ETAA1[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 152020	GRCh38/hg38 2p14-13.3(chr2:64587095-69876311)x1	AAK1, ACTR2 +216 more	Copy number loss	See cases	GLikely pathogenic
Select item 58872	GRCh38/hg38 2p14(chr2:66239485-67988719)x3	ETAA1, HCNR606 +40 more	Copy number gain	See cases	GUncertain significance
Select item 154674	GRCh38/hg38 2p14(chr2:67161296-67998206)x1	ETAA1, HHC2:066644 +11 more	Copy number loss	See cases	GUncertain significance
Select item 2375681	NM_019002.4(ETAA1):c.6T>G (p.Ser2Arg)	ETAA1 (S2R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257667	NM_019002.4(ETAA1):c.47C>T (p.Thr16Met)	ETAA1 (T16M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708358	NM_019002.4(ETAA1):c.48G>T (p.Thr16=)	ETAA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2370472	NM_019002.4(ETAA1):c.83C>T (p.Ser28Leu)	ETAA1 (S28L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276575	NM_019002.4(ETAA1):c.91G>A (p.Glu31Lys)	ETAA1 (E31K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276570	NM_019002.4(ETAA1):c.94C>G (p.Pro32Ala)	ETAA1 (P32A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286191	NM_019002.4(ETAA1):c.115T>C (p.Ser39Pro)	ETAA1 (S39P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601979	NM_019002.4(ETAA1):c.119C>T (p.Ala40Val)	ETAA1 (A40V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460063	NM_019002.4(ETAA1):c.124G>A (p.Gly42Ser)	ETAA1 (G42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364403	NM_019002.4(ETAA1):c.134C>T (p.Pro45Leu)	ETAA1 (P45L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2355879	NM_019002.4(ETAA1):c.137G>T (p.Cys46Phe)	ETAA1 (C46F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090688	NM_019002.4(ETAA1):c.145A>G (p.Arg49Gly)	ETAA1 (R49G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3276576	NM_019002.4(ETAA1):c.182A>G (p.Gln61Arg)	ETAA1 (Q61R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283331	NM_019002.4(ETAA1):c.247G>C (p.Ala83Pro)	ETAA1 (A83P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538141	NM_019002.4(ETAA1):c.260A>C (p.Asp87Ala)	ETAA1 (D87A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090693	NM_019002.4(ETAA1):c.313A>G (p.Ile105Val)	ETAA1 (I105V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385956	NM_019002.4(ETAA1):c.389G>A (p.Ser130Asn)	ETAA1 (S130N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276569	NM_019002.4(ETAA1):c.396G>C (p.Glu132Asp)	ETAA1 (E132D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090694	NM_019002.4(ETAA1):c.406A>G (p.Ile136Val)	ETAA1 (I136V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090695	NM_019002.4(ETAA1):c.454A>C (p.Met152Leu)	ETAA1 (M152L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490062	NM_019002.4(ETAA1):c.463A>T (p.Met155Leu)	ETAA1 (M155L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529306	NM_019002.4(ETAA1):c.469A>C (p.Ile157Leu)	ETAA1 (I157L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090696	NM_019002.4(ETAA1):c.475G>A (p.Glu159Lys)	ETAA1 (E159K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538042	NM_019002.4(ETAA1):c.575T>C (p.Met192Thr)	ETAA1 (M192T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463520	NM_019002.4(ETAA1):c.728T>C (p.Ile243Thr)	ETAA1 (I243T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276571	NM_019002.4(ETAA1):c.763A>G (p.Ile255Val)	ETAA1 (I255V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3276568	NM_019002.4(ETAA1):c.794A>G (p.Asn265Ser)	ETAA1 (N265S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545397	NM_019002.4(ETAA1):c.1022G>A (p.Arg341Gln)	ETAA1 (R341Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276151	NM_019002.4(ETAA1):c.1039G>A (p.Val347Ile)	ETAA1 (V347I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276572	NM_019002.4(ETAA1):c.1058C>T (p.Thr353Ile)	ETAA1 (T353I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471370	NM_019002.4(ETAA1):c.1271T>G (p.Val424Gly)	ETAA1 (V424G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590789	NM_019002.4(ETAA1):c.1430A>G (p.Asn477Ser)	ETAA1 (N477S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271266	NM_019002.4(ETAA1):c.1432A>G (p.Lys478Glu)	ETAA1 (K478E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538699	NM_019002.4(ETAA1):c.1477G>A (p.Glu493Lys)	ETAA1 (E493K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3276574	NM_019002.4(ETAA1):c.1501T>G (p.Ser501Ala)	ETAA1 (S501A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269104	NM_019002.4(ETAA1):c.1517T>C (p.Ile506Thr)	ETAA1 (I506T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531316	NM_019002.4(ETAA1):c.1604A>C (p.Lys535Thr)	ETAA1 (K535T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272362	NM_019002.4(ETAA1):c.1682G>C (p.Ser561Thr)	ETAA1 (S561T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311674	NM_019002.4(ETAA1):c.1683T>G (p.Ser561Arg)	ETAA1 (S561R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223852	NM_019002.4(ETAA1):c.1696A>G (p.Asn566Asp)	ETAA1 (N566D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263369	NM_019002.4(ETAA1):c.1756G>A (p.Ala586Thr)	ETAA1 (A586T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778819	NM_019002.4(ETAA1):c.1764A>G (p.Glu588=)	ETAA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3090689	NM_019002.4(ETAA1):c.1808A>T (p.Asp603Val)	ETAA1 (D603V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480150	NM_019002.4(ETAA1):c.1850T>C (p.Ile617Thr)	ETAA1 (I617T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620134	NM_019002.4(ETAA1):c.2009A>G (p.Asn670Ser)	ETAA1 (N670S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282663	NM_019002.4(ETAA1):c.2024G>A (p.Gly675Glu)	ETAA1 (G675E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356260	NM_019002.4(ETAA1):c.2056G>A (p.Gly686Arg)	ETAA1 (G686R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342323	NM_019002.4(ETAA1):c.2096G>T (p.Ser699Ile)	ETAA1 (S699I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090690	NM_019002.4(ETAA1):c.2152A>G (p.Met718Val)	ETAA1 (M718V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561389	NM_019002.4(ETAA1):c.2230A>G (p.Asn744Asp)	ETAA1 (N744D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225064	NM_019002.4(ETAA1):c.2301A>T (p.Lys767Asn)	ETAA1 (K767N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280351	NM_019002.4(ETAA1):c.2303T>C (p.Leu768Ser)	ETAA1 (L768S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3090691	NM_019002.4(ETAA1):c.2416G>T (p.Asp806Tyr)	ETAA1 (D806Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363207	NM_019002.4(ETAA1):c.2418T>G (p.Asp806Glu)	ETAA1 (D806E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250927	NM_019002.4(ETAA1):c.2522C>T (p.Thr841Ile)	ETAA1 (T841I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494206	NM_019002.4(ETAA1):c.2532G>A (p.Met844Ile)	ETAA1 (M844I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3090692	NM_019002.4(ETAA1):c.2543A>G (p.Lys848Arg)	ETAA1 (K848R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775724	NM_019002.4(ETAA1):c.2583A>G (p.Pro861=)	ETAA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2491437	NM_019002.4(ETAA1):c.2600T>C (p.Val867Ala)	ETAA1 (V867A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062638	GRCh37/hg19 2p14(chr2:66026430-67944842)x3	ETAA1, LINC01873 +1 more	Copy number gain	not specified	GUncertain significance
Select item 2498868	GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1	AAK1, ACTR2 +43 more	Copy number loss	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	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 1341288	GRCh37/hg19 2p14(chr2:67047717-67983034)x1	ETAA1	Copy number loss	not provided	GUncertain significance
Select item 625545	GRCh37/hg19 2p14-13.3(chr2:67491378-69679404)	ANTXR1, APLF +15 more	Copy number loss	not provided	GPathogenic
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 547118	GRCh37/hg19 2p14(chr2:65502450-68225338)x1	MEIS1, ETAA1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443261	GRCh37/hg19 2p15-14(chr2:63234780-67908846)x1	ACTR2, AFTPH +16 more	Copy number loss	See cases	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

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Items: 76