64792[Gene ID] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	See cases	GPathogenic
Select item 2286288	NM_022777.4(IFT22):c.505A>G (p.Ile169Val)	IFT22 (I169V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204150	NM_022777.4(IFT22):c.473G>A (p.Arg158Gln)	IFT22 (R128Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285425	NM_022777.4(IFT22):c.398G>A (p.Ser133Asn)	IFT22 (S103N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2226622	NM_022777.4(IFT22):c.392A>G (p.Lys131Arg)	IFT22 (K101R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335540	NM_022777.4(IFT22):c.329C>T (p.Pro110Leu)	IFT22 (P80L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548251	NM_022777.4(IFT22):c.287G>A (p.Arg96Gln)	IFT22 (R19Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359355	NM_022777.4(IFT22):c.286C>T (p.Arg96Trp)	IFT22 (R19W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281124	NM_022777.4(IFT22):c.283C>G (p.His95Asp)	IFT22 (H65D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281698	NM_022777.4(IFT22):c.266A>T (p.Asn89Ile)	IFT22 (N89I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108394	NM_022777.4(IFT22):c.242C>T (p.Ala81Val)	IFT22 (A81V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108393	NM_022777.4(IFT22):c.227C>T (p.Ala76Val)	IFT22 (A76V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314363	NM_022777.4(IFT22):c.218G>A (p.Cys73Tyr)	IFT22 (C73Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455240	NM_022777.4(IFT22):c.197G>C (p.Gly66Ala)	IFT22 (G66A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2283339	NM_022777.4(IFT22):c.126A>C (p.Glu42Asp)	IFT22 (E42D)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2517890	NM_022777.4(IFT22):c.86T>C (p.Ile29Thr)	IFT22 (I29T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3285426	NM_022777.4(IFT22):c.43G>A (p.Gly15Arg)	IFT22 (G15R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062968	GRCh37/hg19 7q22.1(chr7:100454649-101886704)x1	ACHE, AP1S1 +20 more	Copy number loss	not specified	GPathogenic
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2684498	GRCh37/hg19 7q22.1(chr7:100872231-101464440)x3	CLDN15, COL26A1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684496	GRCh37/hg19 7q22.1(chr7:100532371-101116321)x3	AP1S1, CLDN15 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 929826	GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1	ACHE, ACTL6B +77 more	Copy number loss	See cases	GLikely pathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563415	GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1	CYP3A43, GJC3 +99 more	Copy number loss	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 441901	GRCh37/hg19 7q22.1(chr7:100884470-101699764)x1	COL26A1, CUX1 +3 more	Copy number loss	See cases	GUncertain significance
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 39