C1QTNF7-AS1[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +618 more	Copy number gain	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 153003	GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1	ABLIM2, ACOX3 +365 more	Copy number loss	See cases	GPathogenic
Select item 626310	NC_000004.12:g.8398067_17505522inv	ACOX3, BOD1L1 +193 more	Inversion	Dihydropteridine reductase deficiency	GPathogenic
Select item 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 57509	GRCh38/hg38 4p15.33-15.31(chr4:14061129-20121834)x1	BST1, C1QTNF7 +98 more	Copy number loss	See cases	GPathogenic
Select item 58026	GRCh38/hg38 4p15.33-15.31(chr4:14659764-18274924)x3	BST1, C1QTNF7 +84 more	Copy number gain	See cases	GPathogenic
Select item 3076628	NM_001177382.2(CPEB2):c.1678T>A (p.Ser560Thr)	C1QTNF7-AS1, CPEB2 (S560T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485987	NM_001177382.2(CPEB2):c.1704T>G (p.Ser568Arg)	C1QTNF7-AS1, CPEB2 (S568R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271840	NM_001177382.2(CPEB2):c.1755T>G (p.His585Gln)	C1QTNF7-AS1, CPEB2 (H585Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348893	NM_001177382.2(CPEB2):c.1762A>G (p.Thr588Ala)	C1QTNF7-AS1, CPEB2 (T588A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269163	NM_001177382.2(CPEB2):c.1765G>A (p.Gly589Arg)	C1QTNF7-AS1, CPEB2 (G589R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076629	NM_001177382.2(CPEB2):c.1856G>A (p.Arg619His)	C1QTNF7-AS1, CPEB2 (R619H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465946	NM_001177382.2(CPEB2):c.1861A>G (p.Thr621Ala)	C1QTNF7-AS1, CPEB2 (T621A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269157	NM_001177382.2(CPEB2):c.1920T>G (p.Asn640Lys)	C1QTNF7-AS1, CPEB2 (N640K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547923	NM_001177382.2(CPEB2):c.1987C>T (p.Leu663Phe)	C1QTNF7-AS1, CPEB2 (L663F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076630	NM_001177382.2(CPEB2):c.2086C>G (p.Leu696Val)	C1QTNF7-AS1, CPEB2 (L669V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289905	NM_001177382.2(CPEB2):c.2090T>C (p.Ile697Thr)	C1QTNF7-AS1, CPEB2 (I670T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333401	NM_001177382.2(CPEB2):c.2123A>C (p.Lys708Thr)	C1QTNF7-AS1, CPEB2 (K678T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269166	NM_001177382.2(CPEB2):c.2422C>T (p.Pro808Ser)	C1QTNF7-AS1, CPEB2 (P770S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269159	NM_001177382.2(CPEB2):c.2429A>C (p.Lys810Thr)	C1QTNF7-AS1, CPEB2 (K783T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076632	NM_001177382.2(CPEB2):c.2467G>T (p.Ala823Ser)	C1QTNF7-AS1, CPEB2 (A793S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231558	NM_001177382.2(CPEB2):c.2530G>A (p.Asp844Asn)	C1QTNF7-AS1, CPEB2 (D809N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219679	NM_001177382.2(CPEB2):c.2719C>T (p.Arg907Trp)	C1QTNF7-AS1, CPEB2 (R872W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539878	NM_001177382.2(CPEB2):c.2776C>T (p.Pro926Ser)	C1QTNF7-AS1, CPEB2 (P888S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358890	NM_001177382.2(CPEB2):c.2972A>G (p.Asn991Ser)	C1QTNF7-AS1, CPEB2 (N961S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 41