ADAT1[gene] - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	LOC112486211, LOC112486212 +360 more	Copy number loss	See cases	GPathogenic
Select item 150246	GRCh38/hg38 16q23.1(chr16:74811982-75698467)x3	ADAT1, BCAR1 +83 more	Copy number gain	See cases	GUncertain significance
Select item 155122	GRCh38/hg38 16q23.1(chr16:75227456-75731127)x3	ADAT1, BCAR1 +52 more	Copy number gain	See cases	GUncertain significance
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 60022	GRCh38/hg38 16q23.1(chr16:75485676-75603079)x3	ADAT1, CHST5 +22 more	Copy number gain	See cases	GUncertain significance
Select item 146126	GRCh38/hg38 16q23.1(chr16:75541502-79154140)x1	ADAMTS18, ADAT1 +102 more	Copy number loss	See cases	GPathogenic
Select item 60023	GRCh38/hg38 16q23.1(chr16:75581049-76337261)x3	ADAT1, CNTNAP4 +17 more	Copy number gain	See cases	GUncertain significance
Select item 3080506	NM_001324445.2(ADAT1):c.1465G>C (p.Gly489Arg)	ADAT1 (G407R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268816	NM_001324445.2(ADAT1):c.1451G>A (p.Arg484Gln)	ADAT1 (R335Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384111	NM_001324445.2(ADAT1):c.1418C>T (p.Ala473Val)	ADAT1 (A242V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487142	NM_001324445.2(ADAT1):c.1370C>T (p.Ser457Phe)	ADAT1 (S226F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304134	NM_001324445.2(ADAT1):c.1351A>G (p.Arg451Gly)	ADAT1 (R220G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288797	NM_001324445.2(ADAT1):c.1262A>G (p.Lys421Arg)	ADAT1 (K421R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389959	NM_001324445.2(ADAT1):c.1250A>G (p.Gln417Arg)	ADAT1 (Q417R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234108	NM_001324445.2(ADAT1):c.1232C>T (p.Thr411Ile)	ADAT1 (T324I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228448	NM_001324445.2(ADAT1):c.1192A>G (p.Ile398Val)	ADAT1 (I311V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495830	NM_001324445.2(ADAT1):c.1138G>C (p.Val380Leu)	ADAT1 (V231L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474026	NM_001324445.2(ADAT1):c.1136C>A (p.Ala379Glu)	ADAT1 (A230E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281160	NM_001324445.2(ADAT1):c.1136C>T (p.Ala379Val)	ADAT1 (A379V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080466	NM_001324445.2(ADAT1):c.1065A>T (p.Leu355Phe)	ADAT1 (L355F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080464	NM_001324445.2(ADAT1):c.1048C>G (p.Gln350Glu)	ADAT1 (Q350E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080461	NM_001324445.2(ADAT1):c.1026G>T (p.Gln342His)	ADAT1 (Q342H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466256	NM_001324445.2(ADAT1):c.957G>T (p.Leu319Phe)	ADAT1 (L170F +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3080564	NM_001324445.2(ADAT1):c.928G>A (p.Gly310Arg)	ADAT1 (G223R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325584	NM_001324445.2(ADAT1):c.925C>T (p.Leu309Phe)	ADAT1 (L222F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350500	NM_001324445.2(ADAT1):c.914G>A (p.Arg305Gln)	ADAT1 (R156Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528018	NM_001324445.2(ADAT1):c.875A>G (p.Asp292Gly)	ADAT1 (D205G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268846	NM_001324445.2(ADAT1):c.827C>T (p.Ala276Val)	ADAT1 (A189V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080554	NM_001324445.2(ADAT1):c.826G>T (p.Ala276Ser)	ADAT1 (A189S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080551	NM_001324445.2(ADAT1):c.821C>T (p.Pro274Leu)	ADAT1 (P274L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367407	NM_001324445.2(ADAT1):c.817A>G (p.Lys273Glu)	ADAT1 (K124E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268853	NM_001324445.2(ADAT1):c.806G>A (p.Gly269Glu)	ADAT1 (G120E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471351	NM_001324445.2(ADAT1):c.722C>G (p.Ala241Gly)	ADAT1 (A154G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646878	NM_001324445.2(ADAT1):c.693C>T (p.His231=)	ADAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3080547	NM_001324445.2(ADAT1):c.683C>T (p.Pro228Leu)	ADAT1 (P228L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161660	NM_001324445.2(ADAT1):c.674C>G (p.Pro225Arg)	ADAT1 (P225R +2 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 3080544	NM_001324445.2(ADAT1):c.632G>A (p.Gly211Glu)	ADAT1 (G124E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391793	NM_001324445.2(ADAT1):c.621G>C (p.Glu207Asp)	ADAT1 (E207D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530198	NM_001324445.2(ADAT1):c.610G>A (p.Ala204Thr)	ADAT1 (A117T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371380	NM_001324445.2(ADAT1):c.577G>A (p.Val193Ile)	ADAT1 (V106I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542832	NM_001324445.2(ADAT1):c.525T>A (p.Ser175Arg)	ADAT1 (S175R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268859	NM_001324445.2(ADAT1):c.431A>G (p.Asp144Gly)	ADAT1 (D144G +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2365907	NM_001324445.2(ADAT1):c.367G>A (p.Gly123Arg)	ADAT1 (G123R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2272880	NM_001324445.2(ADAT1):c.310C>T (p.Leu104Phe)	ADAT1 (L104F +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2646879	NM_001324445.2(ADAT1):c.162G>A (p.Pro54=)	ADAT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2354564	NM_001324445.2(ADAT1):c.157A>G (p.Lys53Glu)	ADAT1 (K53E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2256769	NM_001324445.2(ADAT1):c.149C>A (p.Thr50Asn)	ADAT1 (T50N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2468593	NM_001324445.2(ADAT1):c.99A>T (p.Leu33Phe)	ADAT1 (L33F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2530208	NM_001324445.2(ADAT1):c.13G>A (p.Asp5Asn)	ADAT1 (D5N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 2423618	NC_000016.9:g.(?_75589682)_(75690509_?)dup	TMEM231, ADAT1 +3 more	Duplication	Joubert syndrome 20 +1 more	GUncertain significance
Select item 1809475	GRCh37/hg19 16q22.3-23.1(chr16:73858079-75855162)x1	ADAT1, BCAR1 +21 more	Copy number loss	not provided	GUncertain significance
Select item 1809401	GRCh37/hg19 16q22.3-23.1(chr16:73673334-78137887)x1	ADAMTS18, ADAT1 +29 more	Copy number loss	not provided	GUncertain significance
Select item 1809163	GRCh37/hg19 16q22.3-23.1(chr16:73673334-76105189)x4	ADAT1, BCAR1 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	ACSF3, ADAD2 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1682045	NC_000016.9:g.(?_75428968)_(75690509_?)del	CHST5, GABARAPL2 +7 more	Deletion	not provided	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1351746	NC_000016.9:g.(?_75573892)_(75690509_?)del	KARS1, TERF2IP +3 more	Deletion	Joubert syndrome 20 +1 more	GPathogenic
Select item 980695	GRCh37/hg19 16q23.1(chr16:75281963-75665698)x3	CFDP1, KARS1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 980694	GRCh37/hg19 16q23.1(chr16:75554118-75823234)x3	TERF2IP, TMEM231 +4 more	Copy number gain	not provided	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 686376	GRCh37/hg19 16q22.2-23.1(chr16:72677179-77439111)x1	ADAMTS18, ADAT1 +27 more	Copy number loss	not provided	GUncertain significance
Select item 685979	GRCh37/hg19 16q23.1(chr16:75275780-75684031)x1	ADAT1, BCAR1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 441933	GRCh37/hg19 16q23.1(chr16:74150909-77077326)x1	ADAT1, BCAR1 +22 more	Copy number loss	See cases	GUncertain significance
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic
Select item 221527	GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	ACSF3, ADAD2 +140 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 87