ATG16L2[gene] - ClinVar

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

Search results

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 2311649	NM_033388.2(ATG16L2):c.22G>A (p.Gly8Ser)	ATG16L2, LOC130006361 (G8S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3320854	NM_033388.2(ATG16L2):c.37C>T (p.Arg13Cys)	ATG16L2, LOC130006361 (R13C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3130894	NM_033388.2(ATG16L2):c.125A>G (p.His42Arg)	ATG16L2 (H42R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3130895	NM_033388.2(ATG16L2):c.127C>G (p.Leu43Val)	ATG16L2 (L43V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3130898	NM_033388.2(ATG16L2):c.176C>T (p.Pro59Leu)	ATG16L2 (P59L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2455541	NM_033388.2(ATG16L2):c.206A>G (p.His69Arg)	ATG16L2 (H69R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2309590	NM_033388.2(ATG16L2):c.262G>A (p.Ala88Thr)	ATG16L2 (A88T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2219139	NM_033388.2(ATG16L2):c.368C>T (p.Ser123Leu)	ATG16L2 (S123L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320838	NM_033388.2(ATG16L2):c.415G>C (p.Val139Leu)	ATG16L2 (V33L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320883	NM_033388.2(ATG16L2):c.448G>T (p.Ala150Ser)	ATG16L2 (A150S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130901	NM_033388.2(ATG16L2):c.494C>A (p.Ala165Glu)	ATG16L2 (A59E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384157	NM_033388.2(ATG16L2):c.563C>G (p.Ala188Gly)	ATG16L2 (A188G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381875	NM_033388.2(ATG16L2):c.586G>C (p.Val196Leu)	ATG16L2 (V196L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130902	NM_033388.2(ATG16L2):c.597G>C (p.Lys199Asn)	ATG16L2, LOC130006363 (K93N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594975	NM_033388.2(ATG16L2):c.622C>G (p.Leu208Val)	ATG16L2, LOC130006363 (L208V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304851	NM_033388.2(ATG16L2):c.656C>T (p.Ala219Val)	ATG16L2 (A113V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251103	NM_033388.2(ATG16L2):c.748A>G (p.Arg250Gly)	ATG16L2, LOC130006364 (R144G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253231	NM_033388.2(ATG16L2):c.829G>C (p.Ala277Pro)	ATG16L2 (A277P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320847	NM_033388.2(ATG16L2):c.845T>G (p.Leu282Arg)	ATG16L2 (L176R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206597	NM_033388.2(ATG16L2):c.848C>T (p.Thr283Met)	ATG16L2 (T177M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320830	NM_033388.2(ATG16L2):c.851T>C (p.Leu284Pro)	ATG16L2 (L178P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130903	NM_033388.2(ATG16L2):c.914T>C (p.Ile305Thr)	ATG16L2 (I305T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615832	NM_033388.2(ATG16L2):c.950C>G (p.Pro317Arg)	ATG16L2 (P211R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781025	NM_033388.2(ATG16L2):c.956G>C (p.Cys319Ser)	ATG16L2 (C213S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3320844	NM_033388.2(ATG16L2):c.968G>A (p.Arg323Gln)	ATG16L2 (R217Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456337	NM_033388.2(ATG16L2):c.979C>T (p.Arg327Trp)	ATG16L2 (R221W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515368	NM_033388.2(ATG16L2):c.1027C>G (p.Arg343Gly)	ATG16L2 (R237G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339298	NM_033388.2(ATG16L2):c.1073G>A (p.Arg358His)	ATG16L2 (R252H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130892	NM_033388.2(ATG16L2):c.1124C>T (p.Thr375Ile)	ATG16L2 (T375I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130893	NM_033388.2(ATG16L2):c.1229G>A (p.Gly410Glu)	ATG16L2 (G410E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494923	NM_033388.2(ATG16L2):c.1253T>C (p.Leu418Pro)	ATG16L2 (L418P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268401	NM_033388.2(ATG16L2):c.1298C>T (p.Thr433Met)	ATG16L2 (T327M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590557	NM_033388.2(ATG16L2):c.1324C>T (p.Arg442Cys)	ATG16L2 (R442C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320862	NM_033388.2(ATG16L2):c.1325G>A (p.Arg442His)	ATG16L2 (R336H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381650	NM_033388.2(ATG16L2):c.1331G>A (p.Arg444Gln)	ATG16L2 (R444Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642131	NM_033388.2(ATG16L2):c.1344G>A (p.Glu448=)	ATG16L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3130897	NM_033388.2(ATG16L2):c.1426A>T (p.Ile476Phe)	ATG16L2 (I476F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223762	NM_033388.2(ATG16L2):c.1455C>G (p.Ile485Met)	ATG16L2 (I379M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612444	NM_033388.2(ATG16L2):c.1482C>A (p.His494Gln)	ATG16L2 (H388Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618167	NM_033388.2(ATG16L2):c.1514T>C (p.Val505Ala)	ATG16L2 (V505A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483523	NM_033388.2(ATG16L2):c.1565G>A (p.Arg522Gln)	ATG16L2 (R416Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320872	NM_033388.2(ATG16L2):c.1703G>A (p.Cys568Tyr)	ATG16L2 (C568Y +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2240801	NM_033388.2(ATG16L2):c.1736C>T (p.Thr579Ile)	ATG16L2 (T579I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403013	NM_033388.2(ATG16L2):c.1738G>A (p.Gly580Arg)	ATG16L2 (G474R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130899	NM_033388.2(ATG16L2):c.1773C>T (p.Cys591=)	ATG16L2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2355270	NM_033388.2(ATG16L2):c.1807G>A (p.Gly603Arg)	ATG16L2 (G603R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308823	NM_033388.2(ATG16L2):c.1816A>G (p.Met606Val)	ATG16L2 (M500V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3130900	NM_033388.2(ATG16L2):c.1838G>C (p.Arg613Thr)	ATG16L2 (R507T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205087	NM_014824.3(FCHSD2):c.2195T>C (p.Ile732Thr)	ATG16L2, FCHSD2 (I732T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278363	NM_014824.3(FCHSD2):c.2156C>G (p.Pro719Arg)	ATG16L2, FCHSD2 (P719R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459309	NM_014824.3(FCHSD2):c.2155C>G (p.Pro719Ala)	ATG16L2, FCHSD2 (P719A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278368	NM_014824.3(FCHSD2):c.2143C>T (p.Arg715Trp)	ATG16L2, FCHSD2 (R715W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094131	NM_014824.3(FCHSD2):c.2128A>C (p.Lys710Gln)	ATG16L2, FCHSD2 (K710Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379362	NM_014824.3(FCHSD2):c.2069A>T (p.His690Leu)	ATG16L2, FCHSD2 (H690L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615990	NM_014824.3(FCHSD2):c.2039G>C (p.Arg680Pro)	ATG16L2, FCHSD2 (R680P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787382	NM_014824.3(FCHSD2):c.1970C>T (p.Pro657Leu)	ATG16L2, FCHSD2 (P657L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2463167	NM_014824.3(FCHSD2):c.1839T>A (p.Asn613Lys)	ATG16L2, FCHSD2 (N613K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094130	NM_014824.3(FCHSD2):c.1829G>C (p.Gly610Ala)	ATG16L2, FCHSD2 (G610A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278366	NM_014824.3(FCHSD2):c.1787T>C (p.Ile596Thr)	ATG16L2, FCHSD2 (I596T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217348	NM_014824.3(FCHSD2):c.1675G>A (p.Val559Ile)	ATG16L2, FCHSD2 (V559I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278367	NM_014824.3(FCHSD2):c.1672C>A (p.Leu558Ile)	ATG16L2, FCHSD2 (L558I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544599	NM_014824.3(FCHSD2):c.1576C>A (p.Gln526Lys)	ATG16L2, FCHSD2 (Q526K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278364	NM_014824.3(FCHSD2):c.1532G>A (p.Arg511Gln)	ATG16L2, FCHSD2 (R511Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685411	GRCh37/hg19 11q13.4(chr11:72308632-74236530)x1	ARAP1, ARAP1-AS2 +25 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	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 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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: 73