ClinVar for Gene (Select 55752) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317476	NM_018243.4(SEPTIN11):c.352G>A (p.Val118Ile)	SEPTIN11 (V128I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317474	NM_018243.4(SEPTIN11):c.664G>T (p.Ala222Ser)	SEPTIN11 (A222S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317473	NM_018243.4(SEPTIN11):c.221A>C (p.Asn74Thr)	SEPTIN11 (N84T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160060	NM_018243.4(SEPTIN11):c.951C>G (p.Phe317Leu)	SEPTIN11 (F327L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160059	NM_018243.4(SEPTIN11):c.785T>C (p.Val262Ala)	SEPTIN11 (V262A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160058	NM_018243.4(SEPTIN11):c.719C>G (p.Thr240Ser)	SEPTIN11 (T250S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160057	NM_018243.4(SEPTIN11):c.688G>A (p.Val230Ile)	SEPTIN11 (V230I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160056	NM_018243.4(SEPTIN11):c.638A>C (p.Gln213Pro)	SEPTIN11 (Q213P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160055	NM_018243.4(SEPTIN11):c.324A>G (p.Ile108Met)	SEPTIN11 (I108M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160054	NM_018243.4(SEPTIN11):c.293T>C (p.Ile98Thr)	SEPTIN11 (I98T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160053	NM_018243.4(SEPTIN11):c.236G>A (p.Arg79Gln)	SEPTIN11 (R79Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160052	NM_018243.4(SEPTIN11):c.20G>A (p.Arg7Lys)	LOC129992705, SEPTIN11 (R7K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3160051	NM_018243.4(SEPTIN11):c.1199C>T (p.Ala400Val)	SEPTIN11 (A400V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160050	NM_018243.4(SEPTIN11):c.1151A>C (p.Lys384Thr)	SEPTIN11 (K384T +1 more)	Single nucleotide variant (missense variant)	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	CAMK2D, GIMD1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2665051	NM_018243.4(SEPTIN11):c.28-2A>G	SEPTIN11	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2615972	NM_018243.4(SEPTIN11):c.934C>T (p.Pro312Ser)	SEPTIN11 (P322S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556416	NM_018243.4(SEPTIN11):c.218A>G (p.His73Arg)	SEPTIN11 (H83R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533109	NM_018243.4(SEPTIN11):c.1254G>T (p.Lys418Asn)	SEPTIN11 (K418N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484003	NM_018243.4(SEPTIN11):c.747G>C (p.Met249Ile)	SEPTIN11 (M249I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459753	NM_018243.4(SEPTIN11):c.737G>A (p.Gly246Asp)	SEPTIN11 (G256D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684642	NC_000004.12:g.67833055_82716065del	LOC126807083, LOC129992743 +330 more	Deletion	See cases	GPathogenic
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 1048602	NM_018243.4(SEPTIN11):c.265dup (p.Glu89fs)	SEPTIN11 (E89fs +1 more)	Duplication (frameshift variant)	Autosomal recessive cerebellar ataxia	GUncertain significance
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 814571	GRCh37/hg19 4q21.1(chr4:77242490-78093831)x1	SOWAHB, SEPTIN11 +4 more	Copy number loss	not provided	GUncertain significance
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 688059	GRCh37/hg19 4q21.1(chr4:77278194-78393601)x3	CCDC158, CCNG2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 685752	GRCh37/hg19 4q21.1(chr4:77748985-77883542)x1	SEPTIN11, SOWAHB	Copy number loss	not provided	GUncertain significance
Select item 685523	GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1	ADAMTS3, AFM +51 more	Copy number loss	not provided	GPathogenic
Select item 685407	GRCh37/hg19 4q21.1(chr4:77278194-78393601)x3	CCDC158, CCNG2 +4 more	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

ClinVar

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Links from Gene

Items: 45