ClinVar for Gene (Select 55054) - ClinVar

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Links from Gene

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320821	NM_030803.7(ATG16L1):c.715G>T (p.Asp239Tyr)	ATG16L1 (D95Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320812	NM_030803.7(ATG16L1):c.1629C>T (p.Ser543=)	ATG16L1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3130891	NM_030803.7(ATG16L1):c.1759C>T (p.Pro587Ser)	ATG16L1 (P424S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130890	NM_030803.7(ATG16L1):c.1751C>T (p.Ala584Val)	ATG16L1 (A601V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130889	NM_030803.7(ATG16L1):c.1640G>A (p.Ser547Asn)	ATG16L1 (S547N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130888	NM_030803.7(ATG16L1):c.1564A>G (p.Ile522Val)	ATG16L1 (I359V +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3130887	NM_030803.7(ATG16L1):c.126G>T (p.Leu42Phe)	ATG16L1 (L42F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3068190	NM_030803.7(ATG16L1):c.632_633del (p.Lys211fs)	ATG16L1 (K127fs +2 more)	Deletion (frameshift variant +1 more)	Inflammatory bowel disease 10	GUncertain significance
Select item 3058740	NM_030803.7(ATG16L1):c.1284C>T (p.His428=)	ATG16L1	Single nucleotide variant (synonymous variant)	ATG16L1-related disorder	GLikely benign
Select item 3058537	NM_030803.7(ATG16L1):c.60A>G (p.Gln20=)	ATG16L1, LOC129935882	Single nucleotide variant (5 prime UTR variant +1 more)	ATG16L1-related disorder	GLikely benign
Select item 3053014	NM_030803.7(ATG16L1):c.656G>A (p.Arg219Gln)	ATG16L1 (R103Q +3 more)	Single nucleotide variant (missense variant)	ATG16L1-related disorder	GLikely benign
Select item 3039220	NM_030803.7(ATG16L1):c.1779C>T (p.Val593=)	ATG16L1	Single nucleotide variant (synonymous variant)	ATG16L1-related disorder	GLikely benign
Select item 3033942	NM_030803.7(ATG16L1):c.552G>A (p.Thr184=)	ATG16L1	Single nucleotide variant (synonymous variant +1 more)	ATG16L1-related disorder	GLikely benign
Select item 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 2620253	NM_030803.7(ATG16L1):c.1547A>G (p.Asp516Gly)	ATG16L1 (D516G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618236	NM_030803.7(ATG16L1):c.409A>T (p.Thr137Ser)	ATG16L1 (T137S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616589	NM_030803.7(ATG16L1):c.1600G>A (p.Gly534Ser)	ATG16L1 (G534S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600624	NM_030803.7(ATG16L1):c.157G>T (p.Ala53Ser)	ATG16L1 (A53S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2575077	GRCh37/hg19 2q37.1(chr2:232563726-234136887)x3	ALPG, ALPI +19 more	Copy number gain	See cases	GUncertain significance
Select item 2517191	NM_030803.7(ATG16L1):c.886G>A (p.Asp296Asn)	ATG16L1 (D180N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495760	NM_030803.7(ATG16L1):c.1102G>A (p.Gly368Arg)	ATG16L1 (G385R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479767	NM_030803.7(ATG16L1):c.1150G>A (p.Ala384Thr)	ATG16L1 (A401T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459032	NM_030803.7(ATG16L1):c.1561G>A (p.Ala521Thr)	ATG16L1 (A405T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400511	NM_030803.7(ATG16L1):c.514A>G (p.Thr172Ala)	ATG16L1 (T88A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338364	NM_030803.7(ATG16L1):c.1082C>T (p.Ser361Phe)	ATG16L1 (S342F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314707	NM_030803.7(ATG16L1):c.1074C>G (p.Phe358Leu)	ATG16L1 (F274L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313217	NM_030803.7(ATG16L1):c.1549C>T (p.Leu517Phe)	ATG16L1 (L534F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298769	NM_030803.7(ATG16L1):c.428C>T (p.Thr143Met)	ATG16L1 (T27M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290885	NM_030803.7(ATG16L1):c.139G>C (p.Asp47His)	ATG16L1 (D47H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2285638	NM_030803.7(ATG16L1):c.1710G>C (p.Lys570Asn)	ATG16L1 (K570N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226735	NM_030803.7(ATG16L1):c.187G>A (p.Val63Ile)	ATG16L1 (V63I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2210507	NM_030803.7(ATG16L1):c.1262C>T (p.Ala421Val)	ATG16L1 (A258V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807604	GRCh37/hg19 2q37.1-37.3(chr2:233642145-237654870)x1	ACKR3, AGAP1 +27 more	Copy number loss	not provided	GUncertain significance
Select item 1703651	GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384)	CHRND, CHRNG +93 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526962	GRCh37/hg19 2q37.1(chr2:232215111-235593473)	ALPG, ALPI +44 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526959	GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892)	ALPG, ALPI +61 more	Copy number loss	not specified	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1450036	NC_000002.11:g.(?_233164730)_(234250992_?)dup	CHRND, ALPG +16 more	Duplication	not provided	GUncertain significance
Select item 1374168	NC_000002.11:g.(?_231033840)_(234978657_?)dup	SPATA3, UGT1A3 +54 more	Duplication	Perlman syndrome +1 more	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 981208	GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1	DTYMK, DUSP28 +96 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 980013	GRCh37/hg19 2q37.1(chr2:234154138-234421801)x3	USP40, ATG16L1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 833094	NC_000002.12:g.(?_233263130)_(233390483_?)dup	ATG16L1, SAG +1 more	Duplication	not provided	GUncertain significance
Select item 816584	GRCh37/hg19 2q37.1(chr2:234154138-234477315)x3	SAG, ATG16L1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 816583	GRCh37/hg19 2q37.1-37.3(chr2:234090049-239494702)x1	RAB17, ASB1 +41 more	Copy number loss	not provided	GPathogenic
Select item 816582	GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3	ACKR3, AGAP1 +119 more	Copy number gain	not provided	GPathogenic
Select item 775832	NM_030803.7(ATG16L1):c.1788C>T (p.Asp596=)	ATG16L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689157	GRCh37/hg19 2q37.1(chr2:234162434-234275131)x3	ATG16L1, DGKD +1 more	Copy number gain	not provided	GUncertain significance
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	UGT1A8, UGT1A9 +113 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 395404	GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1	ACKR3, AGAP1 +82 more	Copy number loss	See cases	GPathogenic
Select item 196483	NM_030803.7(ATG16L1):c.220G>A (p.Asp74Asn)	ATG16L1 (D74N)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935965, LOC129935966 +455 more	Copy number loss	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	LOC126806558, LOC126806559 +309 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	CCL20, CHRND +347 more	Copy number loss	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 1130	NM_030803.7(ATG16L1):c.898A>G (p.Thr300Ala)	ATG16L1 (T300A +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign

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Links from Gene

Items: 74