NAALAD2[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	AAMDC, ACER3 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	LINC02553, LINC02700 +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 153608	GRCh38/hg38 11q14.3(chr11:89425778-90689442)x1	CHORDC1, DISC1FP1 +17 more	Copy number loss	See cases	GUncertain significance
Select item 146378	GRCh38/hg38 11q14.3(chr11:90123486-91218361)x3	CHORDC1, DISC1FP1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 3298295	NM_005467.4(NAALAD2):c.16G>A (p.Gly6Ser)	NAALAD2 (G6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455955	NM_005467.4(NAALAD2):c.26A>G (p.Tyr9Cys)	NAALAD2 (Y9C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602141	NM_005467.4(NAALAD2):c.124C>T (p.Arg42Cys)	NAALAD2 (R42C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614999	NM_005467.4(NAALAD2):c.125G>A (p.Arg42His)	NAALAD2 (R42H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275571	NM_005467.4(NAALAD2):c.143G>A (p.Arg48Gln)	NAALAD2 (R48Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171959	NM_005467.4(NAALAD2):c.185C>T (p.Ser62Leu)	NAALAD2 (S62L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507910	NM_005467.4(NAALAD2):c.278T>C (p.Phe93Ser)	NAALAD2 (F93S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267414	NM_005467.4(NAALAD2):c.329C>A (p.Pro110His)	NAALAD2 (P110H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397270	NM_005467.4(NAALAD2):c.350A>C (p.Tyr117Ser)	NAALAD2 (Y117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280738	NM_005467.4(NAALAD2):c.356C>T (p.Ser119Leu)	NAALAD2 (S119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335732	NM_005467.4(NAALAD2):c.361G>A (p.Val121Met)	NAALAD2 (V121M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461456	NM_005467.4(NAALAD2):c.419G>A (p.Gly140Asp)	NAALAD2 (G140D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519434	NM_005467.4(NAALAD2):c.436A>T (p.Asn146Tyr)	NAALAD2 (N146Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172009	NM_005467.4(NAALAD2):c.473G>A (p.Gly158Asp)	NAALAD2 (G158D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172013	NM_005467.4(NAALAD2):c.487G>C (p.Asp163His)	NAALAD2 (D163H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298290	NM_005467.4(NAALAD2):c.512G>T (p.Arg171Leu)	NAALAD2 (R171L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172016	NM_005467.4(NAALAD2):c.512G>A (p.Arg171His)	NAALAD2 (R171H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473520	NM_005467.4(NAALAD2):c.548G>A (p.Gly183Asp)	NAALAD2 (G183D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172018	NM_005467.4(NAALAD2):c.620C>T (p.Ala207Val)	NAALAD2 (A207V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553995	NM_005467.4(NAALAD2):c.639A>G (p.Ile213Met)	NAALAD2 (I213M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221700	NM_005467.4(NAALAD2):c.665C>A (p.Ala222Asp)	NAALAD2 (A222D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481313	NM_005467.4(NAALAD2):c.724G>A (p.Ala242Thr)	NAALAD2 (A242T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172031	NM_005467.4(NAALAD2):c.823G>C (p.Glu275Gln)	NAALAD2 (E275Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172038	NM_005467.4(NAALAD2):c.838C>T (p.Pro280Ser)	NAALAD2 (P280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225228	NM_005467.4(NAALAD2):c.889C>T (p.Arg297Cys)	NAALAD2 (R297C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298289	NM_005467.4(NAALAD2):c.902G>T (p.Gly301Val)	NAALAD2 (G301V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172048	NM_005467.4(NAALAD2):c.958G>A (p.Gly320Arg)	NAALAD2 (G320R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526240	NM_005467.4(NAALAD2):c.1040A>G (p.Asn347Ser)	NAALAD2 (N314S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171928	NM_005467.4(NAALAD2):c.1063T>C (p.Ser355Pro)	NAALAD2 (S322P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298293	NM_005467.4(NAALAD2):c.1103G>C (p.Arg368Pro)	NAALAD2 (R368P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298291	NM_005467.4(NAALAD2):c.1132C>G (p.Pro378Ala)	NAALAD2 (P378A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171929	NM_005467.4(NAALAD2):c.1172G>A (p.Ser391Asn)	NAALAD2 (S391N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171943	NM_005467.4(NAALAD2):c.1270T>C (p.Trp424Arg)	NAALAD2 (W391R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268378	NM_005467.4(NAALAD2):c.1284T>A (p.Asn428Lys)	NAALAD2 (N395K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248925	NM_005467.4(NAALAD2):c.1289A>G (p.Lys430Arg)	NAALAD2 (K430R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479132	NM_005467.4(NAALAD2):c.1300G>A (p.Glu434Lys)	NAALAD2 (E401K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171952	NM_005467.4(NAALAD2):c.1372C>T (p.Pro458Ser)	NAALAD2 (P458S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298288	NM_005467.4(NAALAD2):c.1687C>A (p.Gln563Lys)	NAALAD2 (Q563K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298287	NM_005467.4(NAALAD2):c.1691T>G (p.Leu564Arg)	NAALAD2 (L531R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2511550	NM_005467.4(NAALAD2):c.1769A>G (p.Tyr590Cys)	NAALAD2 (Y590C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221517	NM_005467.4(NAALAD2):c.1801A>G (p.Ile601Val)	NAALAD2 (I601V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494505	NM_005467.4(NAALAD2):c.1913A>G (p.Lys638Arg)	NAALAD2 (K638R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2461347	NM_005467.4(NAALAD2):c.1922T>C (p.Ile641Thr)	NAALAD2 (I608T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2278511	NM_005467.4(NAALAD2):c.1988G>T (p.Arg663Ile)	NAALAD2 (R630I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642265	NM_005467.4(NAALAD2):c.1998C>T (p.Ile666=)	NAALAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2384996	NM_005467.4(NAALAD2):c.2003C>T (p.Pro668Leu)	NAALAD2 (P668L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265923	NM_005467.4(NAALAD2):c.2098G>A (p.Asp700Asn)	NAALAD2 (D667N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306857	NM_005467.4(NAALAD2):c.2109T>A (p.Phe703Leu)	NAALAD2 (F670L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371927	NM_005467.4(NAALAD2):c.2114T>C (p.Ile705Thr)	NAALAD2 (I672T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264264	NM_005467.4(NAALAD2):c.2147A>G (p.Lys716Arg)	NAALAD2 (K683R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298294	NM_005467.4(NAALAD2):c.2200G>C (p.Gly734Arg)	NAALAD2 (G701R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246648	NM_005467.4(NAALAD2):c.2219T>C (p.Leu740Ser)	NAALAD2 (L740S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684652	GRCh37/hg19 11q14.3(chr11:89602560-90979365)x3	CHORDC1, NAALAD2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1809119	GRCh37/hg19 11q14.3(chr11:89474818-89887082)x1	NAALAD2, TRIM49 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527660	GRCh37/hg19 11q14.3(chr11:89514122-92745981)	CHORDC1, FAT3 +9 more	Copy number loss	not specified	GUncertain significance
Select item 1527656	GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)	C11orf54, CCDC81 +39 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527655	GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)	AMOTL1, ANKRD42 +66 more	Copy number loss	not specified	GPathogenic
Select item 1527654	GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	AMOTL1, ANKRD42 +72 more	Copy number loss	not specified	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815456	GRCh37/hg19 11q14.3(chr11:89659554-90697895)x3	CHORDC1, NAALAD2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 815449	GRCh37/hg19 11q14.1-14.3(chr11:84830143-92029933)x3	CCDC81, CCDC83 +29 more	Copy number gain	not provided	GPathogenic
Select item 635866	Single allele	CHORDC1, NAALAD2 +7 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 590793	GRCh37/hg19 11q14.1-14.3(chr11:81771852-90851187)	GRM5, HIKESHI +36 more	Copy number loss	Intellectual disability	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 563830	GRCh37/hg19 11q14.3(chr11:89807945-90050965)x1	CHORDC1, NAALAD2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +95 more	Copy number loss	See cases	GPathogenic
Select item 394676	GRCh37/hg19 11q14.3(chr11:89540275-89956475)x3	CHORDC1, NAALAD2 +7 more	Copy number gain	See cases	GBenign
Select item 226280	GRCh37/hg19 11q14.2-14.3(chr11:87099219-91921385)	CTSC, FOLH1B +14 more	Copy number loss	Abnormal esophagus morphology	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 78