ClinVar for Gene (Select 7798) - ClinVar

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Links from Gene

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292324	NM_001395462.2(LUZP1):c.2110C>A (p.Leu704Ile)	LUZP1 (L704I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292322	NM_001395462.2(LUZP1):c.1690A>G (p.Ile564Val)	LUZP1 (I564V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292321	NM_001395462.2(LUZP1):c.686C>T (p.Thr229Ile)	LUZP1 (T229I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292320	NM_001395462.2(LUZP1):c.2812A>C (p.Thr938Pro)	LUZP1 (T938P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292319	NM_001395462.2(LUZP1):c.1207C>T (p.Arg403Trp)	LUZP1 (R403W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250812	NM_001395462.2(LUZP1):c.1785G>A (p.Pro595=)	LUZP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3247719	NC_000001.10:g.(?_23395012)_(24673151_?)del	ASAP3, CNR2 +22 more	Deletion	Diamond-Blackfan anemia	GPathogenic
Select item 3121586	NM_001395462.2(LUZP1):c.961G>A (p.Asp321Asn)	LUZP1 (D321N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121585	NM_001395462.2(LUZP1):c.899C>T (p.Thr300Ile)	LUZP1 (T300I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121584	NM_001395462.2(LUZP1):c.770G>A (p.Arg257Lys)	LUZP1 (R257K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121583	NM_001395462.2(LUZP1):c.588G>C (p.Glu196Asp)	LUZP1 (E196D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121582	NM_001395462.2(LUZP1):c.40C>T (p.Arg14Cys)	LUZP1 (R14C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121581	NM_001395462.2(LUZP1):c.3134C>T (p.Pro1045Leu)	LUZP1 (P1045L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121580	NM_001395462.2(LUZP1):c.29C>T (p.Thr10Met)	LUZP1 (T10M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121579	NM_001395462.2(LUZP1):c.2909T>A (p.Leu970His)	LUZP1 (L970H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121578	NM_001395462.2(LUZP1):c.2781G>C (p.Arg927Ser)	LUZP1 (R927S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121577	NM_001395462.2(LUZP1):c.2546A>G (p.His849Arg)	LUZP1 (H849R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121576	NM_001395462.2(LUZP1):c.2522C>T (p.Pro841Leu)	LUZP1 (P841L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121575	NM_001395462.2(LUZP1):c.2474A>T (p.Gln825Leu)	LUZP1 (Q825L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121574	NM_001395462.2(LUZP1):c.2416C>T (p.Pro806Ser)	LUZP1 (P806S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121573	NM_001395462.2(LUZP1):c.2327C>G (p.Thr776Ser)	LUZP1 (T776S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121572	NM_001395462.2(LUZP1):c.228A>T (p.Glu76Asp)	LUZP1 (E76D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121570	NM_001395462.2(LUZP1):c.2201A>G (p.Asn734Ser)	LUZP1 (N734S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121569	NM_001395462.2(LUZP1):c.2098C>T (p.Pro700Ser)	LUZP1 (P700S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121568	NM_001395462.2(LUZP1):c.2015A>G (p.Lys672Arg)	LUZP1 (K672R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121567	NM_001395462.2(LUZP1):c.1922A>G (p.His641Arg)	LUZP1 (H641R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121566	NM_001395462.2(LUZP1):c.1508A>G (p.Lys503Arg)	LUZP1 (K503R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121565	NM_001395462.2(LUZP1):c.1505G>C (p.Gly502Ala)	LUZP1 (G502A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121563	NM_001395462.2(LUZP1):c.1195C>T (p.Arg399Trp)	LUZP1 (R399W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067566	NM_001395462.2(LUZP1):c.1206C>T (p.Leu402=)	LUZP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2616901	NM_001395462.2(LUZP1):c.392A>G (p.Lys131Arg)	LUZP1 (K131R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614621	NM_001395462.2(LUZP1):c.1633G>A (p.Val545Met)	LUZP1 (V545M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613827	NM_001395462.2(LUZP1):c.1232A>G (p.Asn411Ser)	LUZP1 (N411S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601457	NM_001395462.2(LUZP1):c.2926C>G (p.Arg976Gly)	LUZP1 (R976G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592991	NM_001395462.2(LUZP1):c.845A>G (p.Asn282Ser)	LUZP1 (N282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540204	NM_001395462.2(LUZP1):c.2816G>A (p.Arg939Gln)	LUZP1 (R939Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522255	NM_001395462.2(LUZP1):c.3014G>A (p.Arg1005His)	LUZP1 (R1005H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511674	NM_001395462.2(LUZP1):c.2486C>T (p.Ala829Val)	LUZP1 (A829V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509106	NM_001395462.2(LUZP1):c.1793A>C (p.Lys598Thr)	LUZP1 (K598T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508803	NM_001395462.2(LUZP1):c.274A>T (p.Met92Leu)	LUZP1 (M92L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497705	NM_001395462.2(LUZP1):c.1202G>A (p.Arg401Gln)	LUZP1 (R401Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2487164	NM_001395462.2(LUZP1):c.1819T>G (p.Tyr607Asp)	LUZP1 (Y607D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482624	NM_001395462.2(LUZP1):c.350T>C (p.Met117Thr)	LUZP1 (M117T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 2412570	NM_001395462.2(LUZP1):c.2362G>C (p.Gly788Arg)	LUZP1 (G788R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411145	NM_001395462.2(LUZP1):c.1196G>A (p.Arg399Gln)	LUZP1 (R399Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403278	NM_001395462.2(LUZP1):c.2710C>T (p.His904Tyr)	LUZP1 (H904Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385793	NM_001395462.2(LUZP1):c.1361G>A (p.Arg454Gln)	LUZP1 (R454Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365353	NM_001395462.2(LUZP1):c.743C>T (p.Ser248Phe)	LUZP1 (S248F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363614	NM_001395462.2(LUZP1):c.512G>A (p.Arg171His)	LUZP1 (R171H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358724	NM_001395462.2(LUZP1):c.823T>C (p.Ser275Pro)	LUZP1 (S275P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349110	NM_001395462.2(LUZP1):c.2627G>A (p.Arg876Gln)	LUZP1 (R876Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344132	NM_001395462.2(LUZP1):c.3016C>T (p.Arg1006Trp)	LUZP1 (R1006W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320575	NM_001395462.2(LUZP1):c.2830G>A (p.Val944Met)	LUZP1 (V944M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2317904	NM_001395462.2(LUZP1):c.1414T>G (p.Ser472Ala)	LUZP1 (S472A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303785	NM_001395462.2(LUZP1):c.1940G>A (p.Arg647Gln)	LUZP1 (R647Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298095	NM_001395462.2(LUZP1):c.2500G>A (p.Val834Ile)	LUZP1 (V834I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294121	NM_001395462.2(LUZP1):c.2012C>T (p.Ala671Val)	LUZP1 (A671V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283764	NM_001395462.2(LUZP1):c.908A>G (p.Lys303Arg)	LUZP1 (K303R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282737	NM_001395462.2(LUZP1):c.1594G>C (p.Asp532His)	LUZP1 (D532H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279795	NM_001395462.2(LUZP1):c.1466A>C (p.Lys489Thr)	LUZP1 (K489T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271053	NM_001395462.2(LUZP1):c.3216T>G (p.Cys1072Trp)	LUZP1 (C1072W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270622	NM_001395462.2(LUZP1):c.3125C>G (p.Ser1042Cys)	LUZP1 (S1042C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260461	NM_001395462.2(LUZP1):c.2647C>G (p.Pro883Ala)	LUZP1 (P883A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258175	NM_001395462.2(LUZP1):c.716A>G (p.Asp239Gly)	LUZP1 (D239G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252137	NM_001395462.2(LUZP1):c.1310T>C (p.Met437Thr)	LUZP1 (M437T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248680	NM_001395462.2(LUZP1):c.2252G>A (p.Arg751Gln)	LUZP1 (R751Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222129	NM_001395462.2(LUZP1):c.1861A>G (p.Thr621Ala)	LUZP1 (T621A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527614	GRCh37/hg19 1p36.12(chr1:23349440-23435538)	KDM1A, LUZP1	Copy number loss	not specified	GUncertain significance
Select item 1340465	GRCh37/hg19 1p36.12(chr1:23361431-23568142)x3	HTR1D, KDM1A +1 more	Copy number gain	not provided	GUncertain significance
Select item 1228381	GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	FAM43B, HP1BP3 +77 more	Copy number loss	1p36.1 deletion syndrome	GPathogenic
Select item 980389	GRCh37/hg19 1p36.12(chr1:23424509-23477959)x1	LUZP1	Copy number loss	not provided	GUncertain significance
Select item 814064	GRCh37/hg19 1p36.12(chr1:23351356-23471672)x1	LUZP1, KDM1A	Copy number loss	not provided	GUncertain significance
Select item 770680	NM_001395462.2(LUZP1):c.1952C>G (p.Ser651Cys)	LUZP1 (S651C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 720860	NM_001395462.2(LUZP1):c.474C>G (p.Leu158=)	LUZP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720859	NM_001395462.2(LUZP1):c.2179A>G (p.Thr727Ala)	LUZP1 (T727A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

ClinVar

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Links from Gene

Items: 82