFT25 (E14K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3108395	NM_016126.4(IFT25):c.11T>C (p.Ile4Thr)	IFT25 (I4T)	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 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	JUN, KANK4 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	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: 28