ATG9A[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 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 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 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 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 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 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 149033	GRCh38/hg38 2q35(chr2:219081620-219758878)x3	ABCB6, ANKZF1 +77 more	Copy number gain	See cases	GUncertain significance
Select item 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	See cases	GPathogenic
Select item 3131034	NM_001077198.3(ATG9A):c.2483C>T (p.Ser828Leu)	ATG9A (S828L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520004	NM_001077198.3(ATG9A):c.2381T>G (p.Val794Gly)	ATG9A (V794G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321469	NM_001077198.3(ATG9A):c.2350C>T (p.Arg784Cys)	ATG9A (R784C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131033	NM_001077198.3(ATG9A):c.2305C>T (p.Pro769Ser)	ATG9A (P769S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269837	NM_001077198.3(ATG9A):c.2248G>C (p.Ala750Pro)	ATG9A (A750P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523389	NM_001077198.3(ATG9A):c.2240G>A (p.Gly747Glu)	ATG9A (G747E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222706	NM_001077198.3(ATG9A):c.2221A>G (p.Ser741Gly)	ATG9A (S741G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507841	NM_001077198.3(ATG9A):c.2194C>T (p.Arg732Cys)	ATG9A (R732C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292590	NM_001077198.3(ATG9A):c.2026G>A (p.Gly676Arg)	ATG9A (G676R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461634	NM_001077198.3(ATG9A):c.1988C>T (p.Ala663Val)	ATG9A (A663V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3321479	NM_001077198.3(ATG9A):c.1958G>A (p.Arg653His)	ATG9A (R653H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248390	NM_001077198.3(ATG9A):c.1909A>G (p.Arg637Gly)	ATG9A (R637G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131032	NM_001077198.3(ATG9A):c.1864G>A (p.Ala622Thr)	ATG9A (A622T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457148	NM_001077198.3(ATG9A):c.1798C>T (p.Pro600Ser)	ATG9A (P600S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484728	NM_001077198.3(ATG9A):c.1766C>T (p.Ala589Val)	ATG9A (A589V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509443	NM_001077198.3(ATG9A):c.1757G>A (p.Arg586Gln)	ATG9A (R586Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275033	NM_001077198.3(ATG9A):c.1684A>G (p.Ile562Val)	ATG9A (I562V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266909	NM_001077198.3(ATG9A):c.1618A>G (p.Thr540Ala)	ATG9A (T540A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321501	NM_001077198.3(ATG9A):c.1594C>G (p.Pro532Ala)	ATG9A (P532A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334232	NM_001077198.3(ATG9A):c.1579C>T (p.Arg527Cys)	ATG9A (R527C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238309	NM_001077198.3(ATG9A):c.1576G>A (p.Val526Ile)	ATG9A (V526I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321490	NM_001077198.3(ATG9A):c.1505T>C (p.Ile502Thr)	ATG9A (I502T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321458	NM_001077198.3(ATG9A):c.1402C>T (p.Leu468Phe)	ATG9A (L468F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131031	NM_001077198.3(ATG9A):c.1316G>A (p.Arg439His)	ATG9A (R439H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247766	NM_001077198.3(ATG9A):c.1294T>G (p.Phe432Val)	ATG9A (F432V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131030	NM_001077198.3(ATG9A):c.1279G>A (p.Asp427Asn)	ATG9A (D427N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 719405	NM_001077198.3(ATG9A):c.1266-5A>G	ATG9A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2480890	NM_001077198.3(ATG9A):c.1174A>C (p.Ile392Leu)	ATG9A (I392L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372339	NM_001077198.3(ATG9A):c.1009C>T (p.Arg337Cys)	ATG9A (R337C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411739	NM_001077198.3(ATG9A):c.976G>A (p.Ala326Thr)	ATG9A (A326T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374201	NM_001077198.3(ATG9A):c.692G>A (p.Arg231His)	ATG9A (R231H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382168	NM_001077198.3(ATG9A):c.632G>A (p.Arg211His)	ATG9A (R211H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131037	NM_001077198.3(ATG9A):c.536C>T (p.Thr179Met)	ATG9A (T179M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308254	NM_001077198.3(ATG9A):c.503T>C (p.Leu168Pro)	ATG9A (L168P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 730112	NM_001077198.3(ATG9A):c.483C>T (p.His161=)	ATG9A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2399937	NM_001077198.3(ATG9A):c.437G>A (p.Arg146Gln)	ATG9A (R146Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131035	NM_001077198.3(ATG9A):c.421G>A (p.Val141Ile)	ATG9A (V141I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321446	NM_001077198.3(ATG9A):c.401C>T (p.Thr134Ile)	ATG9A (T134I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213402	NM_001077198.3(ATG9A):c.376A>G (p.Ile126Val)	ATG9A (I126V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345113	NM_001077198.3(ATG9A):c.367A>G (p.Ser123Gly)	ATG9A (S123G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270697	NM_001077198.3(ATG9A):c.343G>A (p.Ala115Thr)	ATG9A (A115T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604957	NM_001077198.3(ATG9A):c.265T>A (p.Tyr89Asn)	ATG9A (Y89N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352113	NM_001077198.3(ATG9A):c.259G>A (p.Val87Met)	ATG9A (V87M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604956	NM_001077198.3(ATG9A):c.242C>A (p.Thr81Asn)	ATG9A (T81N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284172	NM_001077198.3(ATG9A):c.41C>T (p.Ser14Phe)	ATG9A (S14F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131036	NM_001077198.3(ATG9A):c.4G>A (p.Ala2Thr)	ATG9A (A2T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	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 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	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 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1526952	GRCh37/hg19 2q35(chr2:218210665-220141650)	AAMP, ABCB6 +42 more	Copy number gain	not specified	GUncertain significance
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 1434778	NC_000002.11:g.(?_218999525)_(220435954_?)dup	AAMP, ABCB6 +50 more	Duplication	Alacrima, achalasia, and intellectual disability syndrome +1 more	GUncertain significance
Select item 1180532	GRCh37/hg19 2q35-36.3(chr2:220056891-227164817)x1	PTPRN, RESP18 +36 more	Copy number loss	not provided	GPathogenic
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 980008	GRCh37/hg19 2q35(chr2:219797684-220088582)x3	CRYBA2, SLC23A3 +11 more	Copy number gain	not provided	GUncertain significance
Select item 980004	GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1	AAMP, ABCA12 +66 more	Copy number loss	not provided	GLikely pathogenic
Select item 816573	GRCh37/hg19 2q35(chr2:216883237-220953003)x3	CXCR2, FEV +65 more	Copy number gain	not provided	GPathogenic
Select item 686962	GRCh37/hg19 2q35(chr2:219879593-220346596)x3	ABCB6, ANKZF1 +17 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 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 583449	NC_000002.11:g.(?_219135239)_(220290732_?)del	CNPPD1, DNAJB2 +39 more	Deletion	Desmin-related myofibrillar myopathy	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 562674	GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1	AAMP, ABCB6 +71 more	Copy number loss	not provided	GPathogenic
Select item 549857	Single allele	PTPRN, STK11IP +23 more	Deletion	Bilateral cleft lip and palate +3 more	GPathogenic
Select item 493568	GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1	IRS1, KCNE4 +77 more	Copy number loss	not provided	GLikely pathogenic
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 442382	GRCh37/hg19 2q35(chr2:219275536-220266647)x3	ABCB6, ANKZF1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic

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Items: 80