ClinVar for Gene (Select 246175) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3268231	NM_144571.3(CNOT6L):c.209G>A (p.Arg70His)	CNOT6L (R131H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146637	NM_144571.3(CNOT6L):c.1660C>T (p.Arg554Trp)	CNOT6L (R557W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146636	NM_144571.3(CNOT6L):c.1540G>C (p.Glu514Gln)	CNOT6L (E509Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062778	GRCh37/hg19 4q13.3-21.21(chr4:74822261-79345650)x1	AREG, ART3 +37 more	Copy number loss	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2569976	NM_144571.3(CNOT6L):c.1619C>A (p.Pro540His)	CNOT6L (P543H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517161	NM_144571.3(CNOT6L):c.1201A>C (p.Asn401His)	CNOT6L (N404H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493130	NM_144571.3(CNOT6L):c.1657A>G (p.Asn553Asp)	CNOT6L (N548D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458037	NM_144571.3(CNOT6L):c.1526C>G (p.Pro509Arg)	CNOT6L (P512R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398086	NM_144571.3(CNOT6L):c.160T>G (p.Ser54Ala)	CNOT6L (S49A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356948	NM_144571.3(CNOT6L):c.539G>A (p.Arg180Gln)	CNOT6L (R241Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352968	NM_144571.3(CNOT6L):c.179C>T (p.Ala60Val)	CNOT6L (A55V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348803	NM_144571.3(CNOT6L):c.1334T>C (p.Met445Thr)	CNOT6L (M440T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347879	NM_144571.3(CNOT6L):c.1547A>G (p.Asn516Ser)	CNOT6L (N519S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326122	NM_144571.3(CNOT6L):c.779A>C (p.Asp260Ala)	CNOT6L (D260A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316281	NM_144571.3(CNOT6L):c.1349A>G (p.Asn450Ser)	CNOT6L (N450S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286137	NM_144571.3(CNOT6L):c.140G>A (p.Ser47Asn)	CNOT6L (S42N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218451	NM_144571.3(CNOT6L):c.554C>T (p.Pro185Leu)	CNOT6L (P180L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205578	NM_144571.3(CNOT6L):c.428A>G (p.Asn143Ser)	CNOT6L (N143S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204206	NM_144571.3(CNOT6L):c.89A>C (p.Asn30Thr)	CNOT6L (N30T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808830	GRCh37/hg19 4q21.1(chr4:78117589-78749042)x3	CNOT6L, CXCL13	Copy number gain	not provided	GUncertain significance
Select item 1684642	NC_000004.12:g.67833055_82716065del	BTC, CABS1 +330 more	Deletion	See cases	GPathogenic
Select item 1527099	GRCh37/hg19 4q21.1-21.21(chr4:78671333-79679677)	ANXA3, CNOT6L +2 more	Copy number gain	not specified	GUncertain significance
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1527095	GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154)	CXCL5, CXCL6 +51 more	Copy number loss	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 814566	GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	CXCL3, LIN54 +82 more	Copy number loss	not provided	GPathogenic
Select item 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 more	Copy number loss	not provided	GPathogenic
Select item 747869	NM_144571.3(CNOT6L):c.1420T>C (p.Leu474=)	CNOT6L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 685947	GRCh37/hg19 4q21.1(chr4:78112981-78742412)x3	CNOT6L, CXCL13	Copy number gain	not provided	GUncertain significance
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 152987	GRCh38/hg38 4q21.1-21.21(chr4:75801143-79005805)x3	ANXA3, ART3 +107 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 58031	GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3	ADAMTS3, AFM +166 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992714, LOC129992715 +236 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 41